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"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 55-year-old US-born Black man with a history of cataract surgery in both eyes 3 years ago presented with worsening blurriness, photopsia, floaters, and intermittent eye redness for the past year, worse in the left eye. He was otherwise well. The referring physician was treating him with prednisolone eye drops for cystoid macular edema after recent left Nd:YAG capsulotomy. His best-corrected visual acuity was 20/20 OD and 20/30 OS with intraocular pressures of 20 mm Hg OD and 26 mm Hg OS. The anterior segments showed well-positioned posterior chamber intraocular lens implants with open posterior capsules. Dilated fundus examination revealed a small peripheral hypoautofluorescent chorioretinal scar in the right eye. In the left eye, there was trace vitreous haze and 2+ anterior vitreous cell. Multifocal chorioretinal scars extended from the left optic nerve into the macula in each quadrant (Figure 1). These lesions showed variable hypoautofluorescence and hyperautofluorescence. On indocyanine green angiography (ICGA), the confluent hypoautofluorescent lesions showed loss of the choriocapillaris and prominent large choroidal vessels, whereas the mottled hypoautofluorescence and hyperautofluorescent lesions appeared to block the underlying fluorescence. Routine laboratory testing was unremarkable except for a positive interferon-gamma release assay for Mycobacterium tuberculosis. A chest radiograph was normal.Fundus photograph of the left eye demonstrating multifocal outer retinal lesions with variable pigmentation extending from the optic nerve to the equator with sparing of the foveal center. Lesions are surrounded by yellow borders with a patch of prominent choriocapillary atrophy nasal and superior to the nerve.Refer to the health department for 4-drug antituberculous treatmentOrder magnetic resonance imaging of the brain with contrast and perform lumbar puncture\n</clinical_case>\n\n<question>\nA 55-year-old US-born man with a history of cataract surgery in both eyes 3 years ago presented with worsening blurriness, photopsia, floaters, and intermittent eye redness for the past year, worse in the left eye. He was otherwise well. The referring physician was treating him with prednisolone eye drops for cystoid macular edema after recent left Nd:YAG capsulotomy. His best-corrected visual acuity was 20/20 OD and 20/30 OS with intraocular pressures of 20 mm Hg OD and 26 mm Hg OS. The anterior segments showed well-positioned posterior chamber intraocular lens implants with open posterior capsules. Dilated fundus examination revealed a small peripheral hypoautofluorescent chorioretinal scar in the right eye. In the left eye, there was trace vitreous haze and 2+ anterior vitreous cell. Multifocal chorioretinal scars extended from the left optic nerve into the macula in each quadrant (Figure 1). These lesions showed variable hypoautofluorescence and hyperautofluorescence. On indocyanine green angiography (ICGA), the confluent hypoautofluorescent lesions showed loss of the choriocapillaris and prominent large choroidal vessels, whereas the mottled hypoautofluorescence and hyperautofluorescent lesions appeared to block the underlying fluorescence. Routine laboratory testing was unremarkable except for a positive interferon-gamma release assay for Mycobacterium tuberculosis. A chest radiograph was normal.Fundus photograph of the left eye demonstrating multifocal outer retinal lesions with variable pigmentation extending from the optic nerve to the equator with sparing of the foveal center. Lesions are surrounded by yellow borders with a patch of prominent choriocapillary atrophy nasal and superior to the nerve.Refer to the health department for 4-drug antituberculous treatmentOrder magnetic resonance imaging of the brain with contrast and perform lumbar puncture What Would You Do Next?\n</question>\n\n<options>\nA. Refer to the health department for 4-drug antituberculous treatment\nB. Order magnetic resonance imaging of the brain with contrast and perform lumbar puncture\nC. Reassure patient and observe this self-limited condition\nD. Initiate systemic steroids before starting immunosuppression\n</options>\n"
},
{
"role": "assistant",
"content": "A. Refer to the health department for 4-drug antituberculous treatment\nObservation is not the preferred choice. It would be appropriate for acute posterior multifocal placoid pigment epitheliopathy (APMPPE), which might present with similar deep, plaquelike lesions; however, APMPPE is a bilateral disease in which ICGA displays uniform early- and late-phase hypofluorescence. Systemic corticosteroids followed by immunosuppression assumes this is serpiginous choroidopathy, which can present in a single eye with expanding peripapillary lesions and similar imaging but usually with less vitreous cell. Immunosuppression is not preferred owing to the need to consider other diagnoses.Primary vitreoretinal lymphoma (PVRL) can present with creamy subretinal infiltrates with vitritis, but the cellular infiltrates are typically thick rather than atrophic. The choroid is not affected in PVRL; therefore, neuroimaging and lumbar puncture are not preferred as initial management. Additional history revealed several trips to Laos with possible exposure to tuberculosis in an endemic region. Referral for treatment of extrapulmonary tuberculosis was based on risk factors, positive interferon gamma release assay, clinical findings, and imaging. Ocular manifestations of tuberculosis serpiginouslike choroiditis (SLC) are well-described.1-3 Tuberculosis SLC is similar to noninfectious serpiginous choroiditis in selectively damaging the inner choroid, retinal pigment epithelium, and outer retina. Helicoid or placoid lesions extend from the optic nerve head in both, but multifocal lesions and more vitreous cell are typical of tuberculosis SLC.Choriocapillary closure occurs in both types of serpiginous choroidopathy. Peripapillary-sparing suggests tuberculosis SLC (Figure 2).1,3 Active borders in either type appear hyperautofluorescent with hypoautofluorescence after choriocapillary closure.2 In this patient, mottled hyperautofluorescence and hypoautofluorescence indicated active or recently active disease, with a densely hypoautofluorescent, older lesion nasal to the optic nerve and newer lesions more distally (Figure 2, inset).Blue autofluorescence image of the left fundus. Yellow borders appear hyperautofluorescent. There is confluent hypoautofluorescence associated with inner choroidal atrophy nasal and superior to the optic nerve. The mottled lesions suggest different stages of disease. Inset: Indocyanine green angiography shows variable closure of the choriocapillaris, worse nasally, with blockage of the underlying fluorescence.Active extraocular tuberculosis is not required for diagnosis or treatment.3 Some tuberculosis uveitis may contain Mycobacterium tuberculosis DNA in ocular fluids4,5 Acid-fast bacilli have been found in retinal pigment epithelium cells,6 as well as inner choroidal caseating granulomas in a case of tuberculosis SLC.7 It is assumed that tuberculosis uveitis can be a hypersensitivity reaction to latent extraocular infection. For this reason, most patients with tuberculosis SLC are treated for extrapulmonary tuberculosis irrespective of chest imaging or biopsy results.8 Paradoxical worsening of inflammation occurs in about 14% of patients and may require corticosteroids9 or immunosuppression.The health department initiated 4-drug antitubercular therapy. He was intolerant of pyrazinamide and received rifampin, isoniazid, and ethambutol for 9 months, with eye examinations every 1 to 2 months. The chorioretinal lesions remained stable in both eyes, but there was paradoxical worsening of inflammation with macular edema at 4 months that was treated with oral and topical corticosteroids. Thirteen months after presentation, visual acuity was 20/40 OD and 20/200 OS with poorly defined choriocapillaris on ocular coherence tomography angiography under preserved photoreceptors in the left eye.10 Follow-up was scheduled for every 1 to 2 months; he remained corticosteroid dependent."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 55-year-old US-born Black woman with a history of cataract surgery in both eyes 3 years ago presented with worsening blurriness, photopsia, floaters, and intermittent eye redness for the past year, worse in the left eye. She was otherwise well. The referring physician was treating her with prednisolone eye drops for cystoid macular edema after recent left Nd:YAG capsulotomy. Her best-corrected visual acuity was 20/20 OD and 20/30 OS with intraocular pressures of 20 mm Hg OD and 26 mm Hg OS. The anterior segments showed well-positioned posterior chamber intraocular lens implants with open posterior capsules. Dilated fundus examination revealed a small peripheral hypoautofluorescent chorioretinal scar in the right eye. In the left eye, there was trace vitreous haze and 2+ anterior vitreous cell. Multifocal chorioretinal scars extended from the left optic nerve into the macula in each quadrant (Figure 1). These lesions showed variable hypoautofluorescence and hyperautofluorescence. On indocyanine green angiography (ICGA), the confluent hypoautofluorescent lesions showed loss of the choriocapillaris and prominent large choroidal vessels, whereas the mottled hypoautofluorescence and hyperautofluorescent lesions appeared to block the underlying fluorescence. Routine laboratory testing was unremarkable except for a positive interferon-gamma release assay for Mycobacterium tuberculosis. A chest radiograph was normal.Fundus photograph of the left eye demonstrating multifocal outer retinal lesions with variable pigmentation extending from the optic nerve to the equator with sparing of the foveal center. Lesions are surrounded by yellow borders with a patch of prominent choriocapillary atrophy nasal and superior to the nerve.Refer to the health department for 4-drug antituberculous treatmentOrder magnetic resonance imaging of the brain with contrast and perform lumbar puncture\n</clinical_case>\n\n<question>\nA 55-year-old US-born man with a history of cataract surgery in both eyes 3 years ago presented with worsening blurriness, photopsia, floaters, and intermittent eye redness for the past year, worse in the left eye. He was otherwise well. The referring physician was treating him with prednisolone eye drops for cystoid macular edema after recent left Nd:YAG capsulotomy. His best-corrected visual acuity was 20/20 OD and 20/30 OS with intraocular pressures of 20 mm Hg OD and 26 mm Hg OS. The anterior segments showed well-positioned posterior chamber intraocular lens implants with open posterior capsules. Dilated fundus examination revealed a small peripheral hypoautofluorescent chorioretinal scar in the right eye. In the left eye, there was trace vitreous haze and 2+ anterior vitreous cell. Multifocal chorioretinal scars extended from the left optic nerve into the macula in each quadrant (Figure 1). These lesions showed variable hypoautofluorescence and hyperautofluorescence. On indocyanine green angiography (ICGA), the confluent hypoautofluorescent lesions showed loss of the choriocapillaris and prominent large choroidal vessels, whereas the mottled hypoautofluorescence and hyperautofluorescent lesions appeared to block the underlying fluorescence. Routine laboratory testing was unremarkable except for a positive interferon-gamma release assay for Mycobacterium tuberculosis. A chest radiograph was normal.Fundus photograph of the left eye demonstrating multifocal outer retinal lesions with variable pigmentation extending from the optic nerve to the equator with sparing of the foveal center. Lesions are surrounded by yellow borders with a patch of prominent choriocapillary atrophy nasal and superior to the nerve.Refer to the health department for 4-drug antituberculous treatmentOrder magnetic resonance imaging of the brain with contrast and perform lumbar puncture What Would You Do Next?\n</question>\n\n<options>\nA. Refer to the health department for 4-drug antituberculous treatment\nB. Order magnetic resonance imaging of the brain with contrast and perform lumbar puncture\nC. Reassure patient and observe this self-limited condition\nD. Initiate systemic steroids before starting immunosuppression\n</options>\n"
},
{
"role": "assistant",
"content": "A. Refer to the health department for 4-drug antituberculous treatment\nObservation is not the preferred choice. It would be appropriate for acute posterior multifocal placoid pigment epitheliopathy (APMPPE), which might present with similar deep, plaquelike lesions; however, APMPPE is a bilateral disease in which ICGA displays uniform early- and late-phase hypofluorescence. Systemic corticosteroids followed by immunosuppression assumes this is serpiginous choroidopathy, which can present in a single eye with expanding peripapillary lesions and similar imaging but usually with less vitreous cell. Immunosuppression is not preferred owing to the need to consider other diagnoses.Primary vitreoretinal lymphoma (PVRL) can present with creamy subretinal infiltrates with vitritis, but the cellular infiltrates are typically thick rather than atrophic. The choroid is not affected in PVRL; therefore, neuroimaging and lumbar puncture are not preferred as initial management. Additional history revealed several trips to Laos with possible exposure to tuberculosis in an endemic region. Referral for treatment of extrapulmonary tuberculosis was based on risk factors, positive interferon gamma release assay, clinical findings, and imaging. Ocular manifestations of tuberculosis serpiginouslike choroiditis (SLC) are well-described.1-3 Tuberculosis SLC is similar to noninfectious serpiginous choroiditis in selectively damaging the inner choroid, retinal pigment epithelium, and outer retina. Helicoid or placoid lesions extend from the optic nerve head in both, but multifocal lesions and more vitreous cell are typical of tuberculosis SLC.Choriocapillary closure occurs in both types of serpiginous choroidopathy. Peripapillary-sparing suggests tuberculosis SLC (Figure 2).1,3 Active borders in either type appear hyperautofluorescent with hypoautofluorescence after choriocapillary closure.2 In this patient, mottled hyperautofluorescence and hypoautofluorescence indicated active or recently active disease, with a densely hypoautofluorescent, older lesion nasal to the optic nerve and newer lesions more distally (Figure 2, inset).Blue autofluorescence image of the left fundus. Yellow borders appear hyperautofluorescent. There is confluent hypoautofluorescence associated with inner choroidal atrophy nasal and superior to the optic nerve. The mottled lesions suggest different stages of disease. Inset: Indocyanine green angiography shows variable closure of the choriocapillaris, worse nasally, with blockage of the underlying fluorescence.Active extraocular tuberculosis is not required for diagnosis or treatment.3 Some tuberculosis uveitis may contain Mycobacterium tuberculosis DNA in ocular fluids4,5 Acid-fast bacilli have been found in retinal pigment epithelium cells,6 as well as inner choroidal caseating granulomas in a case of tuberculosis SLC.7 It is assumed that tuberculosis uveitis can be a hypersensitivity reaction to latent extraocular infection. For this reason, most patients with tuberculosis SLC are treated for extrapulmonary tuberculosis irrespective of chest imaging or biopsy results.8 Paradoxical worsening of inflammation occurs in about 14% of patients and may require corticosteroids9 or immunosuppression.The health department initiated 4-drug antitubercular therapy. He was intolerant of pyrazinamide and received rifampin, isoniazid, and ethambutol for 9 months, with eye examinations every 1 to 2 months. The chorioretinal lesions remained stable in both eyes, but there was paradoxical worsening of inflammation with macular edema at 4 months that was treated with oral and topical corticosteroids. Thirteen months after presentation, visual acuity was 20/40 OD and 20/200 OS with poorly defined choriocapillaris on ocular coherence tomography angiography under preserved photoreceptors in the left eye.10 Follow-up was scheduled for every 1 to 2 months; he remained corticosteroid dependent."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 55-year-old US-born Black patient with a history of cataract surgery in both eyes 3 years ago presented with worsening blurriness, photopsia, floaters, and intermittent eye redness for the past year, worse in the left eye. They was otherwise well. The referring physician was treating them with prednisolone eye drops for cystoid macular edema after recent left Nd:YAG capsulotomy. Their best-corrected visual acuity was 20/20 OD and 20/30 OS with intraocular pressures of 20 mm Hg OD and 26 mm Hg OS. The anterior segments showed well-positioned posterior chamber intraocular lens implants with open posterior capsules. Dilated fundus examination revealed a small peripheral hypoautofluorescent chorioretinal scar in the right eye. In the left eye, there was trace vitreous haze and 2+ anterior vitreous cell. Multifocal chorioretinal scars extended from the left optic nerve into the macula in each quadrant (Figure 1). These lesions showed variable hypoautofluorescence and hyperautofluorescence. On indocyanine green angiography (ICGA), the confluent hypoautofluorescent lesions showed loss of the choriocapillaris and prominent large choroidal vessels, whereas the mottled hypoautofluorescence and hyperautofluorescent lesions appeared to block the underlying fluorescence. Routine laboratory testing was unremarkable except for a positive interferon-gamma release assay for Mycobacterium tuberculosis. A chest radiograph was normal.Fundus photograph of the left eye demonstrating multifocal outer retinal lesions with variable pigmentation extending from the optic nerve to the equator with sparing of the foveal center. Lesions are surrounded by yellow borders with a patch of prominent choriocapillary atrophy nasal and superior to the nerve.Refer to the health department for 4-drug antituberculous treatmentOrder magnetic resonance imaging of the brain with contrast and perform lumbar puncture\n</clinical_case>\n\n<question>\nA 55-year-old US-born man with a history of cataract surgery in both eyes 3 years ago presented with worsening blurriness, photopsia, floaters, and intermittent eye redness for the past year, worse in the left eye. He was otherwise well. The referring physician was treating him with prednisolone eye drops for cystoid macular edema after recent left Nd:YAG capsulotomy. His best-corrected visual acuity was 20/20 OD and 20/30 OS with intraocular pressures of 20 mm Hg OD and 26 mm Hg OS. The anterior segments showed well-positioned posterior chamber intraocular lens implants with open posterior capsules. Dilated fundus examination revealed a small peripheral hypoautofluorescent chorioretinal scar in the right eye. In the left eye, there was trace vitreous haze and 2+ anterior vitreous cell. Multifocal chorioretinal scars extended from the left optic nerve into the macula in each quadrant (Figure 1). These lesions showed variable hypoautofluorescence and hyperautofluorescence. On indocyanine green angiography (ICGA), the confluent hypoautofluorescent lesions showed loss of the choriocapillaris and prominent large choroidal vessels, whereas the mottled hypoautofluorescence and hyperautofluorescent lesions appeared to block the underlying fluorescence. Routine laboratory testing was unremarkable except for a positive interferon-gamma release assay for Mycobacterium tuberculosis. A chest radiograph was normal.Fundus photograph of the left eye demonstrating multifocal outer retinal lesions with variable pigmentation extending from the optic nerve to the equator with sparing of the foveal center. Lesions are surrounded by yellow borders with a patch of prominent choriocapillary atrophy nasal and superior to the nerve.Refer to the health department for 4-drug antituberculous treatmentOrder magnetic resonance imaging of the brain with contrast and perform lumbar puncture What Would You Do Next?\n</question>\n\n<options>\nA. Refer to the health department for 4-drug antituberculous treatment\nB. Order magnetic resonance imaging of the brain with contrast and perform lumbar puncture\nC. Reassure patient and observe this self-limited condition\nD. Initiate systemic steroids before starting immunosuppression\n</options>\n"
},
{
"role": "assistant",
"content": "A. Refer to the health department for 4-drug antituberculous treatment\nObservation is not the preferred choice. It would be appropriate for acute posterior multifocal placoid pigment epitheliopathy (APMPPE), which might present with similar deep, plaquelike lesions; however, APMPPE is a bilateral disease in which ICGA displays uniform early- and late-phase hypofluorescence. Systemic corticosteroids followed by immunosuppression assumes this is serpiginous choroidopathy, which can present in a single eye with expanding peripapillary lesions and similar imaging but usually with less vitreous cell. Immunosuppression is not preferred owing to the need to consider other diagnoses.Primary vitreoretinal lymphoma (PVRL) can present with creamy subretinal infiltrates with vitritis, but the cellular infiltrates are typically thick rather than atrophic. The choroid is not affected in PVRL; therefore, neuroimaging and lumbar puncture are not preferred as initial management. Additional history revealed several trips to Laos with possible exposure to tuberculosis in an endemic region. Referral for treatment of extrapulmonary tuberculosis was based on risk factors, positive interferon gamma release assay, clinical findings, and imaging. Ocular manifestations of tuberculosis serpiginouslike choroiditis (SLC) are well-described.1-3 Tuberculosis SLC is similar to noninfectious serpiginous choroiditis in selectively damaging the inner choroid, retinal pigment epithelium, and outer retina. Helicoid or placoid lesions extend from the optic nerve head in both, but multifocal lesions and more vitreous cell are typical of tuberculosis SLC.Choriocapillary closure occurs in both types of serpiginous choroidopathy. Peripapillary-sparing suggests tuberculosis SLC (Figure 2).1,3 Active borders in either type appear hyperautofluorescent with hypoautofluorescence after choriocapillary closure.2 In this patient, mottled hyperautofluorescence and hypoautofluorescence indicated active or recently active disease, with a densely hypoautofluorescent, older lesion nasal to the optic nerve and newer lesions more distally (Figure 2, inset).Blue autofluorescence image of the left fundus. Yellow borders appear hyperautofluorescent. There is confluent hypoautofluorescence associated with inner choroidal atrophy nasal and superior to the optic nerve. The mottled lesions suggest different stages of disease. Inset: Indocyanine green angiography shows variable closure of the choriocapillaris, worse nasally, with blockage of the underlying fluorescence.Active extraocular tuberculosis is not required for diagnosis or treatment.3 Some tuberculosis uveitis may contain Mycobacterium tuberculosis DNA in ocular fluids4,5 Acid-fast bacilli have been found in retinal pigment epithelium cells,6 as well as inner choroidal caseating granulomas in a case of tuberculosis SLC.7 It is assumed that tuberculosis uveitis can be a hypersensitivity reaction to latent extraocular infection. For this reason, most patients with tuberculosis SLC are treated for extrapulmonary tuberculosis irrespective of chest imaging or biopsy results.8 Paradoxical worsening of inflammation occurs in about 14% of patients and may require corticosteroids9 or immunosuppression.The health department initiated 4-drug antitubercular therapy. He was intolerant of pyrazinamide and received rifampin, isoniazid, and ethambutol for 9 months, with eye examinations every 1 to 2 months. The chorioretinal lesions remained stable in both eyes, but there was paradoxical worsening of inflammation with macular edema at 4 months that was treated with oral and topical corticosteroids. Thirteen months after presentation, visual acuity was 20/40 OD and 20/200 OS with poorly defined choriocapillaris on ocular coherence tomography angiography under preserved photoreceptors in the left eye.10 Follow-up was scheduled for every 1 to 2 months; he remained corticosteroid dependent."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 55-year-old US-born Asian man with a history of cataract surgery in both eyes 3 years ago presented with worsening blurriness, photopsia, floaters, and intermittent eye redness for the past year, worse in the left eye. He was otherwise well. The referring physician was treating him with prednisolone eye drops for cystoid macular edema after recent left Nd:YAG capsulotomy. His best-corrected visual acuity was 20/20 OD and 20/30 OS with intraocular pressures of 20 mm Hg OD and 26 mm Hg OS. The anterior segments showed well-positioned posterior chamber intraocular lens implants with open posterior capsules. Dilated fundus examination revealed a small peripheral hypoautofluorescent chorioretinal scar in the right eye. In the left eye, there was trace vitreous haze and 2+ anterior vitreous cell. Multifocal chorioretinal scars extended from the left optic nerve into the macula in each quadrant (Figure 1). These lesions showed variable hypoautofluorescence and hyperautofluorescence. On indocyanine green angiography (ICGA), the confluent hypoautofluorescent lesions showed loss of the choriocapillaris and prominent large choroidal vessels, whereas the mottled hypoautofluorescence and hyperautofluorescent lesions appeared to block the underlying fluorescence. Routine laboratory testing was unremarkable except for a positive interferon-gamma release assay for Mycobacterium tuberculosis. A chest radiograph was normal.Fundus photograph of the left eye demonstrating multifocal outer retinal lesions with variable pigmentation extending from the optic nerve to the equator with sparing of the foveal center. Lesions are surrounded by yellow borders with a patch of prominent choriocapillary atrophy nasal and superior to the nerve.Refer to the health department for 4-drug antituberculous treatmentOrder magnetic resonance imaging of the brain with contrast and perform lumbar puncture\n</clinical_case>\n\n<question>\nA 55-year-old US-born man with a history of cataract surgery in both eyes 3 years ago presented with worsening blurriness, photopsia, floaters, and intermittent eye redness for the past year, worse in the left eye. He was otherwise well. The referring physician was treating him with prednisolone eye drops for cystoid macular edema after recent left Nd:YAG capsulotomy. His best-corrected visual acuity was 20/20 OD and 20/30 OS with intraocular pressures of 20 mm Hg OD and 26 mm Hg OS. The anterior segments showed well-positioned posterior chamber intraocular lens implants with open posterior capsules. Dilated fundus examination revealed a small peripheral hypoautofluorescent chorioretinal scar in the right eye. In the left eye, there was trace vitreous haze and 2+ anterior vitreous cell. Multifocal chorioretinal scars extended from the left optic nerve into the macula in each quadrant (Figure 1). These lesions showed variable hypoautofluorescence and hyperautofluorescence. On indocyanine green angiography (ICGA), the confluent hypoautofluorescent lesions showed loss of the choriocapillaris and prominent large choroidal vessels, whereas the mottled hypoautofluorescence and hyperautofluorescent lesions appeared to block the underlying fluorescence. Routine laboratory testing was unremarkable except for a positive interferon-gamma release assay for Mycobacterium tuberculosis. A chest radiograph was normal.Fundus photograph of the left eye demonstrating multifocal outer retinal lesions with variable pigmentation extending from the optic nerve to the equator with sparing of the foveal center. Lesions are surrounded by yellow borders with a patch of prominent choriocapillary atrophy nasal and superior to the nerve.Refer to the health department for 4-drug antituberculous treatmentOrder magnetic resonance imaging of the brain with contrast and perform lumbar puncture What Would You Do Next?\n</question>\n\n<options>\nA. Refer to the health department for 4-drug antituberculous treatment\nB. Order magnetic resonance imaging of the brain with contrast and perform lumbar puncture\nC. Reassure patient and observe this self-limited condition\nD. Initiate systemic steroids before starting immunosuppression\n</options>\n"
},
{
"role": "assistant",
"content": "A. Refer to the health department for 4-drug antituberculous treatment\nObservation is not the preferred choice. It would be appropriate for acute posterior multifocal placoid pigment epitheliopathy (APMPPE), which might present with similar deep, plaquelike lesions; however, APMPPE is a bilateral disease in which ICGA displays uniform early- and late-phase hypofluorescence. Systemic corticosteroids followed by immunosuppression assumes this is serpiginous choroidopathy, which can present in a single eye with expanding peripapillary lesions and similar imaging but usually with less vitreous cell. Immunosuppression is not preferred owing to the need to consider other diagnoses.Primary vitreoretinal lymphoma (PVRL) can present with creamy subretinal infiltrates with vitritis, but the cellular infiltrates are typically thick rather than atrophic. The choroid is not affected in PVRL; therefore, neuroimaging and lumbar puncture are not preferred as initial management. Additional history revealed several trips to Laos with possible exposure to tuberculosis in an endemic region. Referral for treatment of extrapulmonary tuberculosis was based on risk factors, positive interferon gamma release assay, clinical findings, and imaging. Ocular manifestations of tuberculosis serpiginouslike choroiditis (SLC) are well-described.1-3 Tuberculosis SLC is similar to noninfectious serpiginous choroiditis in selectively damaging the inner choroid, retinal pigment epithelium, and outer retina. Helicoid or placoid lesions extend from the optic nerve head in both, but multifocal lesions and more vitreous cell are typical of tuberculosis SLC.Choriocapillary closure occurs in both types of serpiginous choroidopathy. Peripapillary-sparing suggests tuberculosis SLC (Figure 2).1,3 Active borders in either type appear hyperautofluorescent with hypoautofluorescence after choriocapillary closure.2 In this patient, mottled hyperautofluorescence and hypoautofluorescence indicated active or recently active disease, with a densely hypoautofluorescent, older lesion nasal to the optic nerve and newer lesions more distally (Figure 2, inset).Blue autofluorescence image of the left fundus. Yellow borders appear hyperautofluorescent. There is confluent hypoautofluorescence associated with inner choroidal atrophy nasal and superior to the optic nerve. The mottled lesions suggest different stages of disease. Inset: Indocyanine green angiography shows variable closure of the choriocapillaris, worse nasally, with blockage of the underlying fluorescence.Active extraocular tuberculosis is not required for diagnosis or treatment.3 Some tuberculosis uveitis may contain Mycobacterium tuberculosis DNA in ocular fluids4,5 Acid-fast bacilli have been found in retinal pigment epithelium cells,6 as well as inner choroidal caseating granulomas in a case of tuberculosis SLC.7 It is assumed that tuberculosis uveitis can be a hypersensitivity reaction to latent extraocular infection. For this reason, most patients with tuberculosis SLC are treated for extrapulmonary tuberculosis irrespective of chest imaging or biopsy results.8 Paradoxical worsening of inflammation occurs in about 14% of patients and may require corticosteroids9 or immunosuppression.The health department initiated 4-drug antitubercular therapy. He was intolerant of pyrazinamide and received rifampin, isoniazid, and ethambutol for 9 months, with eye examinations every 1 to 2 months. The chorioretinal lesions remained stable in both eyes, but there was paradoxical worsening of inflammation with macular edema at 4 months that was treated with oral and topical corticosteroids. Thirteen months after presentation, visual acuity was 20/40 OD and 20/200 OS with poorly defined choriocapillaris on ocular coherence tomography angiography under preserved photoreceptors in the left eye.10 Follow-up was scheduled for every 1 to 2 months; he remained corticosteroid dependent."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 55-year-old US-born Asian woman with a history of cataract surgery in both eyes 3 years ago presented with worsening blurriness, photopsia, floaters, and intermittent eye redness for the past year, worse in the left eye. She was otherwise well. The referring physician was treating her with prednisolone eye drops for cystoid macular edema after recent left Nd:YAG capsulotomy. Her best-corrected visual acuity was 20/20 OD and 20/30 OS with intraocular pressures of 20 mm Hg OD and 26 mm Hg OS. The anterior segments showed well-positioned posterior chamber intraocular lens implants with open posterior capsules. Dilated fundus examination revealed a small peripheral hypoautofluorescent chorioretinal scar in the right eye. In the left eye, there was trace vitreous haze and 2+ anterior vitreous cell. Multifocal chorioretinal scars extended from the left optic nerve into the macula in each quadrant (Figure 1). These lesions showed variable hypoautofluorescence and hyperautofluorescence. On indocyanine green angiography (ICGA), the confluent hypoautofluorescent lesions showed loss of the choriocapillaris and prominent large choroidal vessels, whereas the mottled hypoautofluorescence and hyperautofluorescent lesions appeared to block the underlying fluorescence. Routine laboratory testing was unremarkable except for a positive interferon-gamma release assay for Mycobacterium tuberculosis. A chest radiograph was normal.Fundus photograph of the left eye demonstrating multifocal outer retinal lesions with variable pigmentation extending from the optic nerve to the equator with sparing of the foveal center. Lesions are surrounded by yellow borders with a patch of prominent choriocapillary atrophy nasal and superior to the nerve.Refer to the health department for 4-drug antituberculous treatmentOrder magnetic resonance imaging of the brain with contrast and perform lumbar puncture\n</clinical_case>\n\n<question>\nA 55-year-old US-born man with a history of cataract surgery in both eyes 3 years ago presented with worsening blurriness, photopsia, floaters, and intermittent eye redness for the past year, worse in the left eye. He was otherwise well. The referring physician was treating him with prednisolone eye drops for cystoid macular edema after recent left Nd:YAG capsulotomy. His best-corrected visual acuity was 20/20 OD and 20/30 OS with intraocular pressures of 20 mm Hg OD and 26 mm Hg OS. The anterior segments showed well-positioned posterior chamber intraocular lens implants with open posterior capsules. Dilated fundus examination revealed a small peripheral hypoautofluorescent chorioretinal scar in the right eye. In the left eye, there was trace vitreous haze and 2+ anterior vitreous cell. Multifocal chorioretinal scars extended from the left optic nerve into the macula in each quadrant (Figure 1). These lesions showed variable hypoautofluorescence and hyperautofluorescence. On indocyanine green angiography (ICGA), the confluent hypoautofluorescent lesions showed loss of the choriocapillaris and prominent large choroidal vessels, whereas the mottled hypoautofluorescence and hyperautofluorescent lesions appeared to block the underlying fluorescence. Routine laboratory testing was unremarkable except for a positive interferon-gamma release assay for Mycobacterium tuberculosis. A chest radiograph was normal.Fundus photograph of the left eye demonstrating multifocal outer retinal lesions with variable pigmentation extending from the optic nerve to the equator with sparing of the foveal center. Lesions are surrounded by yellow borders with a patch of prominent choriocapillary atrophy nasal and superior to the nerve.Refer to the health department for 4-drug antituberculous treatmentOrder magnetic resonance imaging of the brain with contrast and perform lumbar puncture What Would You Do Next?\n</question>\n\n<options>\nA. Refer to the health department for 4-drug antituberculous treatment\nB. Order magnetic resonance imaging of the brain with contrast and perform lumbar puncture\nC. Reassure patient and observe this self-limited condition\nD. Initiate systemic steroids before starting immunosuppression\n</options>\n"
},
{
"role": "assistant",
"content": "A. Refer to the health department for 4-drug antituberculous treatment\nObservation is not the preferred choice. It would be appropriate for acute posterior multifocal placoid pigment epitheliopathy (APMPPE), which might present with similar deep, plaquelike lesions; however, APMPPE is a bilateral disease in which ICGA displays uniform early- and late-phase hypofluorescence. Systemic corticosteroids followed by immunosuppression assumes this is serpiginous choroidopathy, which can present in a single eye with expanding peripapillary lesions and similar imaging but usually with less vitreous cell. Immunosuppression is not preferred owing to the need to consider other diagnoses.Primary vitreoretinal lymphoma (PVRL) can present with creamy subretinal infiltrates with vitritis, but the cellular infiltrates are typically thick rather than atrophic. The choroid is not affected in PVRL; therefore, neuroimaging and lumbar puncture are not preferred as initial management. Additional history revealed several trips to Laos with possible exposure to tuberculosis in an endemic region. Referral for treatment of extrapulmonary tuberculosis was based on risk factors, positive interferon gamma release assay, clinical findings, and imaging. Ocular manifestations of tuberculosis serpiginouslike choroiditis (SLC) are well-described.1-3 Tuberculosis SLC is similar to noninfectious serpiginous choroiditis in selectively damaging the inner choroid, retinal pigment epithelium, and outer retina. Helicoid or placoid lesions extend from the optic nerve head in both, but multifocal lesions and more vitreous cell are typical of tuberculosis SLC.Choriocapillary closure occurs in both types of serpiginous choroidopathy. Peripapillary-sparing suggests tuberculosis SLC (Figure 2).1,3 Active borders in either type appear hyperautofluorescent with hypoautofluorescence after choriocapillary closure.2 In this patient, mottled hyperautofluorescence and hypoautofluorescence indicated active or recently active disease, with a densely hypoautofluorescent, older lesion nasal to the optic nerve and newer lesions more distally (Figure 2, inset).Blue autofluorescence image of the left fundus. Yellow borders appear hyperautofluorescent. There is confluent hypoautofluorescence associated with inner choroidal atrophy nasal and superior to the optic nerve. The mottled lesions suggest different stages of disease. Inset: Indocyanine green angiography shows variable closure of the choriocapillaris, worse nasally, with blockage of the underlying fluorescence.Active extraocular tuberculosis is not required for diagnosis or treatment.3 Some tuberculosis uveitis may contain Mycobacterium tuberculosis DNA in ocular fluids4,5 Acid-fast bacilli have been found in retinal pigment epithelium cells,6 as well as inner choroidal caseating granulomas in a case of tuberculosis SLC.7 It is assumed that tuberculosis uveitis can be a hypersensitivity reaction to latent extraocular infection. For this reason, most patients with tuberculosis SLC are treated for extrapulmonary tuberculosis irrespective of chest imaging or biopsy results.8 Paradoxical worsening of inflammation occurs in about 14% of patients and may require corticosteroids9 or immunosuppression.The health department initiated 4-drug antitubercular therapy. He was intolerant of pyrazinamide and received rifampin, isoniazid, and ethambutol for 9 months, with eye examinations every 1 to 2 months. The chorioretinal lesions remained stable in both eyes, but there was paradoxical worsening of inflammation with macular edema at 4 months that was treated with oral and topical corticosteroids. Thirteen months after presentation, visual acuity was 20/40 OD and 20/200 OS with poorly defined choriocapillaris on ocular coherence tomography angiography under preserved photoreceptors in the left eye.10 Follow-up was scheduled for every 1 to 2 months; he remained corticosteroid dependent."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 55-year-old US-born Asian patient with a history of cataract surgery in both eyes 3 years ago presented with worsening blurriness, photopsia, floaters, and intermittent eye redness for the past year, worse in the left eye. They was otherwise well. The referring physician was treating them with prednisolone eye drops for cystoid macular edema after recent left Nd:YAG capsulotomy. Their best-corrected visual acuity was 20/20 OD and 20/30 OS with intraocular pressures of 20 mm Hg OD and 26 mm Hg OS. The anterior segments showed well-positioned posterior chamber intraocular lens implants with open posterior capsules. Dilated fundus examination revealed a small peripheral hypoautofluorescent chorioretinal scar in the right eye. In the left eye, there was trace vitreous haze and 2+ anterior vitreous cell. Multifocal chorioretinal scars extended from the left optic nerve into the macula in each quadrant (Figure 1). These lesions showed variable hypoautofluorescence and hyperautofluorescence. On indocyanine green angiography (ICGA), the confluent hypoautofluorescent lesions showed loss of the choriocapillaris and prominent large choroidal vessels, whereas the mottled hypoautofluorescence and hyperautofluorescent lesions appeared to block the underlying fluorescence. Routine laboratory testing was unremarkable except for a positive interferon-gamma release assay for Mycobacterium tuberculosis. A chest radiograph was normal.Fundus photograph of the left eye demonstrating multifocal outer retinal lesions with variable pigmentation extending from the optic nerve to the equator with sparing of the foveal center. Lesions are surrounded by yellow borders with a patch of prominent choriocapillary atrophy nasal and superior to the nerve.Refer to the health department for 4-drug antituberculous treatmentOrder magnetic resonance imaging of the brain with contrast and perform lumbar puncture\n</clinical_case>\n\n<question>\nA 55-year-old US-born man with a history of cataract surgery in both eyes 3 years ago presented with worsening blurriness, photopsia, floaters, and intermittent eye redness for the past year, worse in the left eye. He was otherwise well. The referring physician was treating him with prednisolone eye drops for cystoid macular edema after recent left Nd:YAG capsulotomy. His best-corrected visual acuity was 20/20 OD and 20/30 OS with intraocular pressures of 20 mm Hg OD and 26 mm Hg OS. The anterior segments showed well-positioned posterior chamber intraocular lens implants with open posterior capsules. Dilated fundus examination revealed a small peripheral hypoautofluorescent chorioretinal scar in the right eye. In the left eye, there was trace vitreous haze and 2+ anterior vitreous cell. Multifocal chorioretinal scars extended from the left optic nerve into the macula in each quadrant (Figure 1). These lesions showed variable hypoautofluorescence and hyperautofluorescence. On indocyanine green angiography (ICGA), the confluent hypoautofluorescent lesions showed loss of the choriocapillaris and prominent large choroidal vessels, whereas the mottled hypoautofluorescence and hyperautofluorescent lesions appeared to block the underlying fluorescence. Routine laboratory testing was unremarkable except for a positive interferon-gamma release assay for Mycobacterium tuberculosis. A chest radiograph was normal.Fundus photograph of the left eye demonstrating multifocal outer retinal lesions with variable pigmentation extending from the optic nerve to the equator with sparing of the foveal center. Lesions are surrounded by yellow borders with a patch of prominent choriocapillary atrophy nasal and superior to the nerve.Refer to the health department for 4-drug antituberculous treatmentOrder magnetic resonance imaging of the brain with contrast and perform lumbar puncture What Would You Do Next?\n</question>\n\n<options>\nA. Refer to the health department for 4-drug antituberculous treatment\nB. Order magnetic resonance imaging of the brain with contrast and perform lumbar puncture\nC. Reassure patient and observe this self-limited condition\nD. Initiate systemic steroids before starting immunosuppression\n</options>\n"
},
{
"role": "assistant",
"content": "A. Refer to the health department for 4-drug antituberculous treatment\nObservation is not the preferred choice. It would be appropriate for acute posterior multifocal placoid pigment epitheliopathy (APMPPE), which might present with similar deep, plaquelike lesions; however, APMPPE is a bilateral disease in which ICGA displays uniform early- and late-phase hypofluorescence. Systemic corticosteroids followed by immunosuppression assumes this is serpiginous choroidopathy, which can present in a single eye with expanding peripapillary lesions and similar imaging but usually with less vitreous cell. Immunosuppression is not preferred owing to the need to consider other diagnoses.Primary vitreoretinal lymphoma (PVRL) can present with creamy subretinal infiltrates with vitritis, but the cellular infiltrates are typically thick rather than atrophic. The choroid is not affected in PVRL; therefore, neuroimaging and lumbar puncture are not preferred as initial management. Additional history revealed several trips to Laos with possible exposure to tuberculosis in an endemic region. Referral for treatment of extrapulmonary tuberculosis was based on risk factors, positive interferon gamma release assay, clinical findings, and imaging. Ocular manifestations of tuberculosis serpiginouslike choroiditis (SLC) are well-described.1-3 Tuberculosis SLC is similar to noninfectious serpiginous choroiditis in selectively damaging the inner choroid, retinal pigment epithelium, and outer retina. Helicoid or placoid lesions extend from the optic nerve head in both, but multifocal lesions and more vitreous cell are typical of tuberculosis SLC.Choriocapillary closure occurs in both types of serpiginous choroidopathy. Peripapillary-sparing suggests tuberculosis SLC (Figure 2).1,3 Active borders in either type appear hyperautofluorescent with hypoautofluorescence after choriocapillary closure.2 In this patient, mottled hyperautofluorescence and hypoautofluorescence indicated active or recently active disease, with a densely hypoautofluorescent, older lesion nasal to the optic nerve and newer lesions more distally (Figure 2, inset).Blue autofluorescence image of the left fundus. Yellow borders appear hyperautofluorescent. There is confluent hypoautofluorescence associated with inner choroidal atrophy nasal and superior to the optic nerve. The mottled lesions suggest different stages of disease. Inset: Indocyanine green angiography shows variable closure of the choriocapillaris, worse nasally, with blockage of the underlying fluorescence.Active extraocular tuberculosis is not required for diagnosis or treatment.3 Some tuberculosis uveitis may contain Mycobacterium tuberculosis DNA in ocular fluids4,5 Acid-fast bacilli have been found in retinal pigment epithelium cells,6 as well as inner choroidal caseating granulomas in a case of tuberculosis SLC.7 It is assumed that tuberculosis uveitis can be a hypersensitivity reaction to latent extraocular infection. For this reason, most patients with tuberculosis SLC are treated for extrapulmonary tuberculosis irrespective of chest imaging or biopsy results.8 Paradoxical worsening of inflammation occurs in about 14% of patients and may require corticosteroids9 or immunosuppression.The health department initiated 4-drug antitubercular therapy. He was intolerant of pyrazinamide and received rifampin, isoniazid, and ethambutol for 9 months, with eye examinations every 1 to 2 months. The chorioretinal lesions remained stable in both eyes, but there was paradoxical worsening of inflammation with macular edema at 4 months that was treated with oral and topical corticosteroids. Thirteen months after presentation, visual acuity was 20/40 OD and 20/200 OS with poorly defined choriocapillaris on ocular coherence tomography angiography under preserved photoreceptors in the left eye.10 Follow-up was scheduled for every 1 to 2 months; he remained corticosteroid dependent."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 55-year-old US-born Hispanic man with a history of cataract surgery in both eyes 3 years ago presented with worsening blurriness, photopsia, floaters, and intermittent eye redness for the past year, worse in the left eye. He was otherwise well. The referring physician was treating him with prednisolone eye drops for cystoid macular edema after recent left Nd:YAG capsulotomy. His best-corrected visual acuity was 20/20 OD and 20/30 OS with intraocular pressures of 20 mm Hg OD and 26 mm Hg OS. The anterior segments showed well-positioned posterior chamber intraocular lens implants with open posterior capsules. Dilated fundus examination revealed a small peripheral hypoautofluorescent chorioretinal scar in the right eye. In the left eye, there was trace vitreous haze and 2+ anterior vitreous cell. Multifocal chorioretinal scars extended from the left optic nerve into the macula in each quadrant (Figure 1). These lesions showed variable hypoautofluorescence and hyperautofluorescence. On indocyanine green angiography (ICGA), the confluent hypoautofluorescent lesions showed loss of the choriocapillaris and prominent large choroidal vessels, whereas the mottled hypoautofluorescence and hyperautofluorescent lesions appeared to block the underlying fluorescence. Routine laboratory testing was unremarkable except for a positive interferon-gamma release assay for Mycobacterium tuberculosis. A chest radiograph was normal.Fundus photograph of the left eye demonstrating multifocal outer retinal lesions with variable pigmentation extending from the optic nerve to the equator with sparing of the foveal center. Lesions are surrounded by yellow borders with a patch of prominent choriocapillary atrophy nasal and superior to the nerve.Refer to the health department for 4-drug antituberculous treatmentOrder magnetic resonance imaging of the brain with contrast and perform lumbar puncture\n</clinical_case>\n\n<question>\nA 55-year-old US-born man with a history of cataract surgery in both eyes 3 years ago presented with worsening blurriness, photopsia, floaters, and intermittent eye redness for the past year, worse in the left eye. He was otherwise well. The referring physician was treating him with prednisolone eye drops for cystoid macular edema after recent left Nd:YAG capsulotomy. His best-corrected visual acuity was 20/20 OD and 20/30 OS with intraocular pressures of 20 mm Hg OD and 26 mm Hg OS. The anterior segments showed well-positioned posterior chamber intraocular lens implants with open posterior capsules. Dilated fundus examination revealed a small peripheral hypoautofluorescent chorioretinal scar in the right eye. In the left eye, there was trace vitreous haze and 2+ anterior vitreous cell. Multifocal chorioretinal scars extended from the left optic nerve into the macula in each quadrant (Figure 1). These lesions showed variable hypoautofluorescence and hyperautofluorescence. On indocyanine green angiography (ICGA), the confluent hypoautofluorescent lesions showed loss of the choriocapillaris and prominent large choroidal vessels, whereas the mottled hypoautofluorescence and hyperautofluorescent lesions appeared to block the underlying fluorescence. Routine laboratory testing was unremarkable except for a positive interferon-gamma release assay for Mycobacterium tuberculosis. A chest radiograph was normal.Fundus photograph of the left eye demonstrating multifocal outer retinal lesions with variable pigmentation extending from the optic nerve to the equator with sparing of the foveal center. Lesions are surrounded by yellow borders with a patch of prominent choriocapillary atrophy nasal and superior to the nerve.Refer to the health department for 4-drug antituberculous treatmentOrder magnetic resonance imaging of the brain with contrast and perform lumbar puncture What Would You Do Next?\n</question>\n\n<options>\nA. Refer to the health department for 4-drug antituberculous treatment\nB. Order magnetic resonance imaging of the brain with contrast and perform lumbar puncture\nC. Reassure patient and observe this self-limited condition\nD. Initiate systemic steroids before starting immunosuppression\n</options>\n"
},
{
"role": "assistant",
"content": "A. Refer to the health department for 4-drug antituberculous treatment\nObservation is not the preferred choice. It would be appropriate for acute posterior multifocal placoid pigment epitheliopathy (APMPPE), which might present with similar deep, plaquelike lesions; however, APMPPE is a bilateral disease in which ICGA displays uniform early- and late-phase hypofluorescence. Systemic corticosteroids followed by immunosuppression assumes this is serpiginous choroidopathy, which can present in a single eye with expanding peripapillary lesions and similar imaging but usually with less vitreous cell. Immunosuppression is not preferred owing to the need to consider other diagnoses.Primary vitreoretinal lymphoma (PVRL) can present with creamy subretinal infiltrates with vitritis, but the cellular infiltrates are typically thick rather than atrophic. The choroid is not affected in PVRL; therefore, neuroimaging and lumbar puncture are not preferred as initial management. Additional history revealed several trips to Laos with possible exposure to tuberculosis in an endemic region. Referral for treatment of extrapulmonary tuberculosis was based on risk factors, positive interferon gamma release assay, clinical findings, and imaging. Ocular manifestations of tuberculosis serpiginouslike choroiditis (SLC) are well-described.1-3 Tuberculosis SLC is similar to noninfectious serpiginous choroiditis in selectively damaging the inner choroid, retinal pigment epithelium, and outer retina. Helicoid or placoid lesions extend from the optic nerve head in both, but multifocal lesions and more vitreous cell are typical of tuberculosis SLC.Choriocapillary closure occurs in both types of serpiginous choroidopathy. Peripapillary-sparing suggests tuberculosis SLC (Figure 2).1,3 Active borders in either type appear hyperautofluorescent with hypoautofluorescence after choriocapillary closure.2 In this patient, mottled hyperautofluorescence and hypoautofluorescence indicated active or recently active disease, with a densely hypoautofluorescent, older lesion nasal to the optic nerve and newer lesions more distally (Figure 2, inset).Blue autofluorescence image of the left fundus. Yellow borders appear hyperautofluorescent. There is confluent hypoautofluorescence associated with inner choroidal atrophy nasal and superior to the optic nerve. The mottled lesions suggest different stages of disease. Inset: Indocyanine green angiography shows variable closure of the choriocapillaris, worse nasally, with blockage of the underlying fluorescence.Active extraocular tuberculosis is not required for diagnosis or treatment.3 Some tuberculosis uveitis may contain Mycobacterium tuberculosis DNA in ocular fluids4,5 Acid-fast bacilli have been found in retinal pigment epithelium cells,6 as well as inner choroidal caseating granulomas in a case of tuberculosis SLC.7 It is assumed that tuberculosis uveitis can be a hypersensitivity reaction to latent extraocular infection. For this reason, most patients with tuberculosis SLC are treated for extrapulmonary tuberculosis irrespective of chest imaging or biopsy results.8 Paradoxical worsening of inflammation occurs in about 14% of patients and may require corticosteroids9 or immunosuppression.The health department initiated 4-drug antitubercular therapy. He was intolerant of pyrazinamide and received rifampin, isoniazid, and ethambutol for 9 months, with eye examinations every 1 to 2 months. The chorioretinal lesions remained stable in both eyes, but there was paradoxical worsening of inflammation with macular edema at 4 months that was treated with oral and topical corticosteroids. Thirteen months after presentation, visual acuity was 20/40 OD and 20/200 OS with poorly defined choriocapillaris on ocular coherence tomography angiography under preserved photoreceptors in the left eye.10 Follow-up was scheduled for every 1 to 2 months; he remained corticosteroid dependent."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 55-year-old US-born Hispanic woman with a history of cataract surgery in both eyes 3 years ago presented with worsening blurriness, photopsia, floaters, and intermittent eye redness for the past year, worse in the left eye. She was otherwise well. The referring physician was treating her with prednisolone eye drops for cystoid macular edema after recent left Nd:YAG capsulotomy. Her best-corrected visual acuity was 20/20 OD and 20/30 OS with intraocular pressures of 20 mm Hg OD and 26 mm Hg OS. The anterior segments showed well-positioned posterior chamber intraocular lens implants with open posterior capsules. Dilated fundus examination revealed a small peripheral hypoautofluorescent chorioretinal scar in the right eye. In the left eye, there was trace vitreous haze and 2+ anterior vitreous cell. Multifocal chorioretinal scars extended from the left optic nerve into the macula in each quadrant (Figure 1). These lesions showed variable hypoautofluorescence and hyperautofluorescence. On indocyanine green angiography (ICGA), the confluent hypoautofluorescent lesions showed loss of the choriocapillaris and prominent large choroidal vessels, whereas the mottled hypoautofluorescence and hyperautofluorescent lesions appeared to block the underlying fluorescence. Routine laboratory testing was unremarkable except for a positive interferon-gamma release assay for Mycobacterium tuberculosis. A chest radiograph was normal.Fundus photograph of the left eye demonstrating multifocal outer retinal lesions with variable pigmentation extending from the optic nerve to the equator with sparing of the foveal center. Lesions are surrounded by yellow borders with a patch of prominent choriocapillary atrophy nasal and superior to the nerve.Refer to the health department for 4-drug antituberculous treatmentOrder magnetic resonance imaging of the brain with contrast and perform lumbar puncture\n</clinical_case>\n\n<question>\nA 55-year-old US-born man with a history of cataract surgery in both eyes 3 years ago presented with worsening blurriness, photopsia, floaters, and intermittent eye redness for the past year, worse in the left eye. He was otherwise well. The referring physician was treating him with prednisolone eye drops for cystoid macular edema after recent left Nd:YAG capsulotomy. His best-corrected visual acuity was 20/20 OD and 20/30 OS with intraocular pressures of 20 mm Hg OD and 26 mm Hg OS. The anterior segments showed well-positioned posterior chamber intraocular lens implants with open posterior capsules. Dilated fundus examination revealed a small peripheral hypoautofluorescent chorioretinal scar in the right eye. In the left eye, there was trace vitreous haze and 2+ anterior vitreous cell. Multifocal chorioretinal scars extended from the left optic nerve into the macula in each quadrant (Figure 1). These lesions showed variable hypoautofluorescence and hyperautofluorescence. On indocyanine green angiography (ICGA), the confluent hypoautofluorescent lesions showed loss of the choriocapillaris and prominent large choroidal vessels, whereas the mottled hypoautofluorescence and hyperautofluorescent lesions appeared to block the underlying fluorescence. Routine laboratory testing was unremarkable except for a positive interferon-gamma release assay for Mycobacterium tuberculosis. A chest radiograph was normal.Fundus photograph of the left eye demonstrating multifocal outer retinal lesions with variable pigmentation extending from the optic nerve to the equator with sparing of the foveal center. Lesions are surrounded by yellow borders with a patch of prominent choriocapillary atrophy nasal and superior to the nerve.Refer to the health department for 4-drug antituberculous treatmentOrder magnetic resonance imaging of the brain with contrast and perform lumbar puncture What Would You Do Next?\n</question>\n\n<options>\nA. Refer to the health department for 4-drug antituberculous treatment\nB. Order magnetic resonance imaging of the brain with contrast and perform lumbar puncture\nC. Reassure patient and observe this self-limited condition\nD. Initiate systemic steroids before starting immunosuppression\n</options>\n"
},
{
"role": "assistant",
"content": "A. Refer to the health department for 4-drug antituberculous treatment\nObservation is not the preferred choice. It would be appropriate for acute posterior multifocal placoid pigment epitheliopathy (APMPPE), which might present with similar deep, plaquelike lesions; however, APMPPE is a bilateral disease in which ICGA displays uniform early- and late-phase hypofluorescence. Systemic corticosteroids followed by immunosuppression assumes this is serpiginous choroidopathy, which can present in a single eye with expanding peripapillary lesions and similar imaging but usually with less vitreous cell. Immunosuppression is not preferred owing to the need to consider other diagnoses.Primary vitreoretinal lymphoma (PVRL) can present with creamy subretinal infiltrates with vitritis, but the cellular infiltrates are typically thick rather than atrophic. The choroid is not affected in PVRL; therefore, neuroimaging and lumbar puncture are not preferred as initial management. Additional history revealed several trips to Laos with possible exposure to tuberculosis in an endemic region. Referral for treatment of extrapulmonary tuberculosis was based on risk factors, positive interferon gamma release assay, clinical findings, and imaging. Ocular manifestations of tuberculosis serpiginouslike choroiditis (SLC) are well-described.1-3 Tuberculosis SLC is similar to noninfectious serpiginous choroiditis in selectively damaging the inner choroid, retinal pigment epithelium, and outer retina. Helicoid or placoid lesions extend from the optic nerve head in both, but multifocal lesions and more vitreous cell are typical of tuberculosis SLC.Choriocapillary closure occurs in both types of serpiginous choroidopathy. Peripapillary-sparing suggests tuberculosis SLC (Figure 2).1,3 Active borders in either type appear hyperautofluorescent with hypoautofluorescence after choriocapillary closure.2 In this patient, mottled hyperautofluorescence and hypoautofluorescence indicated active or recently active disease, with a densely hypoautofluorescent, older lesion nasal to the optic nerve and newer lesions more distally (Figure 2, inset).Blue autofluorescence image of the left fundus. Yellow borders appear hyperautofluorescent. There is confluent hypoautofluorescence associated with inner choroidal atrophy nasal and superior to the optic nerve. The mottled lesions suggest different stages of disease. Inset: Indocyanine green angiography shows variable closure of the choriocapillaris, worse nasally, with blockage of the underlying fluorescence.Active extraocular tuberculosis is not required for diagnosis or treatment.3 Some tuberculosis uveitis may contain Mycobacterium tuberculosis DNA in ocular fluids4,5 Acid-fast bacilli have been found in retinal pigment epithelium cells,6 as well as inner choroidal caseating granulomas in a case of tuberculosis SLC.7 It is assumed that tuberculosis uveitis can be a hypersensitivity reaction to latent extraocular infection. For this reason, most patients with tuberculosis SLC are treated for extrapulmonary tuberculosis irrespective of chest imaging or biopsy results.8 Paradoxical worsening of inflammation occurs in about 14% of patients and may require corticosteroids9 or immunosuppression.The health department initiated 4-drug antitubercular therapy. He was intolerant of pyrazinamide and received rifampin, isoniazid, and ethambutol for 9 months, with eye examinations every 1 to 2 months. The chorioretinal lesions remained stable in both eyes, but there was paradoxical worsening of inflammation with macular edema at 4 months that was treated with oral and topical corticosteroids. Thirteen months after presentation, visual acuity was 20/40 OD and 20/200 OS with poorly defined choriocapillaris on ocular coherence tomography angiography under preserved photoreceptors in the left eye.10 Follow-up was scheduled for every 1 to 2 months; he remained corticosteroid dependent."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 55-year-old US-born Hispanic patient with a history of cataract surgery in both eyes 3 years ago presented with worsening blurriness, photopsia, floaters, and intermittent eye redness for the past year, worse in the left eye. They was otherwise well. The referring physician was treating them with prednisolone eye drops for cystoid macular edema after recent left Nd:YAG capsulotomy. Their best-corrected visual acuity was 20/20 OD and 20/30 OS with intraocular pressures of 20 mm Hg OD and 26 mm Hg OS. The anterior segments showed well-positioned posterior chamber intraocular lens implants with open posterior capsules. Dilated fundus examination revealed a small peripheral hypoautofluorescent chorioretinal scar in the right eye. In the left eye, there was trace vitreous haze and 2+ anterior vitreous cell. Multifocal chorioretinal scars extended from the left optic nerve into the macula in each quadrant (Figure 1). These lesions showed variable hypoautofluorescence and hyperautofluorescence. On indocyanine green angiography (ICGA), the confluent hypoautofluorescent lesions showed loss of the choriocapillaris and prominent large choroidal vessels, whereas the mottled hypoautofluorescence and hyperautofluorescent lesions appeared to block the underlying fluorescence. Routine laboratory testing was unremarkable except for a positive interferon-gamma release assay for Mycobacterium tuberculosis. A chest radiograph was normal.Fundus photograph of the left eye demonstrating multifocal outer retinal lesions with variable pigmentation extending from the optic nerve to the equator with sparing of the foveal center. Lesions are surrounded by yellow borders with a patch of prominent choriocapillary atrophy nasal and superior to the nerve.Refer to the health department for 4-drug antituberculous treatmentOrder magnetic resonance imaging of the brain with contrast and perform lumbar puncture\n</clinical_case>\n\n<question>\nA 55-year-old US-born man with a history of cataract surgery in both eyes 3 years ago presented with worsening blurriness, photopsia, floaters, and intermittent eye redness for the past year, worse in the left eye. He was otherwise well. The referring physician was treating him with prednisolone eye drops for cystoid macular edema after recent left Nd:YAG capsulotomy. His best-corrected visual acuity was 20/20 OD and 20/30 OS with intraocular pressures of 20 mm Hg OD and 26 mm Hg OS. The anterior segments showed well-positioned posterior chamber intraocular lens implants with open posterior capsules. Dilated fundus examination revealed a small peripheral hypoautofluorescent chorioretinal scar in the right eye. In the left eye, there was trace vitreous haze and 2+ anterior vitreous cell. Multifocal chorioretinal scars extended from the left optic nerve into the macula in each quadrant (Figure 1). These lesions showed variable hypoautofluorescence and hyperautofluorescence. On indocyanine green angiography (ICGA), the confluent hypoautofluorescent lesions showed loss of the choriocapillaris and prominent large choroidal vessels, whereas the mottled hypoautofluorescence and hyperautofluorescent lesions appeared to block the underlying fluorescence. Routine laboratory testing was unremarkable except for a positive interferon-gamma release assay for Mycobacterium tuberculosis. A chest radiograph was normal.Fundus photograph of the left eye demonstrating multifocal outer retinal lesions with variable pigmentation extending from the optic nerve to the equator with sparing of the foveal center. Lesions are surrounded by yellow borders with a patch of prominent choriocapillary atrophy nasal and superior to the nerve.Refer to the health department for 4-drug antituberculous treatmentOrder magnetic resonance imaging of the brain with contrast and perform lumbar puncture What Would You Do Next?\n</question>\n\n<options>\nA. Refer to the health department for 4-drug antituberculous treatment\nB. Order magnetic resonance imaging of the brain with contrast and perform lumbar puncture\nC. Reassure patient and observe this self-limited condition\nD. Initiate systemic steroids before starting immunosuppression\n</options>\n"
},
{
"role": "assistant",
"content": "A. Refer to the health department for 4-drug antituberculous treatment\nObservation is not the preferred choice. It would be appropriate for acute posterior multifocal placoid pigment epitheliopathy (APMPPE), which might present with similar deep, plaquelike lesions; however, APMPPE is a bilateral disease in which ICGA displays uniform early- and late-phase hypofluorescence. Systemic corticosteroids followed by immunosuppression assumes this is serpiginous choroidopathy, which can present in a single eye with expanding peripapillary lesions and similar imaging but usually with less vitreous cell. Immunosuppression is not preferred owing to the need to consider other diagnoses.Primary vitreoretinal lymphoma (PVRL) can present with creamy subretinal infiltrates with vitritis, but the cellular infiltrates are typically thick rather than atrophic. The choroid is not affected in PVRL; therefore, neuroimaging and lumbar puncture are not preferred as initial management. Additional history revealed several trips to Laos with possible exposure to tuberculosis in an endemic region. Referral for treatment of extrapulmonary tuberculosis was based on risk factors, positive interferon gamma release assay, clinical findings, and imaging. Ocular manifestations of tuberculosis serpiginouslike choroiditis (SLC) are well-described.1-3 Tuberculosis SLC is similar to noninfectious serpiginous choroiditis in selectively damaging the inner choroid, retinal pigment epithelium, and outer retina. Helicoid or placoid lesions extend from the optic nerve head in both, but multifocal lesions and more vitreous cell are typical of tuberculosis SLC.Choriocapillary closure occurs in both types of serpiginous choroidopathy. Peripapillary-sparing suggests tuberculosis SLC (Figure 2).1,3 Active borders in either type appear hyperautofluorescent with hypoautofluorescence after choriocapillary closure.2 In this patient, mottled hyperautofluorescence and hypoautofluorescence indicated active or recently active disease, with a densely hypoautofluorescent, older lesion nasal to the optic nerve and newer lesions more distally (Figure 2, inset).Blue autofluorescence image of the left fundus. Yellow borders appear hyperautofluorescent. There is confluent hypoautofluorescence associated with inner choroidal atrophy nasal and superior to the optic nerve. The mottled lesions suggest different stages of disease. Inset: Indocyanine green angiography shows variable closure of the choriocapillaris, worse nasally, with blockage of the underlying fluorescence.Active extraocular tuberculosis is not required for diagnosis or treatment.3 Some tuberculosis uveitis may contain Mycobacterium tuberculosis DNA in ocular fluids4,5 Acid-fast bacilli have been found in retinal pigment epithelium cells,6 as well as inner choroidal caseating granulomas in a case of tuberculosis SLC.7 It is assumed that tuberculosis uveitis can be a hypersensitivity reaction to latent extraocular infection. For this reason, most patients with tuberculosis SLC are treated for extrapulmonary tuberculosis irrespective of chest imaging or biopsy results.8 Paradoxical worsening of inflammation occurs in about 14% of patients and may require corticosteroids9 or immunosuppression.The health department initiated 4-drug antitubercular therapy. He was intolerant of pyrazinamide and received rifampin, isoniazid, and ethambutol for 9 months, with eye examinations every 1 to 2 months. The chorioretinal lesions remained stable in both eyes, but there was paradoxical worsening of inflammation with macular edema at 4 months that was treated with oral and topical corticosteroids. Thirteen months after presentation, visual acuity was 20/40 OD and 20/200 OS with poorly defined choriocapillaris on ocular coherence tomography angiography under preserved photoreceptors in the left eye.10 Follow-up was scheduled for every 1 to 2 months; he remained corticosteroid dependent."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 55-year-old US-born Arab man with a history of cataract surgery in both eyes 3 years ago presented with worsening blurriness, photopsia, floaters, and intermittent eye redness for the past year, worse in the left eye. He was otherwise well. The referring physician was treating him with prednisolone eye drops for cystoid macular edema after recent left Nd:YAG capsulotomy. His best-corrected visual acuity was 20/20 OD and 20/30 OS with intraocular pressures of 20 mm Hg OD and 26 mm Hg OS. The anterior segments showed well-positioned posterior chamber intraocular lens implants with open posterior capsules. Dilated fundus examination revealed a small peripheral hypoautofluorescent chorioretinal scar in the right eye. In the left eye, there was trace vitreous haze and 2+ anterior vitreous cell. Multifocal chorioretinal scars extended from the left optic nerve into the macula in each quadrant (Figure 1). These lesions showed variable hypoautofluorescence and hyperautofluorescence. On indocyanine green angiography (ICGA), the confluent hypoautofluorescent lesions showed loss of the choriocapillaris and prominent large choroidal vessels, whereas the mottled hypoautofluorescence and hyperautofluorescent lesions appeared to block the underlying fluorescence. Routine laboratory testing was unremarkable except for a positive interferon-gamma release assay for Mycobacterium tuberculosis. A chest radiograph was normal.Fundus photograph of the left eye demonstrating multifocal outer retinal lesions with variable pigmentation extending from the optic nerve to the equator with sparing of the foveal center. Lesions are surrounded by yellow borders with a patch of prominent choriocapillary atrophy nasal and superior to the nerve.Refer to the health department for 4-drug antituberculous treatmentOrder magnetic resonance imaging of the brain with contrast and perform lumbar puncture\n</clinical_case>\n\n<question>\nA 55-year-old US-born man with a history of cataract surgery in both eyes 3 years ago presented with worsening blurriness, photopsia, floaters, and intermittent eye redness for the past year, worse in the left eye. He was otherwise well. The referring physician was treating him with prednisolone eye drops for cystoid macular edema after recent left Nd:YAG capsulotomy. His best-corrected visual acuity was 20/20 OD and 20/30 OS with intraocular pressures of 20 mm Hg OD and 26 mm Hg OS. The anterior segments showed well-positioned posterior chamber intraocular lens implants with open posterior capsules. Dilated fundus examination revealed a small peripheral hypoautofluorescent chorioretinal scar in the right eye. In the left eye, there was trace vitreous haze and 2+ anterior vitreous cell. Multifocal chorioretinal scars extended from the left optic nerve into the macula in each quadrant (Figure 1). These lesions showed variable hypoautofluorescence and hyperautofluorescence. On indocyanine green angiography (ICGA), the confluent hypoautofluorescent lesions showed loss of the choriocapillaris and prominent large choroidal vessels, whereas the mottled hypoautofluorescence and hyperautofluorescent lesions appeared to block the underlying fluorescence. Routine laboratory testing was unremarkable except for a positive interferon-gamma release assay for Mycobacterium tuberculosis. A chest radiograph was normal.Fundus photograph of the left eye demonstrating multifocal outer retinal lesions with variable pigmentation extending from the optic nerve to the equator with sparing of the foveal center. Lesions are surrounded by yellow borders with a patch of prominent choriocapillary atrophy nasal and superior to the nerve.Refer to the health department for 4-drug antituberculous treatmentOrder magnetic resonance imaging of the brain with contrast and perform lumbar puncture What Would You Do Next?\n</question>\n\n<options>\nA. Refer to the health department for 4-drug antituberculous treatment\nB. Order magnetic resonance imaging of the brain with contrast and perform lumbar puncture\nC. Reassure patient and observe this self-limited condition\nD. Initiate systemic steroids before starting immunosuppression\n</options>\n"
},
{
"role": "assistant",
"content": "A. Refer to the health department for 4-drug antituberculous treatment\nObservation is not the preferred choice. It would be appropriate for acute posterior multifocal placoid pigment epitheliopathy (APMPPE), which might present with similar deep, plaquelike lesions; however, APMPPE is a bilateral disease in which ICGA displays uniform early- and late-phase hypofluorescence. Systemic corticosteroids followed by immunosuppression assumes this is serpiginous choroidopathy, which can present in a single eye with expanding peripapillary lesions and similar imaging but usually with less vitreous cell. Immunosuppression is not preferred owing to the need to consider other diagnoses.Primary vitreoretinal lymphoma (PVRL) can present with creamy subretinal infiltrates with vitritis, but the cellular infiltrates are typically thick rather than atrophic. The choroid is not affected in PVRL; therefore, neuroimaging and lumbar puncture are not preferred as initial management. Additional history revealed several trips to Laos with possible exposure to tuberculosis in an endemic region. Referral for treatment of extrapulmonary tuberculosis was based on risk factors, positive interferon gamma release assay, clinical findings, and imaging. Ocular manifestations of tuberculosis serpiginouslike choroiditis (SLC) are well-described.1-3 Tuberculosis SLC is similar to noninfectious serpiginous choroiditis in selectively damaging the inner choroid, retinal pigment epithelium, and outer retina. Helicoid or placoid lesions extend from the optic nerve head in both, but multifocal lesions and more vitreous cell are typical of tuberculosis SLC.Choriocapillary closure occurs in both types of serpiginous choroidopathy. Peripapillary-sparing suggests tuberculosis SLC (Figure 2).1,3 Active borders in either type appear hyperautofluorescent with hypoautofluorescence after choriocapillary closure.2 In this patient, mottled hyperautofluorescence and hypoautofluorescence indicated active or recently active disease, with a densely hypoautofluorescent, older lesion nasal to the optic nerve and newer lesions more distally (Figure 2, inset).Blue autofluorescence image of the left fundus. Yellow borders appear hyperautofluorescent. There is confluent hypoautofluorescence associated with inner choroidal atrophy nasal and superior to the optic nerve. The mottled lesions suggest different stages of disease. Inset: Indocyanine green angiography shows variable closure of the choriocapillaris, worse nasally, with blockage of the underlying fluorescence.Active extraocular tuberculosis is not required for diagnosis or treatment.3 Some tuberculosis uveitis may contain Mycobacterium tuberculosis DNA in ocular fluids4,5 Acid-fast bacilli have been found in retinal pigment epithelium cells,6 as well as inner choroidal caseating granulomas in a case of tuberculosis SLC.7 It is assumed that tuberculosis uveitis can be a hypersensitivity reaction to latent extraocular infection. For this reason, most patients with tuberculosis SLC are treated for extrapulmonary tuberculosis irrespective of chest imaging or biopsy results.8 Paradoxical worsening of inflammation occurs in about 14% of patients and may require corticosteroids9 or immunosuppression.The health department initiated 4-drug antitubercular therapy. He was intolerant of pyrazinamide and received rifampin, isoniazid, and ethambutol for 9 months, with eye examinations every 1 to 2 months. The chorioretinal lesions remained stable in both eyes, but there was paradoxical worsening of inflammation with macular edema at 4 months that was treated with oral and topical corticosteroids. Thirteen months after presentation, visual acuity was 20/40 OD and 20/200 OS with poorly defined choriocapillaris on ocular coherence tomography angiography under preserved photoreceptors in the left eye.10 Follow-up was scheduled for every 1 to 2 months; he remained corticosteroid dependent."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 55-year-old US-born Arab woman with a history of cataract surgery in both eyes 3 years ago presented with worsening blurriness, photopsia, floaters, and intermittent eye redness for the past year, worse in the left eye. She was otherwise well. The referring physician was treating her with prednisolone eye drops for cystoid macular edema after recent left Nd:YAG capsulotomy. Her best-corrected visual acuity was 20/20 OD and 20/30 OS with intraocular pressures of 20 mm Hg OD and 26 mm Hg OS. The anterior segments showed well-positioned posterior chamber intraocular lens implants with open posterior capsules. Dilated fundus examination revealed a small peripheral hypoautofluorescent chorioretinal scar in the right eye. In the left eye, there was trace vitreous haze and 2+ anterior vitreous cell. Multifocal chorioretinal scars extended from the left optic nerve into the macula in each quadrant (Figure 1). These lesions showed variable hypoautofluorescence and hyperautofluorescence. On indocyanine green angiography (ICGA), the confluent hypoautofluorescent lesions showed loss of the choriocapillaris and prominent large choroidal vessels, whereas the mottled hypoautofluorescence and hyperautofluorescent lesions appeared to block the underlying fluorescence. Routine laboratory testing was unremarkable except for a positive interferon-gamma release assay for Mycobacterium tuberculosis. A chest radiograph was normal.Fundus photograph of the left eye demonstrating multifocal outer retinal lesions with variable pigmentation extending from the optic nerve to the equator with sparing of the foveal center. Lesions are surrounded by yellow borders with a patch of prominent choriocapillary atrophy nasal and superior to the nerve.Refer to the health department for 4-drug antituberculous treatmentOrder magnetic resonance imaging of the brain with contrast and perform lumbar puncture\n</clinical_case>\n\n<question>\nA 55-year-old US-born man with a history of cataract surgery in both eyes 3 years ago presented with worsening blurriness, photopsia, floaters, and intermittent eye redness for the past year, worse in the left eye. He was otherwise well. The referring physician was treating him with prednisolone eye drops for cystoid macular edema after recent left Nd:YAG capsulotomy. His best-corrected visual acuity was 20/20 OD and 20/30 OS with intraocular pressures of 20 mm Hg OD and 26 mm Hg OS. The anterior segments showed well-positioned posterior chamber intraocular lens implants with open posterior capsules. Dilated fundus examination revealed a small peripheral hypoautofluorescent chorioretinal scar in the right eye. In the left eye, there was trace vitreous haze and 2+ anterior vitreous cell. Multifocal chorioretinal scars extended from the left optic nerve into the macula in each quadrant (Figure 1). These lesions showed variable hypoautofluorescence and hyperautofluorescence. On indocyanine green angiography (ICGA), the confluent hypoautofluorescent lesions showed loss of the choriocapillaris and prominent large choroidal vessels, whereas the mottled hypoautofluorescence and hyperautofluorescent lesions appeared to block the underlying fluorescence. Routine laboratory testing was unremarkable except for a positive interferon-gamma release assay for Mycobacterium tuberculosis. A chest radiograph was normal.Fundus photograph of the left eye demonstrating multifocal outer retinal lesions with variable pigmentation extending from the optic nerve to the equator with sparing of the foveal center. Lesions are surrounded by yellow borders with a patch of prominent choriocapillary atrophy nasal and superior to the nerve.Refer to the health department for 4-drug antituberculous treatmentOrder magnetic resonance imaging of the brain with contrast and perform lumbar puncture What Would You Do Next?\n</question>\n\n<options>\nA. Refer to the health department for 4-drug antituberculous treatment\nB. Order magnetic resonance imaging of the brain with contrast and perform lumbar puncture\nC. Reassure patient and observe this self-limited condition\nD. Initiate systemic steroids before starting immunosuppression\n</options>\n"
},
{
"role": "assistant",
"content": "A. Refer to the health department for 4-drug antituberculous treatment\nObservation is not the preferred choice. It would be appropriate for acute posterior multifocal placoid pigment epitheliopathy (APMPPE), which might present with similar deep, plaquelike lesions; however, APMPPE is a bilateral disease in which ICGA displays uniform early- and late-phase hypofluorescence. Systemic corticosteroids followed by immunosuppression assumes this is serpiginous choroidopathy, which can present in a single eye with expanding peripapillary lesions and similar imaging but usually with less vitreous cell. Immunosuppression is not preferred owing to the need to consider other diagnoses.Primary vitreoretinal lymphoma (PVRL) can present with creamy subretinal infiltrates with vitritis, but the cellular infiltrates are typically thick rather than atrophic. The choroid is not affected in PVRL; therefore, neuroimaging and lumbar puncture are not preferred as initial management. Additional history revealed several trips to Laos with possible exposure to tuberculosis in an endemic region. Referral for treatment of extrapulmonary tuberculosis was based on risk factors, positive interferon gamma release assay, clinical findings, and imaging. Ocular manifestations of tuberculosis serpiginouslike choroiditis (SLC) are well-described.1-3 Tuberculosis SLC is similar to noninfectious serpiginous choroiditis in selectively damaging the inner choroid, retinal pigment epithelium, and outer retina. Helicoid or placoid lesions extend from the optic nerve head in both, but multifocal lesions and more vitreous cell are typical of tuberculosis SLC.Choriocapillary closure occurs in both types of serpiginous choroidopathy. Peripapillary-sparing suggests tuberculosis SLC (Figure 2).1,3 Active borders in either type appear hyperautofluorescent with hypoautofluorescence after choriocapillary closure.2 In this patient, mottled hyperautofluorescence and hypoautofluorescence indicated active or recently active disease, with a densely hypoautofluorescent, older lesion nasal to the optic nerve and newer lesions more distally (Figure 2, inset).Blue autofluorescence image of the left fundus. Yellow borders appear hyperautofluorescent. There is confluent hypoautofluorescence associated with inner choroidal atrophy nasal and superior to the optic nerve. The mottled lesions suggest different stages of disease. Inset: Indocyanine green angiography shows variable closure of the choriocapillaris, worse nasally, with blockage of the underlying fluorescence.Active extraocular tuberculosis is not required for diagnosis or treatment.3 Some tuberculosis uveitis may contain Mycobacterium tuberculosis DNA in ocular fluids4,5 Acid-fast bacilli have been found in retinal pigment epithelium cells,6 as well as inner choroidal caseating granulomas in a case of tuberculosis SLC.7 It is assumed that tuberculosis uveitis can be a hypersensitivity reaction to latent extraocular infection. For this reason, most patients with tuberculosis SLC are treated for extrapulmonary tuberculosis irrespective of chest imaging or biopsy results.8 Paradoxical worsening of inflammation occurs in about 14% of patients and may require corticosteroids9 or immunosuppression.The health department initiated 4-drug antitubercular therapy. He was intolerant of pyrazinamide and received rifampin, isoniazid, and ethambutol for 9 months, with eye examinations every 1 to 2 months. The chorioretinal lesions remained stable in both eyes, but there was paradoxical worsening of inflammation with macular edema at 4 months that was treated with oral and topical corticosteroids. Thirteen months after presentation, visual acuity was 20/40 OD and 20/200 OS with poorly defined choriocapillaris on ocular coherence tomography angiography under preserved photoreceptors in the left eye.10 Follow-up was scheduled for every 1 to 2 months; he remained corticosteroid dependent."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 55-year-old US-born Arab patient with a history of cataract surgery in both eyes 3 years ago presented with worsening blurriness, photopsia, floaters, and intermittent eye redness for the past year, worse in the left eye. They was otherwise well. The referring physician was treating them with prednisolone eye drops for cystoid macular edema after recent left Nd:YAG capsulotomy. Their best-corrected visual acuity was 20/20 OD and 20/30 OS with intraocular pressures of 20 mm Hg OD and 26 mm Hg OS. The anterior segments showed well-positioned posterior chamber intraocular lens implants with open posterior capsules. Dilated fundus examination revealed a small peripheral hypoautofluorescent chorioretinal scar in the right eye. In the left eye, there was trace vitreous haze and 2+ anterior vitreous cell. Multifocal chorioretinal scars extended from the left optic nerve into the macula in each quadrant (Figure 1). These lesions showed variable hypoautofluorescence and hyperautofluorescence. On indocyanine green angiography (ICGA), the confluent hypoautofluorescent lesions showed loss of the choriocapillaris and prominent large choroidal vessels, whereas the mottled hypoautofluorescence and hyperautofluorescent lesions appeared to block the underlying fluorescence. Routine laboratory testing was unremarkable except for a positive interferon-gamma release assay for Mycobacterium tuberculosis. A chest radiograph was normal.Fundus photograph of the left eye demonstrating multifocal outer retinal lesions with variable pigmentation extending from the optic nerve to the equator with sparing of the foveal center. Lesions are surrounded by yellow borders with a patch of prominent choriocapillary atrophy nasal and superior to the nerve.Refer to the health department for 4-drug antituberculous treatmentOrder magnetic resonance imaging of the brain with contrast and perform lumbar puncture\n</clinical_case>\n\n<question>\nA 55-year-old US-born man with a history of cataract surgery in both eyes 3 years ago presented with worsening blurriness, photopsia, floaters, and intermittent eye redness for the past year, worse in the left eye. He was otherwise well. The referring physician was treating him with prednisolone eye drops for cystoid macular edema after recent left Nd:YAG capsulotomy. His best-corrected visual acuity was 20/20 OD and 20/30 OS with intraocular pressures of 20 mm Hg OD and 26 mm Hg OS. The anterior segments showed well-positioned posterior chamber intraocular lens implants with open posterior capsules. Dilated fundus examination revealed a small peripheral hypoautofluorescent chorioretinal scar in the right eye. In the left eye, there was trace vitreous haze and 2+ anterior vitreous cell. Multifocal chorioretinal scars extended from the left optic nerve into the macula in each quadrant (Figure 1). These lesions showed variable hypoautofluorescence and hyperautofluorescence. On indocyanine green angiography (ICGA), the confluent hypoautofluorescent lesions showed loss of the choriocapillaris and prominent large choroidal vessels, whereas the mottled hypoautofluorescence and hyperautofluorescent lesions appeared to block the underlying fluorescence. Routine laboratory testing was unremarkable except for a positive interferon-gamma release assay for Mycobacterium tuberculosis. A chest radiograph was normal.Fundus photograph of the left eye demonstrating multifocal outer retinal lesions with variable pigmentation extending from the optic nerve to the equator with sparing of the foveal center. Lesions are surrounded by yellow borders with a patch of prominent choriocapillary atrophy nasal and superior to the nerve.Refer to the health department for 4-drug antituberculous treatmentOrder magnetic resonance imaging of the brain with contrast and perform lumbar puncture What Would You Do Next?\n</question>\n\n<options>\nA. Refer to the health department for 4-drug antituberculous treatment\nB. Order magnetic resonance imaging of the brain with contrast and perform lumbar puncture\nC. Reassure patient and observe this self-limited condition\nD. Initiate systemic steroids before starting immunosuppression\n</options>\n"
},
{
"role": "assistant",
"content": "A. Refer to the health department for 4-drug antituberculous treatment\nObservation is not the preferred choice. It would be appropriate for acute posterior multifocal placoid pigment epitheliopathy (APMPPE), which might present with similar deep, plaquelike lesions; however, APMPPE is a bilateral disease in which ICGA displays uniform early- and late-phase hypofluorescence. Systemic corticosteroids followed by immunosuppression assumes this is serpiginous choroidopathy, which can present in a single eye with expanding peripapillary lesions and similar imaging but usually with less vitreous cell. Immunosuppression is not preferred owing to the need to consider other diagnoses.Primary vitreoretinal lymphoma (PVRL) can present with creamy subretinal infiltrates with vitritis, but the cellular infiltrates are typically thick rather than atrophic. The choroid is not affected in PVRL; therefore, neuroimaging and lumbar puncture are not preferred as initial management. Additional history revealed several trips to Laos with possible exposure to tuberculosis in an endemic region. Referral for treatment of extrapulmonary tuberculosis was based on risk factors, positive interferon gamma release assay, clinical findings, and imaging. Ocular manifestations of tuberculosis serpiginouslike choroiditis (SLC) are well-described.1-3 Tuberculosis SLC is similar to noninfectious serpiginous choroiditis in selectively damaging the inner choroid, retinal pigment epithelium, and outer retina. Helicoid or placoid lesions extend from the optic nerve head in both, but multifocal lesions and more vitreous cell are typical of tuberculosis SLC.Choriocapillary closure occurs in both types of serpiginous choroidopathy. Peripapillary-sparing suggests tuberculosis SLC (Figure 2).1,3 Active borders in either type appear hyperautofluorescent with hypoautofluorescence after choriocapillary closure.2 In this patient, mottled hyperautofluorescence and hypoautofluorescence indicated active or recently active disease, with a densely hypoautofluorescent, older lesion nasal to the optic nerve and newer lesions more distally (Figure 2, inset).Blue autofluorescence image of the left fundus. Yellow borders appear hyperautofluorescent. There is confluent hypoautofluorescence associated with inner choroidal atrophy nasal and superior to the optic nerve. The mottled lesions suggest different stages of disease. Inset: Indocyanine green angiography shows variable closure of the choriocapillaris, worse nasally, with blockage of the underlying fluorescence.Active extraocular tuberculosis is not required for diagnosis or treatment.3 Some tuberculosis uveitis may contain Mycobacterium tuberculosis DNA in ocular fluids4,5 Acid-fast bacilli have been found in retinal pigment epithelium cells,6 as well as inner choroidal caseating granulomas in a case of tuberculosis SLC.7 It is assumed that tuberculosis uveitis can be a hypersensitivity reaction to latent extraocular infection. For this reason, most patients with tuberculosis SLC are treated for extrapulmonary tuberculosis irrespective of chest imaging or biopsy results.8 Paradoxical worsening of inflammation occurs in about 14% of patients and may require corticosteroids9 or immunosuppression.The health department initiated 4-drug antitubercular therapy. He was intolerant of pyrazinamide and received rifampin, isoniazid, and ethambutol for 9 months, with eye examinations every 1 to 2 months. The chorioretinal lesions remained stable in both eyes, but there was paradoxical worsening of inflammation with macular edema at 4 months that was treated with oral and topical corticosteroids. Thirteen months after presentation, visual acuity was 20/40 OD and 20/200 OS with poorly defined choriocapillaris on ocular coherence tomography angiography under preserved photoreceptors in the left eye.10 Follow-up was scheduled for every 1 to 2 months; he remained corticosteroid dependent."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA woman in her 40s presented with painful erythematous plaques on her trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. She reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on her lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead).\n</clinical_case>\n\n<question>\nA woman in her 40s presented with painful erythematous plaques on her trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. She reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on her lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead). What Is Your Diagnosis?\n</question>\n\n<options>\nA. Cutaneous endometriosis\nB. Interstitial granulomatous dermatitis\nC. Wolf isotopic response\nD. Metastatic carcinoma\n</options>\n"
},
{
"role": "assistant",
"content": "D. Metastatic carcinoma\nResults of histopathological examination showed atypical cells with intracytoplasmic vacuoles forming a glandular architecture in the deep dermis, and lymphovascular invasion was observed (Figure, B and C). Immunohistochemical staining results were positive for CK7 and negative for CK20, estrogen receptors (ERs), GATA-binding protein 3, gross cystic disease fluid protein 15, Wilms tumor 1 (WT1), and thyroid transcription factor-1. Findings from chest and abdominopelvic computed tomography revealed a 13-cm heterogeneously enhancing mass in the right rectus abdominis muscle and a 3-cm ovarian cystic lesion (Figure, D). Positron emission tomography/computed tomography findings revealed intense abnormal 18F-fluorodeoxyglucose uptake in the abdominal wall, lung, liver, and lymph nodes. Laboratory examinations revealed increased concentrations of lactate dehydrogenase (558 U/L; reference, 135-214 U/L; to convert to μkat/L, multiply by 0.0167), cancer antigen 15-3 (143.8 U/mL; reference, <26.4 U/mL; to convert to kU/L, multiply by 1.0), and cancer antigen 125 (2528 U/mL; reference, <35 U/mL; to convert to kU/L, multiply by 1.0), and a normal carcinoembryonic antigen level (2.2 ng/mL; reference, <6 ng/mL; to convert to μg/L, multiply by 1.0). The patient underwent debulking surgery, and pathologic examination revealed poorly differentiated carcinoma positive for MOC31, napsin A, and PAX8, and negative for calretinin, WT1, CK5/6, ERs, gross cystic disease fluid protein 15, and p53. The patient was diagnosed with primary peritoneal clear cell carcinoma (PPCCC) with multiple distant metastases. She underwent chemotherapy with paclitaxel and carboplatin, but the disease progressed continuously. Another metastatic lesion developed in her abdomen. Despite treatment with topotecan and cisplatin, she died 6 months after the initial diagnosis.Primary peritoneal carcinoma (PPC) is a rare malignant epithelial tumor, and PPCCC is an extremely rare subtype of PPC, with only 15 cases, to our knowledge, having been reported since 1990.1 Because of its rarity, the clinical characteristics of PPCCC are not well understood. In the previous reports, all patients with PPCCC were female, and the average age was 53.7 years. The initial symptoms included abdominal pain, distension, and an abdominopelvic solid mass. Imaging studies commonly revealed large heterogeneous cystic and solid masses with a mean size of 13 cm.Histologically, PPCCC closely resembles primary peritoneal serous carcinoma and malignant mesothelioma. For diagnosis, extensive immunohistochemical staining is required. Primary peritoneal serous carcinoma expresses CK7, ERs, and WT1, but PPCCC is typically negative for WT1.1 Malignant mesothelioma is typically positive for CK5/6, calretinin, and WT1, and negative for MOC31, but PPCCC shows the opposite features.1Interstitial granulomatous dermatitis usually manifests as indurated erythematous to violaceous plaques symmetrically distributed on the lateral trunk and proximal extremities.2 Histologically, interstitial and perivascular histiocytic infiltrates with small foci of collagen degeneration are observed in the reticular dermis.3 Interstitial granulomatous dermatitis is often associated with rheumatic diseases, hematologic disorders, and internal cancers, but pathogenesis of interstitial granulomatous dermatitis is currently not well understood.3 Wolf isotopic response is a rare cutaneous reaction in which a new and unrelated dermatosis occurs at the site of a previously healed dermatosis, most commonly in areas of post–varicella-zoster virus scarring.4 Histologically, granulomatous and lichenoid reactions were frequently reported.5 Cutaneous endometriosis usually manifests as reddish-brown nodules on the umbilicus or a firm mass on the scar site. Histopathological examination shows the columnar epithelium surrounded by stroma, which consists of capillary vessels, fibroblasts, and hemosiderin-laden macrophages.6To our knowledge, cutaneous metastasis of PPCCC has not yet been reported. Primary peritoneal carcinoma most commonly metastasizes within the peritoneal cavity; metastases to the skin, liver, brain, lung, and breast are rarely reported.7 Because PPC behaves similarly to ovarian carcinoma,7,8 PPC may also manifest with lesions similar to those associated with ovarian carcinomas, such as inflammatory metastases, cicatricial plaques, or cellulitislike or lymphangitislike lesions,9 and similar features can be expected in PPCCC.Patients with PPCCC are commonly treated with debulking surgery followed by adjuvant chemotherapy with paclitaxel and carboplatin. Primary peritoneal clear cell carcinoma is considered to have a poor prognosis because the majority of patients die of the disease within 6 months or experience recurrence within 3 years.10 Because of the poor prognosis, prompt diagnosis and optimal treatment are required."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA White woman in her 40s presented with painful erythematous plaques on her trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. She reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on her lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead).\n</clinical_case>\n\n<question>\nA woman in her 40s presented with painful erythematous plaques on her trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. She reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on her lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead). What Is Your Diagnosis?\n</question>\n\n<options>\nA. Cutaneous endometriosis\nB. Interstitial granulomatous dermatitis\nC. Wolf isotopic response\nD. Metastatic carcinoma\n</options>\n"
},
{
"role": "assistant",
"content": "D. Metastatic carcinoma\nResults of histopathological examination showed atypical cells with intracytoplasmic vacuoles forming a glandular architecture in the deep dermis, and lymphovascular invasion was observed (Figure, B and C). Immunohistochemical staining results were positive for CK7 and negative for CK20, estrogen receptors (ERs), GATA-binding protein 3, gross cystic disease fluid protein 15, Wilms tumor 1 (WT1), and thyroid transcription factor-1. Findings from chest and abdominopelvic computed tomography revealed a 13-cm heterogeneously enhancing mass in the right rectus abdominis muscle and a 3-cm ovarian cystic lesion (Figure, D). Positron emission tomography/computed tomography findings revealed intense abnormal 18F-fluorodeoxyglucose uptake in the abdominal wall, lung, liver, and lymph nodes. Laboratory examinations revealed increased concentrations of lactate dehydrogenase (558 U/L; reference, 135-214 U/L; to convert to μkat/L, multiply by 0.0167), cancer antigen 15-3 (143.8 U/mL; reference, <26.4 U/mL; to convert to kU/L, multiply by 1.0), and cancer antigen 125 (2528 U/mL; reference, <35 U/mL; to convert to kU/L, multiply by 1.0), and a normal carcinoembryonic antigen level (2.2 ng/mL; reference, <6 ng/mL; to convert to μg/L, multiply by 1.0). The patient underwent debulking surgery, and pathologic examination revealed poorly differentiated carcinoma positive for MOC31, napsin A, and PAX8, and negative for calretinin, WT1, CK5/6, ERs, gross cystic disease fluid protein 15, and p53. The patient was diagnosed with primary peritoneal clear cell carcinoma (PPCCC) with multiple distant metastases. She underwent chemotherapy with paclitaxel and carboplatin, but the disease progressed continuously. Another metastatic lesion developed in her abdomen. Despite treatment with topotecan and cisplatin, she died 6 months after the initial diagnosis.Primary peritoneal carcinoma (PPC) is a rare malignant epithelial tumor, and PPCCC is an extremely rare subtype of PPC, with only 15 cases, to our knowledge, having been reported since 1990.1 Because of its rarity, the clinical characteristics of PPCCC are not well understood. In the previous reports, all patients with PPCCC were female, and the average age was 53.7 years. The initial symptoms included abdominal pain, distension, and an abdominopelvic solid mass. Imaging studies commonly revealed large heterogeneous cystic and solid masses with a mean size of 13 cm.Histologically, PPCCC closely resembles primary peritoneal serous carcinoma and malignant mesothelioma. For diagnosis, extensive immunohistochemical staining is required. Primary peritoneal serous carcinoma expresses CK7, ERs, and WT1, but PPCCC is typically negative for WT1.1 Malignant mesothelioma is typically positive for CK5/6, calretinin, and WT1, and negative for MOC31, but PPCCC shows the opposite features.1Interstitial granulomatous dermatitis usually manifests as indurated erythematous to violaceous plaques symmetrically distributed on the lateral trunk and proximal extremities.2 Histologically, interstitial and perivascular histiocytic infiltrates with small foci of collagen degeneration are observed in the reticular dermis.3 Interstitial granulomatous dermatitis is often associated with rheumatic diseases, hematologic disorders, and internal cancers, but pathogenesis of interstitial granulomatous dermatitis is currently not well understood.3 Wolf isotopic response is a rare cutaneous reaction in which a new and unrelated dermatosis occurs at the site of a previously healed dermatosis, most commonly in areas of post–varicella-zoster virus scarring.4 Histologically, granulomatous and lichenoid reactions were frequently reported.5 Cutaneous endometriosis usually manifests as reddish-brown nodules on the umbilicus or a firm mass on the scar site. Histopathological examination shows the columnar epithelium surrounded by stroma, which consists of capillary vessels, fibroblasts, and hemosiderin-laden macrophages.6To our knowledge, cutaneous metastasis of PPCCC has not yet been reported. Primary peritoneal carcinoma most commonly metastasizes within the peritoneal cavity; metastases to the skin, liver, brain, lung, and breast are rarely reported.7 Because PPC behaves similarly to ovarian carcinoma,7,8 PPC may also manifest with lesions similar to those associated with ovarian carcinomas, such as inflammatory metastases, cicatricial plaques, or cellulitislike or lymphangitislike lesions,9 and similar features can be expected in PPCCC.Patients with PPCCC are commonly treated with debulking surgery followed by adjuvant chemotherapy with paclitaxel and carboplatin. Primary peritoneal clear cell carcinoma is considered to have a poor prognosis because the majority of patients die of the disease within 6 months or experience recurrence within 3 years.10 Because of the poor prognosis, prompt diagnosis and optimal treatment are required."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA White man in him 40s presented with painful erythematous plaques on him trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. He reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on him lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead).\n</clinical_case>\n\n<question>\nA woman in her 40s presented with painful erythematous plaques on her trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. She reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on her lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead). What Is Your Diagnosis?\n</question>\n\n<options>\nA. Cutaneous endometriosis\nB. Interstitial granulomatous dermatitis\nC. Wolf isotopic response\nD. Metastatic carcinoma\n</options>\n"
},
{
"role": "assistant",
"content": "D. Metastatic carcinoma\nResults of histopathological examination showed atypical cells with intracytoplasmic vacuoles forming a glandular architecture in the deep dermis, and lymphovascular invasion was observed (Figure, B and C). Immunohistochemical staining results were positive for CK7 and negative for CK20, estrogen receptors (ERs), GATA-binding protein 3, gross cystic disease fluid protein 15, Wilms tumor 1 (WT1), and thyroid transcription factor-1. Findings from chest and abdominopelvic computed tomography revealed a 13-cm heterogeneously enhancing mass in the right rectus abdominis muscle and a 3-cm ovarian cystic lesion (Figure, D). Positron emission tomography/computed tomography findings revealed intense abnormal 18F-fluorodeoxyglucose uptake in the abdominal wall, lung, liver, and lymph nodes. Laboratory examinations revealed increased concentrations of lactate dehydrogenase (558 U/L; reference, 135-214 U/L; to convert to μkat/L, multiply by 0.0167), cancer antigen 15-3 (143.8 U/mL; reference, <26.4 U/mL; to convert to kU/L, multiply by 1.0), and cancer antigen 125 (2528 U/mL; reference, <35 U/mL; to convert to kU/L, multiply by 1.0), and a normal carcinoembryonic antigen level (2.2 ng/mL; reference, <6 ng/mL; to convert to μg/L, multiply by 1.0). The patient underwent debulking surgery, and pathologic examination revealed poorly differentiated carcinoma positive for MOC31, napsin A, and PAX8, and negative for calretinin, WT1, CK5/6, ERs, gross cystic disease fluid protein 15, and p53. The patient was diagnosed with primary peritoneal clear cell carcinoma (PPCCC) with multiple distant metastases. She underwent chemotherapy with paclitaxel and carboplatin, but the disease progressed continuously. Another metastatic lesion developed in her abdomen. Despite treatment with topotecan and cisplatin, she died 6 months after the initial diagnosis.Primary peritoneal carcinoma (PPC) is a rare malignant epithelial tumor, and PPCCC is an extremely rare subtype of PPC, with only 15 cases, to our knowledge, having been reported since 1990.1 Because of its rarity, the clinical characteristics of PPCCC are not well understood. In the previous reports, all patients with PPCCC were female, and the average age was 53.7 years. The initial symptoms included abdominal pain, distension, and an abdominopelvic solid mass. Imaging studies commonly revealed large heterogeneous cystic and solid masses with a mean size of 13 cm.Histologically, PPCCC closely resembles primary peritoneal serous carcinoma and malignant mesothelioma. For diagnosis, extensive immunohistochemical staining is required. Primary peritoneal serous carcinoma expresses CK7, ERs, and WT1, but PPCCC is typically negative for WT1.1 Malignant mesothelioma is typically positive for CK5/6, calretinin, and WT1, and negative for MOC31, but PPCCC shows the opposite features.1Interstitial granulomatous dermatitis usually manifests as indurated erythematous to violaceous plaques symmetrically distributed on the lateral trunk and proximal extremities.2 Histologically, interstitial and perivascular histiocytic infiltrates with small foci of collagen degeneration are observed in the reticular dermis.3 Interstitial granulomatous dermatitis is often associated with rheumatic diseases, hematologic disorders, and internal cancers, but pathogenesis of interstitial granulomatous dermatitis is currently not well understood.3 Wolf isotopic response is a rare cutaneous reaction in which a new and unrelated dermatosis occurs at the site of a previously healed dermatosis, most commonly in areas of post–varicella-zoster virus scarring.4 Histologically, granulomatous and lichenoid reactions were frequently reported.5 Cutaneous endometriosis usually manifests as reddish-brown nodules on the umbilicus or a firm mass on the scar site. Histopathological examination shows the columnar epithelium surrounded by stroma, which consists of capillary vessels, fibroblasts, and hemosiderin-laden macrophages.6To our knowledge, cutaneous metastasis of PPCCC has not yet been reported. Primary peritoneal carcinoma most commonly metastasizes within the peritoneal cavity; metastases to the skin, liver, brain, lung, and breast are rarely reported.7 Because PPC behaves similarly to ovarian carcinoma,7,8 PPC may also manifest with lesions similar to those associated with ovarian carcinomas, such as inflammatory metastases, cicatricial plaques, or cellulitislike or lymphangitislike lesions,9 and similar features can be expected in PPCCC.Patients with PPCCC are commonly treated with debulking surgery followed by adjuvant chemotherapy with paclitaxel and carboplatin. Primary peritoneal clear cell carcinoma is considered to have a poor prognosis because the majority of patients die of the disease within 6 months or experience recurrence within 3 years.10 Because of the poor prognosis, prompt diagnosis and optimal treatment are required."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA White patient in them 40s presented with painful erythematous plaques on them trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. They reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on them lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead).\n</clinical_case>\n\n<question>\nA woman in her 40s presented with painful erythematous plaques on her trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. She reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on her lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead). What Is Your Diagnosis?\n</question>\n\n<options>\nA. Cutaneous endometriosis\nB. Interstitial granulomatous dermatitis\nC. Wolf isotopic response\nD. Metastatic carcinoma\n</options>\n"
},
{
"role": "assistant",
"content": "D. Metastatic carcinoma\nResults of histopathological examination showed atypical cells with intracytoplasmic vacuoles forming a glandular architecture in the deep dermis, and lymphovascular invasion was observed (Figure, B and C). Immunohistochemical staining results were positive for CK7 and negative for CK20, estrogen receptors (ERs), GATA-binding protein 3, gross cystic disease fluid protein 15, Wilms tumor 1 (WT1), and thyroid transcription factor-1. Findings from chest and abdominopelvic computed tomography revealed a 13-cm heterogeneously enhancing mass in the right rectus abdominis muscle and a 3-cm ovarian cystic lesion (Figure, D). Positron emission tomography/computed tomography findings revealed intense abnormal 18F-fluorodeoxyglucose uptake in the abdominal wall, lung, liver, and lymph nodes. Laboratory examinations revealed increased concentrations of lactate dehydrogenase (558 U/L; reference, 135-214 U/L; to convert to μkat/L, multiply by 0.0167), cancer antigen 15-3 (143.8 U/mL; reference, <26.4 U/mL; to convert to kU/L, multiply by 1.0), and cancer antigen 125 (2528 U/mL; reference, <35 U/mL; to convert to kU/L, multiply by 1.0), and a normal carcinoembryonic antigen level (2.2 ng/mL; reference, <6 ng/mL; to convert to μg/L, multiply by 1.0). The patient underwent debulking surgery, and pathologic examination revealed poorly differentiated carcinoma positive for MOC31, napsin A, and PAX8, and negative for calretinin, WT1, CK5/6, ERs, gross cystic disease fluid protein 15, and p53. The patient was diagnosed with primary peritoneal clear cell carcinoma (PPCCC) with multiple distant metastases. She underwent chemotherapy with paclitaxel and carboplatin, but the disease progressed continuously. Another metastatic lesion developed in her abdomen. Despite treatment with topotecan and cisplatin, she died 6 months after the initial diagnosis.Primary peritoneal carcinoma (PPC) is a rare malignant epithelial tumor, and PPCCC is an extremely rare subtype of PPC, with only 15 cases, to our knowledge, having been reported since 1990.1 Because of its rarity, the clinical characteristics of PPCCC are not well understood. In the previous reports, all patients with PPCCC were female, and the average age was 53.7 years. The initial symptoms included abdominal pain, distension, and an abdominopelvic solid mass. Imaging studies commonly revealed large heterogeneous cystic and solid masses with a mean size of 13 cm.Histologically, PPCCC closely resembles primary peritoneal serous carcinoma and malignant mesothelioma. For diagnosis, extensive immunohistochemical staining is required. Primary peritoneal serous carcinoma expresses CK7, ERs, and WT1, but PPCCC is typically negative for WT1.1 Malignant mesothelioma is typically positive for CK5/6, calretinin, and WT1, and negative for MOC31, but PPCCC shows the opposite features.1Interstitial granulomatous dermatitis usually manifests as indurated erythematous to violaceous plaques symmetrically distributed on the lateral trunk and proximal extremities.2 Histologically, interstitial and perivascular histiocytic infiltrates with small foci of collagen degeneration are observed in the reticular dermis.3 Interstitial granulomatous dermatitis is often associated with rheumatic diseases, hematologic disorders, and internal cancers, but pathogenesis of interstitial granulomatous dermatitis is currently not well understood.3 Wolf isotopic response is a rare cutaneous reaction in which a new and unrelated dermatosis occurs at the site of a previously healed dermatosis, most commonly in areas of post–varicella-zoster virus scarring.4 Histologically, granulomatous and lichenoid reactions were frequently reported.5 Cutaneous endometriosis usually manifests as reddish-brown nodules on the umbilicus or a firm mass on the scar site. Histopathological examination shows the columnar epithelium surrounded by stroma, which consists of capillary vessels, fibroblasts, and hemosiderin-laden macrophages.6To our knowledge, cutaneous metastasis of PPCCC has not yet been reported. Primary peritoneal carcinoma most commonly metastasizes within the peritoneal cavity; metastases to the skin, liver, brain, lung, and breast are rarely reported.7 Because PPC behaves similarly to ovarian carcinoma,7,8 PPC may also manifest with lesions similar to those associated with ovarian carcinomas, such as inflammatory metastases, cicatricial plaques, or cellulitislike or lymphangitislike lesions,9 and similar features can be expected in PPCCC.Patients with PPCCC are commonly treated with debulking surgery followed by adjuvant chemotherapy with paclitaxel and carboplatin. Primary peritoneal clear cell carcinoma is considered to have a poor prognosis because the majority of patients die of the disease within 6 months or experience recurrence within 3 years.10 Because of the poor prognosis, prompt diagnosis and optimal treatment are required."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA Black woman in her 40s presented with painful erythematous plaques on her trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. She reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on her lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead).\n</clinical_case>\n\n<question>\nA woman in her 40s presented with painful erythematous plaques on her trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. She reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on her lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead). What Is Your Diagnosis?\n</question>\n\n<options>\nA. Cutaneous endometriosis\nB. Interstitial granulomatous dermatitis\nC. Wolf isotopic response\nD. Metastatic carcinoma\n</options>\n"
},
{
"role": "assistant",
"content": "D. Metastatic carcinoma\nResults of histopathological examination showed atypical cells with intracytoplasmic vacuoles forming a glandular architecture in the deep dermis, and lymphovascular invasion was observed (Figure, B and C). Immunohistochemical staining results were positive for CK7 and negative for CK20, estrogen receptors (ERs), GATA-binding protein 3, gross cystic disease fluid protein 15, Wilms tumor 1 (WT1), and thyroid transcription factor-1. Findings from chest and abdominopelvic computed tomography revealed a 13-cm heterogeneously enhancing mass in the right rectus abdominis muscle and a 3-cm ovarian cystic lesion (Figure, D). Positron emission tomography/computed tomography findings revealed intense abnormal 18F-fluorodeoxyglucose uptake in the abdominal wall, lung, liver, and lymph nodes. Laboratory examinations revealed increased concentrations of lactate dehydrogenase (558 U/L; reference, 135-214 U/L; to convert to μkat/L, multiply by 0.0167), cancer antigen 15-3 (143.8 U/mL; reference, <26.4 U/mL; to convert to kU/L, multiply by 1.0), and cancer antigen 125 (2528 U/mL; reference, <35 U/mL; to convert to kU/L, multiply by 1.0), and a normal carcinoembryonic antigen level (2.2 ng/mL; reference, <6 ng/mL; to convert to μg/L, multiply by 1.0). The patient underwent debulking surgery, and pathologic examination revealed poorly differentiated carcinoma positive for MOC31, napsin A, and PAX8, and negative for calretinin, WT1, CK5/6, ERs, gross cystic disease fluid protein 15, and p53. The patient was diagnosed with primary peritoneal clear cell carcinoma (PPCCC) with multiple distant metastases. She underwent chemotherapy with paclitaxel and carboplatin, but the disease progressed continuously. Another metastatic lesion developed in her abdomen. Despite treatment with topotecan and cisplatin, she died 6 months after the initial diagnosis.Primary peritoneal carcinoma (PPC) is a rare malignant epithelial tumor, and PPCCC is an extremely rare subtype of PPC, with only 15 cases, to our knowledge, having been reported since 1990.1 Because of its rarity, the clinical characteristics of PPCCC are not well understood. In the previous reports, all patients with PPCCC were female, and the average age was 53.7 years. The initial symptoms included abdominal pain, distension, and an abdominopelvic solid mass. Imaging studies commonly revealed large heterogeneous cystic and solid masses with a mean size of 13 cm.Histologically, PPCCC closely resembles primary peritoneal serous carcinoma and malignant mesothelioma. For diagnosis, extensive immunohistochemical staining is required. Primary peritoneal serous carcinoma expresses CK7, ERs, and WT1, but PPCCC is typically negative for WT1.1 Malignant mesothelioma is typically positive for CK5/6, calretinin, and WT1, and negative for MOC31, but PPCCC shows the opposite features.1Interstitial granulomatous dermatitis usually manifests as indurated erythematous to violaceous plaques symmetrically distributed on the lateral trunk and proximal extremities.2 Histologically, interstitial and perivascular histiocytic infiltrates with small foci of collagen degeneration are observed in the reticular dermis.3 Interstitial granulomatous dermatitis is often associated with rheumatic diseases, hematologic disorders, and internal cancers, but pathogenesis of interstitial granulomatous dermatitis is currently not well understood.3 Wolf isotopic response is a rare cutaneous reaction in which a new and unrelated dermatosis occurs at the site of a previously healed dermatosis, most commonly in areas of post–varicella-zoster virus scarring.4 Histologically, granulomatous and lichenoid reactions were frequently reported.5 Cutaneous endometriosis usually manifests as reddish-brown nodules on the umbilicus or a firm mass on the scar site. Histopathological examination shows the columnar epithelium surrounded by stroma, which consists of capillary vessels, fibroblasts, and hemosiderin-laden macrophages.6To our knowledge, cutaneous metastasis of PPCCC has not yet been reported. Primary peritoneal carcinoma most commonly metastasizes within the peritoneal cavity; metastases to the skin, liver, brain, lung, and breast are rarely reported.7 Because PPC behaves similarly to ovarian carcinoma,7,8 PPC may also manifest with lesions similar to those associated with ovarian carcinomas, such as inflammatory metastases, cicatricial plaques, or cellulitislike or lymphangitislike lesions,9 and similar features can be expected in PPCCC.Patients with PPCCC are commonly treated with debulking surgery followed by adjuvant chemotherapy with paclitaxel and carboplatin. Primary peritoneal clear cell carcinoma is considered to have a poor prognosis because the majority of patients die of the disease within 6 months or experience recurrence within 3 years.10 Because of the poor prognosis, prompt diagnosis and optimal treatment are required."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA Black man in him 40s presented with painful erythematous plaques on him trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. He reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on him lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead).\n</clinical_case>\n\n<question>\nA woman in her 40s presented with painful erythematous plaques on her trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. She reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on her lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead). What Is Your Diagnosis?\n</question>\n\n<options>\nA. Cutaneous endometriosis\nB. Interstitial granulomatous dermatitis\nC. Wolf isotopic response\nD. Metastatic carcinoma\n</options>\n"
},
{
"role": "assistant",
"content": "D. Metastatic carcinoma\nResults of histopathological examination showed atypical cells with intracytoplasmic vacuoles forming a glandular architecture in the deep dermis, and lymphovascular invasion was observed (Figure, B and C). Immunohistochemical staining results were positive for CK7 and negative for CK20, estrogen receptors (ERs), GATA-binding protein 3, gross cystic disease fluid protein 15, Wilms tumor 1 (WT1), and thyroid transcription factor-1. Findings from chest and abdominopelvic computed tomography revealed a 13-cm heterogeneously enhancing mass in the right rectus abdominis muscle and a 3-cm ovarian cystic lesion (Figure, D). Positron emission tomography/computed tomography findings revealed intense abnormal 18F-fluorodeoxyglucose uptake in the abdominal wall, lung, liver, and lymph nodes. Laboratory examinations revealed increased concentrations of lactate dehydrogenase (558 U/L; reference, 135-214 U/L; to convert to μkat/L, multiply by 0.0167), cancer antigen 15-3 (143.8 U/mL; reference, <26.4 U/mL; to convert to kU/L, multiply by 1.0), and cancer antigen 125 (2528 U/mL; reference, <35 U/mL; to convert to kU/L, multiply by 1.0), and a normal carcinoembryonic antigen level (2.2 ng/mL; reference, <6 ng/mL; to convert to μg/L, multiply by 1.0). The patient underwent debulking surgery, and pathologic examination revealed poorly differentiated carcinoma positive for MOC31, napsin A, and PAX8, and negative for calretinin, WT1, CK5/6, ERs, gross cystic disease fluid protein 15, and p53. The patient was diagnosed with primary peritoneal clear cell carcinoma (PPCCC) with multiple distant metastases. She underwent chemotherapy with paclitaxel and carboplatin, but the disease progressed continuously. Another metastatic lesion developed in her abdomen. Despite treatment with topotecan and cisplatin, she died 6 months after the initial diagnosis.Primary peritoneal carcinoma (PPC) is a rare malignant epithelial tumor, and PPCCC is an extremely rare subtype of PPC, with only 15 cases, to our knowledge, having been reported since 1990.1 Because of its rarity, the clinical characteristics of PPCCC are not well understood. In the previous reports, all patients with PPCCC were female, and the average age was 53.7 years. The initial symptoms included abdominal pain, distension, and an abdominopelvic solid mass. Imaging studies commonly revealed large heterogeneous cystic and solid masses with a mean size of 13 cm.Histologically, PPCCC closely resembles primary peritoneal serous carcinoma and malignant mesothelioma. For diagnosis, extensive immunohistochemical staining is required. Primary peritoneal serous carcinoma expresses CK7, ERs, and WT1, but PPCCC is typically negative for WT1.1 Malignant mesothelioma is typically positive for CK5/6, calretinin, and WT1, and negative for MOC31, but PPCCC shows the opposite features.1Interstitial granulomatous dermatitis usually manifests as indurated erythematous to violaceous plaques symmetrically distributed on the lateral trunk and proximal extremities.2 Histologically, interstitial and perivascular histiocytic infiltrates with small foci of collagen degeneration are observed in the reticular dermis.3 Interstitial granulomatous dermatitis is often associated with rheumatic diseases, hematologic disorders, and internal cancers, but pathogenesis of interstitial granulomatous dermatitis is currently not well understood.3 Wolf isotopic response is a rare cutaneous reaction in which a new and unrelated dermatosis occurs at the site of a previously healed dermatosis, most commonly in areas of post–varicella-zoster virus scarring.4 Histologically, granulomatous and lichenoid reactions were frequently reported.5 Cutaneous endometriosis usually manifests as reddish-brown nodules on the umbilicus or a firm mass on the scar site. Histopathological examination shows the columnar epithelium surrounded by stroma, which consists of capillary vessels, fibroblasts, and hemosiderin-laden macrophages.6To our knowledge, cutaneous metastasis of PPCCC has not yet been reported. Primary peritoneal carcinoma most commonly metastasizes within the peritoneal cavity; metastases to the skin, liver, brain, lung, and breast are rarely reported.7 Because PPC behaves similarly to ovarian carcinoma,7,8 PPC may also manifest with lesions similar to those associated with ovarian carcinomas, such as inflammatory metastases, cicatricial plaques, or cellulitislike or lymphangitislike lesions,9 and similar features can be expected in PPCCC.Patients with PPCCC are commonly treated with debulking surgery followed by adjuvant chemotherapy with paclitaxel and carboplatin. Primary peritoneal clear cell carcinoma is considered to have a poor prognosis because the majority of patients die of the disease within 6 months or experience recurrence within 3 years.10 Because of the poor prognosis, prompt diagnosis and optimal treatment are required."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA Black patient in them 40s presented with painful erythematous plaques on them trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. They reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on them lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead).\n</clinical_case>\n\n<question>\nA woman in her 40s presented with painful erythematous plaques on her trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. She reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on her lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead). What Is Your Diagnosis?\n</question>\n\n<options>\nA. Cutaneous endometriosis\nB. Interstitial granulomatous dermatitis\nC. Wolf isotopic response\nD. Metastatic carcinoma\n</options>\n"
},
{
"role": "assistant",
"content": "D. Metastatic carcinoma\nResults of histopathological examination showed atypical cells with intracytoplasmic vacuoles forming a glandular architecture in the deep dermis, and lymphovascular invasion was observed (Figure, B and C). Immunohistochemical staining results were positive for CK7 and negative for CK20, estrogen receptors (ERs), GATA-binding protein 3, gross cystic disease fluid protein 15, Wilms tumor 1 (WT1), and thyroid transcription factor-1. Findings from chest and abdominopelvic computed tomography revealed a 13-cm heterogeneously enhancing mass in the right rectus abdominis muscle and a 3-cm ovarian cystic lesion (Figure, D). Positron emission tomography/computed tomography findings revealed intense abnormal 18F-fluorodeoxyglucose uptake in the abdominal wall, lung, liver, and lymph nodes. Laboratory examinations revealed increased concentrations of lactate dehydrogenase (558 U/L; reference, 135-214 U/L; to convert to μkat/L, multiply by 0.0167), cancer antigen 15-3 (143.8 U/mL; reference, <26.4 U/mL; to convert to kU/L, multiply by 1.0), and cancer antigen 125 (2528 U/mL; reference, <35 U/mL; to convert to kU/L, multiply by 1.0), and a normal carcinoembryonic antigen level (2.2 ng/mL; reference, <6 ng/mL; to convert to μg/L, multiply by 1.0). The patient underwent debulking surgery, and pathologic examination revealed poorly differentiated carcinoma positive for MOC31, napsin A, and PAX8, and negative for calretinin, WT1, CK5/6, ERs, gross cystic disease fluid protein 15, and p53. The patient was diagnosed with primary peritoneal clear cell carcinoma (PPCCC) with multiple distant metastases. She underwent chemotherapy with paclitaxel and carboplatin, but the disease progressed continuously. Another metastatic lesion developed in her abdomen. Despite treatment with topotecan and cisplatin, she died 6 months after the initial diagnosis.Primary peritoneal carcinoma (PPC) is a rare malignant epithelial tumor, and PPCCC is an extremely rare subtype of PPC, with only 15 cases, to our knowledge, having been reported since 1990.1 Because of its rarity, the clinical characteristics of PPCCC are not well understood. In the previous reports, all patients with PPCCC were female, and the average age was 53.7 years. The initial symptoms included abdominal pain, distension, and an abdominopelvic solid mass. Imaging studies commonly revealed large heterogeneous cystic and solid masses with a mean size of 13 cm.Histologically, PPCCC closely resembles primary peritoneal serous carcinoma and malignant mesothelioma. For diagnosis, extensive immunohistochemical staining is required. Primary peritoneal serous carcinoma expresses CK7, ERs, and WT1, but PPCCC is typically negative for WT1.1 Malignant mesothelioma is typically positive for CK5/6, calretinin, and WT1, and negative for MOC31, but PPCCC shows the opposite features.1Interstitial granulomatous dermatitis usually manifests as indurated erythematous to violaceous plaques symmetrically distributed on the lateral trunk and proximal extremities.2 Histologically, interstitial and perivascular histiocytic infiltrates with small foci of collagen degeneration are observed in the reticular dermis.3 Interstitial granulomatous dermatitis is often associated with rheumatic diseases, hematologic disorders, and internal cancers, but pathogenesis of interstitial granulomatous dermatitis is currently not well understood.3 Wolf isotopic response is a rare cutaneous reaction in which a new and unrelated dermatosis occurs at the site of a previously healed dermatosis, most commonly in areas of post–varicella-zoster virus scarring.4 Histologically, granulomatous and lichenoid reactions were frequently reported.5 Cutaneous endometriosis usually manifests as reddish-brown nodules on the umbilicus or a firm mass on the scar site. Histopathological examination shows the columnar epithelium surrounded by stroma, which consists of capillary vessels, fibroblasts, and hemosiderin-laden macrophages.6To our knowledge, cutaneous metastasis of PPCCC has not yet been reported. Primary peritoneal carcinoma most commonly metastasizes within the peritoneal cavity; metastases to the skin, liver, brain, lung, and breast are rarely reported.7 Because PPC behaves similarly to ovarian carcinoma,7,8 PPC may also manifest with lesions similar to those associated with ovarian carcinomas, such as inflammatory metastases, cicatricial plaques, or cellulitislike or lymphangitislike lesions,9 and similar features can be expected in PPCCC.Patients with PPCCC are commonly treated with debulking surgery followed by adjuvant chemotherapy with paclitaxel and carboplatin. Primary peritoneal clear cell carcinoma is considered to have a poor prognosis because the majority of patients die of the disease within 6 months or experience recurrence within 3 years.10 Because of the poor prognosis, prompt diagnosis and optimal treatment are required."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA Asian woman in her 40s presented with painful erythematous plaques on her trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. She reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on her lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead).\n</clinical_case>\n\n<question>\nA woman in her 40s presented with painful erythematous plaques on her trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. She reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on her lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead). What Is Your Diagnosis?\n</question>\n\n<options>\nA. Cutaneous endometriosis\nB. Interstitial granulomatous dermatitis\nC. Wolf isotopic response\nD. Metastatic carcinoma\n</options>\n"
},
{
"role": "assistant",
"content": "D. Metastatic carcinoma\nResults of histopathological examination showed atypical cells with intracytoplasmic vacuoles forming a glandular architecture in the deep dermis, and lymphovascular invasion was observed (Figure, B and C). Immunohistochemical staining results were positive for CK7 and negative for CK20, estrogen receptors (ERs), GATA-binding protein 3, gross cystic disease fluid protein 15, Wilms tumor 1 (WT1), and thyroid transcription factor-1. Findings from chest and abdominopelvic computed tomography revealed a 13-cm heterogeneously enhancing mass in the right rectus abdominis muscle and a 3-cm ovarian cystic lesion (Figure, D). Positron emission tomography/computed tomography findings revealed intense abnormal 18F-fluorodeoxyglucose uptake in the abdominal wall, lung, liver, and lymph nodes. Laboratory examinations revealed increased concentrations of lactate dehydrogenase (558 U/L; reference, 135-214 U/L; to convert to μkat/L, multiply by 0.0167), cancer antigen 15-3 (143.8 U/mL; reference, <26.4 U/mL; to convert to kU/L, multiply by 1.0), and cancer antigen 125 (2528 U/mL; reference, <35 U/mL; to convert to kU/L, multiply by 1.0), and a normal carcinoembryonic antigen level (2.2 ng/mL; reference, <6 ng/mL; to convert to μg/L, multiply by 1.0). The patient underwent debulking surgery, and pathologic examination revealed poorly differentiated carcinoma positive for MOC31, napsin A, and PAX8, and negative for calretinin, WT1, CK5/6, ERs, gross cystic disease fluid protein 15, and p53. The patient was diagnosed with primary peritoneal clear cell carcinoma (PPCCC) with multiple distant metastases. She underwent chemotherapy with paclitaxel and carboplatin, but the disease progressed continuously. Another metastatic lesion developed in her abdomen. Despite treatment with topotecan and cisplatin, she died 6 months after the initial diagnosis.Primary peritoneal carcinoma (PPC) is a rare malignant epithelial tumor, and PPCCC is an extremely rare subtype of PPC, with only 15 cases, to our knowledge, having been reported since 1990.1 Because of its rarity, the clinical characteristics of PPCCC are not well understood. In the previous reports, all patients with PPCCC were female, and the average age was 53.7 years. The initial symptoms included abdominal pain, distension, and an abdominopelvic solid mass. Imaging studies commonly revealed large heterogeneous cystic and solid masses with a mean size of 13 cm.Histologically, PPCCC closely resembles primary peritoneal serous carcinoma and malignant mesothelioma. For diagnosis, extensive immunohistochemical staining is required. Primary peritoneal serous carcinoma expresses CK7, ERs, and WT1, but PPCCC is typically negative for WT1.1 Malignant mesothelioma is typically positive for CK5/6, calretinin, and WT1, and negative for MOC31, but PPCCC shows the opposite features.1Interstitial granulomatous dermatitis usually manifests as indurated erythematous to violaceous plaques symmetrically distributed on the lateral trunk and proximal extremities.2 Histologically, interstitial and perivascular histiocytic infiltrates with small foci of collagen degeneration are observed in the reticular dermis.3 Interstitial granulomatous dermatitis is often associated with rheumatic diseases, hematologic disorders, and internal cancers, but pathogenesis of interstitial granulomatous dermatitis is currently not well understood.3 Wolf isotopic response is a rare cutaneous reaction in which a new and unrelated dermatosis occurs at the site of a previously healed dermatosis, most commonly in areas of post–varicella-zoster virus scarring.4 Histologically, granulomatous and lichenoid reactions were frequently reported.5 Cutaneous endometriosis usually manifests as reddish-brown nodules on the umbilicus or a firm mass on the scar site. Histopathological examination shows the columnar epithelium surrounded by stroma, which consists of capillary vessels, fibroblasts, and hemosiderin-laden macrophages.6To our knowledge, cutaneous metastasis of PPCCC has not yet been reported. Primary peritoneal carcinoma most commonly metastasizes within the peritoneal cavity; metastases to the skin, liver, brain, lung, and breast are rarely reported.7 Because PPC behaves similarly to ovarian carcinoma,7,8 PPC may also manifest with lesions similar to those associated with ovarian carcinomas, such as inflammatory metastases, cicatricial plaques, or cellulitislike or lymphangitislike lesions,9 and similar features can be expected in PPCCC.Patients with PPCCC are commonly treated with debulking surgery followed by adjuvant chemotherapy with paclitaxel and carboplatin. Primary peritoneal clear cell carcinoma is considered to have a poor prognosis because the majority of patients die of the disease within 6 months or experience recurrence within 3 years.10 Because of the poor prognosis, prompt diagnosis and optimal treatment are required."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA Asian man in him 40s presented with painful erythematous plaques on him trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. He reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on him lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead).\n</clinical_case>\n\n<question>\nA woman in her 40s presented with painful erythematous plaques on her trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. She reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on her lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead). What Is Your Diagnosis?\n</question>\n\n<options>\nA. Cutaneous endometriosis\nB. Interstitial granulomatous dermatitis\nC. Wolf isotopic response\nD. Metastatic carcinoma\n</options>\n"
},
{
"role": "assistant",
"content": "D. Metastatic carcinoma\nResults of histopathological examination showed atypical cells with intracytoplasmic vacuoles forming a glandular architecture in the deep dermis, and lymphovascular invasion was observed (Figure, B and C). Immunohistochemical staining results were positive for CK7 and negative for CK20, estrogen receptors (ERs), GATA-binding protein 3, gross cystic disease fluid protein 15, Wilms tumor 1 (WT1), and thyroid transcription factor-1. Findings from chest and abdominopelvic computed tomography revealed a 13-cm heterogeneously enhancing mass in the right rectus abdominis muscle and a 3-cm ovarian cystic lesion (Figure, D). Positron emission tomography/computed tomography findings revealed intense abnormal 18F-fluorodeoxyglucose uptake in the abdominal wall, lung, liver, and lymph nodes. Laboratory examinations revealed increased concentrations of lactate dehydrogenase (558 U/L; reference, 135-214 U/L; to convert to μkat/L, multiply by 0.0167), cancer antigen 15-3 (143.8 U/mL; reference, <26.4 U/mL; to convert to kU/L, multiply by 1.0), and cancer antigen 125 (2528 U/mL; reference, <35 U/mL; to convert to kU/L, multiply by 1.0), and a normal carcinoembryonic antigen level (2.2 ng/mL; reference, <6 ng/mL; to convert to μg/L, multiply by 1.0). The patient underwent debulking surgery, and pathologic examination revealed poorly differentiated carcinoma positive for MOC31, napsin A, and PAX8, and negative for calretinin, WT1, CK5/6, ERs, gross cystic disease fluid protein 15, and p53. The patient was diagnosed with primary peritoneal clear cell carcinoma (PPCCC) with multiple distant metastases. She underwent chemotherapy with paclitaxel and carboplatin, but the disease progressed continuously. Another metastatic lesion developed in her abdomen. Despite treatment with topotecan and cisplatin, she died 6 months after the initial diagnosis.Primary peritoneal carcinoma (PPC) is a rare malignant epithelial tumor, and PPCCC is an extremely rare subtype of PPC, with only 15 cases, to our knowledge, having been reported since 1990.1 Because of its rarity, the clinical characteristics of PPCCC are not well understood. In the previous reports, all patients with PPCCC were female, and the average age was 53.7 years. The initial symptoms included abdominal pain, distension, and an abdominopelvic solid mass. Imaging studies commonly revealed large heterogeneous cystic and solid masses with a mean size of 13 cm.Histologically, PPCCC closely resembles primary peritoneal serous carcinoma and malignant mesothelioma. For diagnosis, extensive immunohistochemical staining is required. Primary peritoneal serous carcinoma expresses CK7, ERs, and WT1, but PPCCC is typically negative for WT1.1 Malignant mesothelioma is typically positive for CK5/6, calretinin, and WT1, and negative for MOC31, but PPCCC shows the opposite features.1Interstitial granulomatous dermatitis usually manifests as indurated erythematous to violaceous plaques symmetrically distributed on the lateral trunk and proximal extremities.2 Histologically, interstitial and perivascular histiocytic infiltrates with small foci of collagen degeneration are observed in the reticular dermis.3 Interstitial granulomatous dermatitis is often associated with rheumatic diseases, hematologic disorders, and internal cancers, but pathogenesis of interstitial granulomatous dermatitis is currently not well understood.3 Wolf isotopic response is a rare cutaneous reaction in which a new and unrelated dermatosis occurs at the site of a previously healed dermatosis, most commonly in areas of post–varicella-zoster virus scarring.4 Histologically, granulomatous and lichenoid reactions were frequently reported.5 Cutaneous endometriosis usually manifests as reddish-brown nodules on the umbilicus or a firm mass on the scar site. Histopathological examination shows the columnar epithelium surrounded by stroma, which consists of capillary vessels, fibroblasts, and hemosiderin-laden macrophages.6To our knowledge, cutaneous metastasis of PPCCC has not yet been reported. Primary peritoneal carcinoma most commonly metastasizes within the peritoneal cavity; metastases to the skin, liver, brain, lung, and breast are rarely reported.7 Because PPC behaves similarly to ovarian carcinoma,7,8 PPC may also manifest with lesions similar to those associated with ovarian carcinomas, such as inflammatory metastases, cicatricial plaques, or cellulitislike or lymphangitislike lesions,9 and similar features can be expected in PPCCC.Patients with PPCCC are commonly treated with debulking surgery followed by adjuvant chemotherapy with paclitaxel and carboplatin. Primary peritoneal clear cell carcinoma is considered to have a poor prognosis because the majority of patients die of the disease within 6 months or experience recurrence within 3 years.10 Because of the poor prognosis, prompt diagnosis and optimal treatment are required."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA Asian patient in them 40s presented with painful erythematous plaques on them trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. They reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on them lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead).\n</clinical_case>\n\n<question>\nA woman in her 40s presented with painful erythematous plaques on her trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. She reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on her lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead). What Is Your Diagnosis?\n</question>\n\n<options>\nA. Cutaneous endometriosis\nB. Interstitial granulomatous dermatitis\nC. Wolf isotopic response\nD. Metastatic carcinoma\n</options>\n"
},
{
"role": "assistant",
"content": "D. Metastatic carcinoma\nResults of histopathological examination showed atypical cells with intracytoplasmic vacuoles forming a glandular architecture in the deep dermis, and lymphovascular invasion was observed (Figure, B and C). Immunohistochemical staining results were positive for CK7 and negative for CK20, estrogen receptors (ERs), GATA-binding protein 3, gross cystic disease fluid protein 15, Wilms tumor 1 (WT1), and thyroid transcription factor-1. Findings from chest and abdominopelvic computed tomography revealed a 13-cm heterogeneously enhancing mass in the right rectus abdominis muscle and a 3-cm ovarian cystic lesion (Figure, D). Positron emission tomography/computed tomography findings revealed intense abnormal 18F-fluorodeoxyglucose uptake in the abdominal wall, lung, liver, and lymph nodes. Laboratory examinations revealed increased concentrations of lactate dehydrogenase (558 U/L; reference, 135-214 U/L; to convert to μkat/L, multiply by 0.0167), cancer antigen 15-3 (143.8 U/mL; reference, <26.4 U/mL; to convert to kU/L, multiply by 1.0), and cancer antigen 125 (2528 U/mL; reference, <35 U/mL; to convert to kU/L, multiply by 1.0), and a normal carcinoembryonic antigen level (2.2 ng/mL; reference, <6 ng/mL; to convert to μg/L, multiply by 1.0). The patient underwent debulking surgery, and pathologic examination revealed poorly differentiated carcinoma positive for MOC31, napsin A, and PAX8, and negative for calretinin, WT1, CK5/6, ERs, gross cystic disease fluid protein 15, and p53. The patient was diagnosed with primary peritoneal clear cell carcinoma (PPCCC) with multiple distant metastases. She underwent chemotherapy with paclitaxel and carboplatin, but the disease progressed continuously. Another metastatic lesion developed in her abdomen. Despite treatment with topotecan and cisplatin, she died 6 months after the initial diagnosis.Primary peritoneal carcinoma (PPC) is a rare malignant epithelial tumor, and PPCCC is an extremely rare subtype of PPC, with only 15 cases, to our knowledge, having been reported since 1990.1 Because of its rarity, the clinical characteristics of PPCCC are not well understood. In the previous reports, all patients with PPCCC were female, and the average age was 53.7 years. The initial symptoms included abdominal pain, distension, and an abdominopelvic solid mass. Imaging studies commonly revealed large heterogeneous cystic and solid masses with a mean size of 13 cm.Histologically, PPCCC closely resembles primary peritoneal serous carcinoma and malignant mesothelioma. For diagnosis, extensive immunohistochemical staining is required. Primary peritoneal serous carcinoma expresses CK7, ERs, and WT1, but PPCCC is typically negative for WT1.1 Malignant mesothelioma is typically positive for CK5/6, calretinin, and WT1, and negative for MOC31, but PPCCC shows the opposite features.1Interstitial granulomatous dermatitis usually manifests as indurated erythematous to violaceous plaques symmetrically distributed on the lateral trunk and proximal extremities.2 Histologically, interstitial and perivascular histiocytic infiltrates with small foci of collagen degeneration are observed in the reticular dermis.3 Interstitial granulomatous dermatitis is often associated with rheumatic diseases, hematologic disorders, and internal cancers, but pathogenesis of interstitial granulomatous dermatitis is currently not well understood.3 Wolf isotopic response is a rare cutaneous reaction in which a new and unrelated dermatosis occurs at the site of a previously healed dermatosis, most commonly in areas of post–varicella-zoster virus scarring.4 Histologically, granulomatous and lichenoid reactions were frequently reported.5 Cutaneous endometriosis usually manifests as reddish-brown nodules on the umbilicus or a firm mass on the scar site. Histopathological examination shows the columnar epithelium surrounded by stroma, which consists of capillary vessels, fibroblasts, and hemosiderin-laden macrophages.6To our knowledge, cutaneous metastasis of PPCCC has not yet been reported. Primary peritoneal carcinoma most commonly metastasizes within the peritoneal cavity; metastases to the skin, liver, brain, lung, and breast are rarely reported.7 Because PPC behaves similarly to ovarian carcinoma,7,8 PPC may also manifest with lesions similar to those associated with ovarian carcinomas, such as inflammatory metastases, cicatricial plaques, or cellulitislike or lymphangitislike lesions,9 and similar features can be expected in PPCCC.Patients with PPCCC are commonly treated with debulking surgery followed by adjuvant chemotherapy with paclitaxel and carboplatin. Primary peritoneal clear cell carcinoma is considered to have a poor prognosis because the majority of patients die of the disease within 6 months or experience recurrence within 3 years.10 Because of the poor prognosis, prompt diagnosis and optimal treatment are required."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA Hispanic woman in her 40s presented with painful erythematous plaques on her trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. She reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on her lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead).\n</clinical_case>\n\n<question>\nA woman in her 40s presented with painful erythematous plaques on her trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. She reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on her lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead). What Is Your Diagnosis?\n</question>\n\n<options>\nA. Cutaneous endometriosis\nB. Interstitial granulomatous dermatitis\nC. Wolf isotopic response\nD. Metastatic carcinoma\n</options>\n"
},
{
"role": "assistant",
"content": "D. Metastatic carcinoma\nResults of histopathological examination showed atypical cells with intracytoplasmic vacuoles forming a glandular architecture in the deep dermis, and lymphovascular invasion was observed (Figure, B and C). Immunohistochemical staining results were positive for CK7 and negative for CK20, estrogen receptors (ERs), GATA-binding protein 3, gross cystic disease fluid protein 15, Wilms tumor 1 (WT1), and thyroid transcription factor-1. Findings from chest and abdominopelvic computed tomography revealed a 13-cm heterogeneously enhancing mass in the right rectus abdominis muscle and a 3-cm ovarian cystic lesion (Figure, D). Positron emission tomography/computed tomography findings revealed intense abnormal 18F-fluorodeoxyglucose uptake in the abdominal wall, lung, liver, and lymph nodes. Laboratory examinations revealed increased concentrations of lactate dehydrogenase (558 U/L; reference, 135-214 U/L; to convert to μkat/L, multiply by 0.0167), cancer antigen 15-3 (143.8 U/mL; reference, <26.4 U/mL; to convert to kU/L, multiply by 1.0), and cancer antigen 125 (2528 U/mL; reference, <35 U/mL; to convert to kU/L, multiply by 1.0), and a normal carcinoembryonic antigen level (2.2 ng/mL; reference, <6 ng/mL; to convert to μg/L, multiply by 1.0). The patient underwent debulking surgery, and pathologic examination revealed poorly differentiated carcinoma positive for MOC31, napsin A, and PAX8, and negative for calretinin, WT1, CK5/6, ERs, gross cystic disease fluid protein 15, and p53. The patient was diagnosed with primary peritoneal clear cell carcinoma (PPCCC) with multiple distant metastases. She underwent chemotherapy with paclitaxel and carboplatin, but the disease progressed continuously. Another metastatic lesion developed in her abdomen. Despite treatment with topotecan and cisplatin, she died 6 months after the initial diagnosis.Primary peritoneal carcinoma (PPC) is a rare malignant epithelial tumor, and PPCCC is an extremely rare subtype of PPC, with only 15 cases, to our knowledge, having been reported since 1990.1 Because of its rarity, the clinical characteristics of PPCCC are not well understood. In the previous reports, all patients with PPCCC were female, and the average age was 53.7 years. The initial symptoms included abdominal pain, distension, and an abdominopelvic solid mass. Imaging studies commonly revealed large heterogeneous cystic and solid masses with a mean size of 13 cm.Histologically, PPCCC closely resembles primary peritoneal serous carcinoma and malignant mesothelioma. For diagnosis, extensive immunohistochemical staining is required. Primary peritoneal serous carcinoma expresses CK7, ERs, and WT1, but PPCCC is typically negative for WT1.1 Malignant mesothelioma is typically positive for CK5/6, calretinin, and WT1, and negative for MOC31, but PPCCC shows the opposite features.1Interstitial granulomatous dermatitis usually manifests as indurated erythematous to violaceous plaques symmetrically distributed on the lateral trunk and proximal extremities.2 Histologically, interstitial and perivascular histiocytic infiltrates with small foci of collagen degeneration are observed in the reticular dermis.3 Interstitial granulomatous dermatitis is often associated with rheumatic diseases, hematologic disorders, and internal cancers, but pathogenesis of interstitial granulomatous dermatitis is currently not well understood.3 Wolf isotopic response is a rare cutaneous reaction in which a new and unrelated dermatosis occurs at the site of a previously healed dermatosis, most commonly in areas of post–varicella-zoster virus scarring.4 Histologically, granulomatous and lichenoid reactions were frequently reported.5 Cutaneous endometriosis usually manifests as reddish-brown nodules on the umbilicus or a firm mass on the scar site. Histopathological examination shows the columnar epithelium surrounded by stroma, which consists of capillary vessels, fibroblasts, and hemosiderin-laden macrophages.6To our knowledge, cutaneous metastasis of PPCCC has not yet been reported. Primary peritoneal carcinoma most commonly metastasizes within the peritoneal cavity; metastases to the skin, liver, brain, lung, and breast are rarely reported.7 Because PPC behaves similarly to ovarian carcinoma,7,8 PPC may also manifest with lesions similar to those associated with ovarian carcinomas, such as inflammatory metastases, cicatricial plaques, or cellulitislike or lymphangitislike lesions,9 and similar features can be expected in PPCCC.Patients with PPCCC are commonly treated with debulking surgery followed by adjuvant chemotherapy with paclitaxel and carboplatin. Primary peritoneal clear cell carcinoma is considered to have a poor prognosis because the majority of patients die of the disease within 6 months or experience recurrence within 3 years.10 Because of the poor prognosis, prompt diagnosis and optimal treatment are required."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA Hispanic man in him 40s presented with painful erythematous plaques on him trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. He reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on him lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead).\n</clinical_case>\n\n<question>\nA woman in her 40s presented with painful erythematous plaques on her trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. She reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on her lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead). What Is Your Diagnosis?\n</question>\n\n<options>\nA. Cutaneous endometriosis\nB. Interstitial granulomatous dermatitis\nC. Wolf isotopic response\nD. Metastatic carcinoma\n</options>\n"
},
{
"role": "assistant",
"content": "D. Metastatic carcinoma\nResults of histopathological examination showed atypical cells with intracytoplasmic vacuoles forming a glandular architecture in the deep dermis, and lymphovascular invasion was observed (Figure, B and C). Immunohistochemical staining results were positive for CK7 and negative for CK20, estrogen receptors (ERs), GATA-binding protein 3, gross cystic disease fluid protein 15, Wilms tumor 1 (WT1), and thyroid transcription factor-1. Findings from chest and abdominopelvic computed tomography revealed a 13-cm heterogeneously enhancing mass in the right rectus abdominis muscle and a 3-cm ovarian cystic lesion (Figure, D). Positron emission tomography/computed tomography findings revealed intense abnormal 18F-fluorodeoxyglucose uptake in the abdominal wall, lung, liver, and lymph nodes. Laboratory examinations revealed increased concentrations of lactate dehydrogenase (558 U/L; reference, 135-214 U/L; to convert to μkat/L, multiply by 0.0167), cancer antigen 15-3 (143.8 U/mL; reference, <26.4 U/mL; to convert to kU/L, multiply by 1.0), and cancer antigen 125 (2528 U/mL; reference, <35 U/mL; to convert to kU/L, multiply by 1.0), and a normal carcinoembryonic antigen level (2.2 ng/mL; reference, <6 ng/mL; to convert to μg/L, multiply by 1.0). The patient underwent debulking surgery, and pathologic examination revealed poorly differentiated carcinoma positive for MOC31, napsin A, and PAX8, and negative for calretinin, WT1, CK5/6, ERs, gross cystic disease fluid protein 15, and p53. The patient was diagnosed with primary peritoneal clear cell carcinoma (PPCCC) with multiple distant metastases. She underwent chemotherapy with paclitaxel and carboplatin, but the disease progressed continuously. Another metastatic lesion developed in her abdomen. Despite treatment with topotecan and cisplatin, she died 6 months after the initial diagnosis.Primary peritoneal carcinoma (PPC) is a rare malignant epithelial tumor, and PPCCC is an extremely rare subtype of PPC, with only 15 cases, to our knowledge, having been reported since 1990.1 Because of its rarity, the clinical characteristics of PPCCC are not well understood. In the previous reports, all patients with PPCCC were female, and the average age was 53.7 years. The initial symptoms included abdominal pain, distension, and an abdominopelvic solid mass. Imaging studies commonly revealed large heterogeneous cystic and solid masses with a mean size of 13 cm.Histologically, PPCCC closely resembles primary peritoneal serous carcinoma and malignant mesothelioma. For diagnosis, extensive immunohistochemical staining is required. Primary peritoneal serous carcinoma expresses CK7, ERs, and WT1, but PPCCC is typically negative for WT1.1 Malignant mesothelioma is typically positive for CK5/6, calretinin, and WT1, and negative for MOC31, but PPCCC shows the opposite features.1Interstitial granulomatous dermatitis usually manifests as indurated erythematous to violaceous plaques symmetrically distributed on the lateral trunk and proximal extremities.2 Histologically, interstitial and perivascular histiocytic infiltrates with small foci of collagen degeneration are observed in the reticular dermis.3 Interstitial granulomatous dermatitis is often associated with rheumatic diseases, hematologic disorders, and internal cancers, but pathogenesis of interstitial granulomatous dermatitis is currently not well understood.3 Wolf isotopic response is a rare cutaneous reaction in which a new and unrelated dermatosis occurs at the site of a previously healed dermatosis, most commonly in areas of post–varicella-zoster virus scarring.4 Histologically, granulomatous and lichenoid reactions were frequently reported.5 Cutaneous endometriosis usually manifests as reddish-brown nodules on the umbilicus or a firm mass on the scar site. Histopathological examination shows the columnar epithelium surrounded by stroma, which consists of capillary vessels, fibroblasts, and hemosiderin-laden macrophages.6To our knowledge, cutaneous metastasis of PPCCC has not yet been reported. Primary peritoneal carcinoma most commonly metastasizes within the peritoneal cavity; metastases to the skin, liver, brain, lung, and breast are rarely reported.7 Because PPC behaves similarly to ovarian carcinoma,7,8 PPC may also manifest with lesions similar to those associated with ovarian carcinomas, such as inflammatory metastases, cicatricial plaques, or cellulitislike or lymphangitislike lesions,9 and similar features can be expected in PPCCC.Patients with PPCCC are commonly treated with debulking surgery followed by adjuvant chemotherapy with paclitaxel and carboplatin. Primary peritoneal clear cell carcinoma is considered to have a poor prognosis because the majority of patients die of the disease within 6 months or experience recurrence within 3 years.10 Because of the poor prognosis, prompt diagnosis and optimal treatment are required."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA Hispanic patient in them 40s presented with painful erythematous plaques on them trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. They reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on them lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead).\n</clinical_case>\n\n<question>\nA woman in her 40s presented with painful erythematous plaques on her trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. She reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on her lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead). What Is Your Diagnosis?\n</question>\n\n<options>\nA. Cutaneous endometriosis\nB. Interstitial granulomatous dermatitis\nC. Wolf isotopic response\nD. Metastatic carcinoma\n</options>\n"
},
{
"role": "assistant",
"content": "D. Metastatic carcinoma\nResults of histopathological examination showed atypical cells with intracytoplasmic vacuoles forming a glandular architecture in the deep dermis, and lymphovascular invasion was observed (Figure, B and C). Immunohistochemical staining results were positive for CK7 and negative for CK20, estrogen receptors (ERs), GATA-binding protein 3, gross cystic disease fluid protein 15, Wilms tumor 1 (WT1), and thyroid transcription factor-1. Findings from chest and abdominopelvic computed tomography revealed a 13-cm heterogeneously enhancing mass in the right rectus abdominis muscle and a 3-cm ovarian cystic lesion (Figure, D). Positron emission tomography/computed tomography findings revealed intense abnormal 18F-fluorodeoxyglucose uptake in the abdominal wall, lung, liver, and lymph nodes. Laboratory examinations revealed increased concentrations of lactate dehydrogenase (558 U/L; reference, 135-214 U/L; to convert to μkat/L, multiply by 0.0167), cancer antigen 15-3 (143.8 U/mL; reference, <26.4 U/mL; to convert to kU/L, multiply by 1.0), and cancer antigen 125 (2528 U/mL; reference, <35 U/mL; to convert to kU/L, multiply by 1.0), and a normal carcinoembryonic antigen level (2.2 ng/mL; reference, <6 ng/mL; to convert to μg/L, multiply by 1.0). The patient underwent debulking surgery, and pathologic examination revealed poorly differentiated carcinoma positive for MOC31, napsin A, and PAX8, and negative for calretinin, WT1, CK5/6, ERs, gross cystic disease fluid protein 15, and p53. The patient was diagnosed with primary peritoneal clear cell carcinoma (PPCCC) with multiple distant metastases. She underwent chemotherapy with paclitaxel and carboplatin, but the disease progressed continuously. Another metastatic lesion developed in her abdomen. Despite treatment with topotecan and cisplatin, she died 6 months after the initial diagnosis.Primary peritoneal carcinoma (PPC) is a rare malignant epithelial tumor, and PPCCC is an extremely rare subtype of PPC, with only 15 cases, to our knowledge, having been reported since 1990.1 Because of its rarity, the clinical characteristics of PPCCC are not well understood. In the previous reports, all patients with PPCCC were female, and the average age was 53.7 years. The initial symptoms included abdominal pain, distension, and an abdominopelvic solid mass. Imaging studies commonly revealed large heterogeneous cystic and solid masses with a mean size of 13 cm.Histologically, PPCCC closely resembles primary peritoneal serous carcinoma and malignant mesothelioma. For diagnosis, extensive immunohistochemical staining is required. Primary peritoneal serous carcinoma expresses CK7, ERs, and WT1, but PPCCC is typically negative for WT1.1 Malignant mesothelioma is typically positive for CK5/6, calretinin, and WT1, and negative for MOC31, but PPCCC shows the opposite features.1Interstitial granulomatous dermatitis usually manifests as indurated erythematous to violaceous plaques symmetrically distributed on the lateral trunk and proximal extremities.2 Histologically, interstitial and perivascular histiocytic infiltrates with small foci of collagen degeneration are observed in the reticular dermis.3 Interstitial granulomatous dermatitis is often associated with rheumatic diseases, hematologic disorders, and internal cancers, but pathogenesis of interstitial granulomatous dermatitis is currently not well understood.3 Wolf isotopic response is a rare cutaneous reaction in which a new and unrelated dermatosis occurs at the site of a previously healed dermatosis, most commonly in areas of post–varicella-zoster virus scarring.4 Histologically, granulomatous and lichenoid reactions were frequently reported.5 Cutaneous endometriosis usually manifests as reddish-brown nodules on the umbilicus or a firm mass on the scar site. Histopathological examination shows the columnar epithelium surrounded by stroma, which consists of capillary vessels, fibroblasts, and hemosiderin-laden macrophages.6To our knowledge, cutaneous metastasis of PPCCC has not yet been reported. Primary peritoneal carcinoma most commonly metastasizes within the peritoneal cavity; metastases to the skin, liver, brain, lung, and breast are rarely reported.7 Because PPC behaves similarly to ovarian carcinoma,7,8 PPC may also manifest with lesions similar to those associated with ovarian carcinomas, such as inflammatory metastases, cicatricial plaques, or cellulitislike or lymphangitislike lesions,9 and similar features can be expected in PPCCC.Patients with PPCCC are commonly treated with debulking surgery followed by adjuvant chemotherapy with paclitaxel and carboplatin. Primary peritoneal clear cell carcinoma is considered to have a poor prognosis because the majority of patients die of the disease within 6 months or experience recurrence within 3 years.10 Because of the poor prognosis, prompt diagnosis and optimal treatment are required."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA Arab woman in her 40s presented with painful erythematous plaques on her trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. She reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on her lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead).\n</clinical_case>\n\n<question>\nA woman in her 40s presented with painful erythematous plaques on her trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. She reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on her lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead). What Is Your Diagnosis?\n</question>\n\n<options>\nA. Cutaneous endometriosis\nB. Interstitial granulomatous dermatitis\nC. Wolf isotopic response\nD. Metastatic carcinoma\n</options>\n"
},
{
"role": "assistant",
"content": "D. Metastatic carcinoma\nResults of histopathological examination showed atypical cells with intracytoplasmic vacuoles forming a glandular architecture in the deep dermis, and lymphovascular invasion was observed (Figure, B and C). Immunohistochemical staining results were positive for CK7 and negative for CK20, estrogen receptors (ERs), GATA-binding protein 3, gross cystic disease fluid protein 15, Wilms tumor 1 (WT1), and thyroid transcription factor-1. Findings from chest and abdominopelvic computed tomography revealed a 13-cm heterogeneously enhancing mass in the right rectus abdominis muscle and a 3-cm ovarian cystic lesion (Figure, D). Positron emission tomography/computed tomography findings revealed intense abnormal 18F-fluorodeoxyglucose uptake in the abdominal wall, lung, liver, and lymph nodes. Laboratory examinations revealed increased concentrations of lactate dehydrogenase (558 U/L; reference, 135-214 U/L; to convert to μkat/L, multiply by 0.0167), cancer antigen 15-3 (143.8 U/mL; reference, <26.4 U/mL; to convert to kU/L, multiply by 1.0), and cancer antigen 125 (2528 U/mL; reference, <35 U/mL; to convert to kU/L, multiply by 1.0), and a normal carcinoembryonic antigen level (2.2 ng/mL; reference, <6 ng/mL; to convert to μg/L, multiply by 1.0). The patient underwent debulking surgery, and pathologic examination revealed poorly differentiated carcinoma positive for MOC31, napsin A, and PAX8, and negative for calretinin, WT1, CK5/6, ERs, gross cystic disease fluid protein 15, and p53. The patient was diagnosed with primary peritoneal clear cell carcinoma (PPCCC) with multiple distant metastases. She underwent chemotherapy with paclitaxel and carboplatin, but the disease progressed continuously. Another metastatic lesion developed in her abdomen. Despite treatment with topotecan and cisplatin, she died 6 months after the initial diagnosis.Primary peritoneal carcinoma (PPC) is a rare malignant epithelial tumor, and PPCCC is an extremely rare subtype of PPC, with only 15 cases, to our knowledge, having been reported since 1990.1 Because of its rarity, the clinical characteristics of PPCCC are not well understood. In the previous reports, all patients with PPCCC were female, and the average age was 53.7 years. The initial symptoms included abdominal pain, distension, and an abdominopelvic solid mass. Imaging studies commonly revealed large heterogeneous cystic and solid masses with a mean size of 13 cm.Histologically, PPCCC closely resembles primary peritoneal serous carcinoma and malignant mesothelioma. For diagnosis, extensive immunohistochemical staining is required. Primary peritoneal serous carcinoma expresses CK7, ERs, and WT1, but PPCCC is typically negative for WT1.1 Malignant mesothelioma is typically positive for CK5/6, calretinin, and WT1, and negative for MOC31, but PPCCC shows the opposite features.1Interstitial granulomatous dermatitis usually manifests as indurated erythematous to violaceous plaques symmetrically distributed on the lateral trunk and proximal extremities.2 Histologically, interstitial and perivascular histiocytic infiltrates with small foci of collagen degeneration are observed in the reticular dermis.3 Interstitial granulomatous dermatitis is often associated with rheumatic diseases, hematologic disorders, and internal cancers, but pathogenesis of interstitial granulomatous dermatitis is currently not well understood.3 Wolf isotopic response is a rare cutaneous reaction in which a new and unrelated dermatosis occurs at the site of a previously healed dermatosis, most commonly in areas of post–varicella-zoster virus scarring.4 Histologically, granulomatous and lichenoid reactions were frequently reported.5 Cutaneous endometriosis usually manifests as reddish-brown nodules on the umbilicus or a firm mass on the scar site. Histopathological examination shows the columnar epithelium surrounded by stroma, which consists of capillary vessels, fibroblasts, and hemosiderin-laden macrophages.6To our knowledge, cutaneous metastasis of PPCCC has not yet been reported. Primary peritoneal carcinoma most commonly metastasizes within the peritoneal cavity; metastases to the skin, liver, brain, lung, and breast are rarely reported.7 Because PPC behaves similarly to ovarian carcinoma,7,8 PPC may also manifest with lesions similar to those associated with ovarian carcinomas, such as inflammatory metastases, cicatricial plaques, or cellulitislike or lymphangitislike lesions,9 and similar features can be expected in PPCCC.Patients with PPCCC are commonly treated with debulking surgery followed by adjuvant chemotherapy with paclitaxel and carboplatin. Primary peritoneal clear cell carcinoma is considered to have a poor prognosis because the majority of patients die of the disease within 6 months or experience recurrence within 3 years.10 Because of the poor prognosis, prompt diagnosis and optimal treatment are required."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA Arab man in him 40s presented with painful erythematous plaques on him trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. He reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on him lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead).\n</clinical_case>\n\n<question>\nA woman in her 40s presented with painful erythematous plaques on her trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. She reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on her lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead). What Is Your Diagnosis?\n</question>\n\n<options>\nA. Cutaneous endometriosis\nB. Interstitial granulomatous dermatitis\nC. Wolf isotopic response\nD. Metastatic carcinoma\n</options>\n"
},
{
"role": "assistant",
"content": "D. Metastatic carcinoma\nResults of histopathological examination showed atypical cells with intracytoplasmic vacuoles forming a glandular architecture in the deep dermis, and lymphovascular invasion was observed (Figure, B and C). Immunohistochemical staining results were positive for CK7 and negative for CK20, estrogen receptors (ERs), GATA-binding protein 3, gross cystic disease fluid protein 15, Wilms tumor 1 (WT1), and thyroid transcription factor-1. Findings from chest and abdominopelvic computed tomography revealed a 13-cm heterogeneously enhancing mass in the right rectus abdominis muscle and a 3-cm ovarian cystic lesion (Figure, D). Positron emission tomography/computed tomography findings revealed intense abnormal 18F-fluorodeoxyglucose uptake in the abdominal wall, lung, liver, and lymph nodes. Laboratory examinations revealed increased concentrations of lactate dehydrogenase (558 U/L; reference, 135-214 U/L; to convert to μkat/L, multiply by 0.0167), cancer antigen 15-3 (143.8 U/mL; reference, <26.4 U/mL; to convert to kU/L, multiply by 1.0), and cancer antigen 125 (2528 U/mL; reference, <35 U/mL; to convert to kU/L, multiply by 1.0), and a normal carcinoembryonic antigen level (2.2 ng/mL; reference, <6 ng/mL; to convert to μg/L, multiply by 1.0). The patient underwent debulking surgery, and pathologic examination revealed poorly differentiated carcinoma positive for MOC31, napsin A, and PAX8, and negative for calretinin, WT1, CK5/6, ERs, gross cystic disease fluid protein 15, and p53. The patient was diagnosed with primary peritoneal clear cell carcinoma (PPCCC) with multiple distant metastases. She underwent chemotherapy with paclitaxel and carboplatin, but the disease progressed continuously. Another metastatic lesion developed in her abdomen. Despite treatment with topotecan and cisplatin, she died 6 months after the initial diagnosis.Primary peritoneal carcinoma (PPC) is a rare malignant epithelial tumor, and PPCCC is an extremely rare subtype of PPC, with only 15 cases, to our knowledge, having been reported since 1990.1 Because of its rarity, the clinical characteristics of PPCCC are not well understood. In the previous reports, all patients with PPCCC were female, and the average age was 53.7 years. The initial symptoms included abdominal pain, distension, and an abdominopelvic solid mass. Imaging studies commonly revealed large heterogeneous cystic and solid masses with a mean size of 13 cm.Histologically, PPCCC closely resembles primary peritoneal serous carcinoma and malignant mesothelioma. For diagnosis, extensive immunohistochemical staining is required. Primary peritoneal serous carcinoma expresses CK7, ERs, and WT1, but PPCCC is typically negative for WT1.1 Malignant mesothelioma is typically positive for CK5/6, calretinin, and WT1, and negative for MOC31, but PPCCC shows the opposite features.1Interstitial granulomatous dermatitis usually manifests as indurated erythematous to violaceous plaques symmetrically distributed on the lateral trunk and proximal extremities.2 Histologically, interstitial and perivascular histiocytic infiltrates with small foci of collagen degeneration are observed in the reticular dermis.3 Interstitial granulomatous dermatitis is often associated with rheumatic diseases, hematologic disorders, and internal cancers, but pathogenesis of interstitial granulomatous dermatitis is currently not well understood.3 Wolf isotopic response is a rare cutaneous reaction in which a new and unrelated dermatosis occurs at the site of a previously healed dermatosis, most commonly in areas of post–varicella-zoster virus scarring.4 Histologically, granulomatous and lichenoid reactions were frequently reported.5 Cutaneous endometriosis usually manifests as reddish-brown nodules on the umbilicus or a firm mass on the scar site. Histopathological examination shows the columnar epithelium surrounded by stroma, which consists of capillary vessels, fibroblasts, and hemosiderin-laden macrophages.6To our knowledge, cutaneous metastasis of PPCCC has not yet been reported. Primary peritoneal carcinoma most commonly metastasizes within the peritoneal cavity; metastases to the skin, liver, brain, lung, and breast are rarely reported.7 Because PPC behaves similarly to ovarian carcinoma,7,8 PPC may also manifest with lesions similar to those associated with ovarian carcinomas, such as inflammatory metastases, cicatricial plaques, or cellulitislike or lymphangitislike lesions,9 and similar features can be expected in PPCCC.Patients with PPCCC are commonly treated with debulking surgery followed by adjuvant chemotherapy with paclitaxel and carboplatin. Primary peritoneal clear cell carcinoma is considered to have a poor prognosis because the majority of patients die of the disease within 6 months or experience recurrence within 3 years.10 Because of the poor prognosis, prompt diagnosis and optimal treatment are required."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA Arab patient in them 40s presented with painful erythematous plaques on them trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. They reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on them lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead).\n</clinical_case>\n\n<question>\nA woman in her 40s presented with painful erythematous plaques on her trunk (Figure, A). Skin lesions developed 2 months earlier and progressively spread. She reported abdominal discomfort, weight loss, and vaginal bleeding. A solid mass on her lower abdomen that had been palpable about 10 years prior had rapidly increased in size within the past few months. Physical examination revealed erythematous plaques on the right chest and flank without warmth. Punch biopsy of a lesion from the chest was sent for histopathological examination (Figure, B and C).A, Erythematous plaques involving the right chest and flank at the initial presentation. B and C, Large atypical cells with clear or eosinophilic cytoplasm forming papillary and glandular architectures are present in the deep dermis; lymphovascular invasion was observed in the superficial and deep dermis (hematoxylin-eosin). D, Contrast-enhanced computed tomographic scan of the abdomen and pelvis showing a large heterogeneous mass in the right rectus abdominis muscle (blue arrowhead) and cystic lesion in the left ovary (pink arrowhead). What Is Your Diagnosis?\n</question>\n\n<options>\nA. Cutaneous endometriosis\nB. Interstitial granulomatous dermatitis\nC. Wolf isotopic response\nD. Metastatic carcinoma\n</options>\n"
},
{
"role": "assistant",
"content": "D. Metastatic carcinoma\nResults of histopathological examination showed atypical cells with intracytoplasmic vacuoles forming a glandular architecture in the deep dermis, and lymphovascular invasion was observed (Figure, B and C). Immunohistochemical staining results were positive for CK7 and negative for CK20, estrogen receptors (ERs), GATA-binding protein 3, gross cystic disease fluid protein 15, Wilms tumor 1 (WT1), and thyroid transcription factor-1. Findings from chest and abdominopelvic computed tomography revealed a 13-cm heterogeneously enhancing mass in the right rectus abdominis muscle and a 3-cm ovarian cystic lesion (Figure, D). Positron emission tomography/computed tomography findings revealed intense abnormal 18F-fluorodeoxyglucose uptake in the abdominal wall, lung, liver, and lymph nodes. Laboratory examinations revealed increased concentrations of lactate dehydrogenase (558 U/L; reference, 135-214 U/L; to convert to μkat/L, multiply by 0.0167), cancer antigen 15-3 (143.8 U/mL; reference, <26.4 U/mL; to convert to kU/L, multiply by 1.0), and cancer antigen 125 (2528 U/mL; reference, <35 U/mL; to convert to kU/L, multiply by 1.0), and a normal carcinoembryonic antigen level (2.2 ng/mL; reference, <6 ng/mL; to convert to μg/L, multiply by 1.0). The patient underwent debulking surgery, and pathologic examination revealed poorly differentiated carcinoma positive for MOC31, napsin A, and PAX8, and negative for calretinin, WT1, CK5/6, ERs, gross cystic disease fluid protein 15, and p53. The patient was diagnosed with primary peritoneal clear cell carcinoma (PPCCC) with multiple distant metastases. She underwent chemotherapy with paclitaxel and carboplatin, but the disease progressed continuously. Another metastatic lesion developed in her abdomen. Despite treatment with topotecan and cisplatin, she died 6 months after the initial diagnosis.Primary peritoneal carcinoma (PPC) is a rare malignant epithelial tumor, and PPCCC is an extremely rare subtype of PPC, with only 15 cases, to our knowledge, having been reported since 1990.1 Because of its rarity, the clinical characteristics of PPCCC are not well understood. In the previous reports, all patients with PPCCC were female, and the average age was 53.7 years. The initial symptoms included abdominal pain, distension, and an abdominopelvic solid mass. Imaging studies commonly revealed large heterogeneous cystic and solid masses with a mean size of 13 cm.Histologically, PPCCC closely resembles primary peritoneal serous carcinoma and malignant mesothelioma. For diagnosis, extensive immunohistochemical staining is required. Primary peritoneal serous carcinoma expresses CK7, ERs, and WT1, but PPCCC is typically negative for WT1.1 Malignant mesothelioma is typically positive for CK5/6, calretinin, and WT1, and negative for MOC31, but PPCCC shows the opposite features.1Interstitial granulomatous dermatitis usually manifests as indurated erythematous to violaceous plaques symmetrically distributed on the lateral trunk and proximal extremities.2 Histologically, interstitial and perivascular histiocytic infiltrates with small foci of collagen degeneration are observed in the reticular dermis.3 Interstitial granulomatous dermatitis is often associated with rheumatic diseases, hematologic disorders, and internal cancers, but pathogenesis of interstitial granulomatous dermatitis is currently not well understood.3 Wolf isotopic response is a rare cutaneous reaction in which a new and unrelated dermatosis occurs at the site of a previously healed dermatosis, most commonly in areas of post–varicella-zoster virus scarring.4 Histologically, granulomatous and lichenoid reactions were frequently reported.5 Cutaneous endometriosis usually manifests as reddish-brown nodules on the umbilicus or a firm mass on the scar site. Histopathological examination shows the columnar epithelium surrounded by stroma, which consists of capillary vessels, fibroblasts, and hemosiderin-laden macrophages.6To our knowledge, cutaneous metastasis of PPCCC has not yet been reported. Primary peritoneal carcinoma most commonly metastasizes within the peritoneal cavity; metastases to the skin, liver, brain, lung, and breast are rarely reported.7 Because PPC behaves similarly to ovarian carcinoma,7,8 PPC may also manifest with lesions similar to those associated with ovarian carcinomas, such as inflammatory metastases, cicatricial plaques, or cellulitislike or lymphangitislike lesions,9 and similar features can be expected in PPCCC.Patients with PPCCC are commonly treated with debulking surgery followed by adjuvant chemotherapy with paclitaxel and carboplatin. Primary peritoneal clear cell carcinoma is considered to have a poor prognosis because the majority of patients die of the disease within 6 months or experience recurrence within 3 years.10 Because of the poor prognosis, prompt diagnosis and optimal treatment are required."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA man aged 44 years was referred for progressive parkinsonism with poor levodopa response. His medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, he had bilateral cataract surgery, and over the last 2 years, he developed worsening stiffness and walking difficulties with frequent falls. He reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. He was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on his Unified Parkinson Disease Rating Scale scores. Therefore, his dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. His neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the patient’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane.\n</clinical_case>\n\n<question>\nA man aged 44 years was referred for progressive parkinsonism with poor levodopa response. His medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, he had bilateral cataract surgery, and over the last 2 years, he developed worsening stiffness and walking difficulties with frequent falls. He reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. He was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on his Unified Parkinson Disease Rating Scale scores. Therefore, his dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. His neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the patient’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes\nB. Autosomal recessive parkinsonism\nC. Paraneoplastic syndrome\nD. Progressive supranuclear palsy\n</options>\n"
},
{
"role": "assistant",
"content": "B. Autosomal recessive parkinsonism\nIn patients with relative subacute onset of cognitive decline and movement disorders, treatable causes must be ruled out. In this patient, central nervous system infection was unlikely owing to normal laboratory and cerebral spinal fluid testing. Paraneoplastic antibody screening was negative, with no malignancies on total-body PET. Newer antibodies against the glycine receptor (GlyR) and immunoglobulinlike cell adhesion molecule 5 (IgLON5) have been discovered that mimic atypical parkinsonian syndromes. Anti-GlyR antibodies are typically associated with stiff-person syndromes or progressive encephalomyelitis with rigidity and myoclonus. Patients with IgLON5 antibodies develop a sleep disorder with parasomnia and/or breathing difficulty with bulbar symptoms, gait abnormalities, oculomotor problems, chorea, and cognitive decline.Although untreatable, the patient’s symptoms, disease course, and abnormal electroencephalogram could indicate Creutzfeldt-Jakob disease, but one would expect MRI changes and 14-3-3 protein. Symmetrical parkinsonism, poor levodopa response, early falls, rapid cognitive decline, and brain hypometabolism may raise the suspicion of a tauopathy, eg, progressive supranuclear palsy or corticobasal degeneration. However, preserved vertical gaze, presence of rapid eye movement–sleep behavior disorder (RBD), and very early onset of symptoms are atypical, and tauopathies were ruled out after brain biopsy. The history of cataracts, hearing loss, osteoarthritis, and hyperlipidemia, made us consider mitochondrial diseases, but screening (eg, mitochondrial DNA testing) was negative.Typical nonmotor features (RBD, restless legs syndrome, visual daytime hallucinations) are a strong indicator for an α-synucleinopathy. This was confirmed by the histopathological finding of Lewy bodies (Figure 2). In patients with early-onset parkinsonism (<50 years), genetic variants should be considered, even with a negative family history. Genetic screening in this patient revealed a novel homozygous variant (c.189dupA [p. Glu64Argfs*5]) within the DJ-1 protein of the PARK7 gene, confirming autosomal-recessive parkinsonism.Immunohistochemistry with silver staining demonstrated scattered globular inclusions and neurites consistent with Lewy bodies and Lewy neuritis (original magnification ×400).PARK7 is one of the rare causative genes for early-onset Parkinson disease (frequency of 1%-2%).1 The DJ-1 protein is expressed in almost all cells (eg, neurons and glial cells) and protects against oxidative stress by various mechanisms.2 In vitro studies have shown that DJ-1 functions as a chaperone protein, modulating α-synuclein oligomerization and cytotoxicity. Absence of DJ-1 in PARK7 gene variants causes a dysregulation in the brain, resulting in misfolding and aggregation.3 The increased prevalence of mitochondrial features in patients with Lewy body pathology highlights the role of PARK7 gene variants in mitochondrial homeostasis.4 Although the exact mechanism is still unclear, in vivo studies have shown that DJ-1 specifically acts on mitochondrial complex I, resulting in oxidative stress resistance.5Typically, patients with PARK7 gene variants have phenotypes similar to idiopathic Parkinson disease, although more complex syndromes with features of anterior horn cell disorders have been described. A recent literature review suggests that a triad of early-onset Parkinson disease, cataracts, and sensorineural hearing loss may be specific for DJ-1/PARK7; however, the phenotypic spectrum is still expanding.6This patient’s motor and cognitive decline have gradually progressed, and he required a wheelchair at age 46 years (<5 years after symptom onset). In this period, he was again given levodopa/benserazide (maximum 200 mg/50 mg given 3 times daily) and a dopamine agonist (rotigotine patch, maximum 6 mg/24 hours); both were not beneficial and were discontinued. At 48 years of age, he was diagnosed with Parkinson disease dementia and is currently being treated with rivastigmine."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA White man aged 44 years was referred for progressive parkinsonism with poor levodopa response. His medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, he had bilateral cataract surgery, and over the last 2 years, he developed worsening stiffness and walking difficulties with frequent falls. He reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. He was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on his Unified Parkinson Disease Rating Scale scores. Therefore, his dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. His neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the White patient’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane.\n</clinical_case>\n\n<question>\nA man aged 44 years was referred for progressive parkinsonism with poor levodopa response. His medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, he had bilateral cataract surgery, and over the last 2 years, he developed worsening stiffness and walking difficulties with frequent falls. He reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. He was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on his Unified Parkinson Disease Rating Scale scores. Therefore, his dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. His neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the patient’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes\nB. Autosomal recessive parkinsonism\nC. Paraneoplastic syndrome\nD. Progressive supranuclear palsy\n</options>\n"
},
{
"role": "assistant",
"content": "B. Autosomal recessive parkinsonism\nIn patients with relative subacute onset of cognitive decline and movement disorders, treatable causes must be ruled out. In this patient, central nervous system infection was unlikely owing to normal laboratory and cerebral spinal fluid testing. Paraneoplastic antibody screening was negative, with no malignancies on total-body PET. Newer antibodies against the glycine receptor (GlyR) and immunoglobulinlike cell adhesion molecule 5 (IgLON5) have been discovered that mimic atypical parkinsonian syndromes. Anti-GlyR antibodies are typically associated with stiff-person syndromes or progressive encephalomyelitis with rigidity and myoclonus. Patients with IgLON5 antibodies develop a sleep disorder with parasomnia and/or breathing difficulty with bulbar symptoms, gait abnormalities, oculomotor problems, chorea, and cognitive decline.Although untreatable, the patient’s symptoms, disease course, and abnormal electroencephalogram could indicate Creutzfeldt-Jakob disease, but one would expect MRI changes and 14-3-3 protein. Symmetrical parkinsonism, poor levodopa response, early falls, rapid cognitive decline, and brain hypometabolism may raise the suspicion of a tauopathy, eg, progressive supranuclear palsy or corticobasal degeneration. However, preserved vertical gaze, presence of rapid eye movement–sleep behavior disorder (RBD), and very early onset of symptoms are atypical, and tauopathies were ruled out after brain biopsy. The history of cataracts, hearing loss, osteoarthritis, and hyperlipidemia, made us consider mitochondrial diseases, but screening (eg, mitochondrial DNA testing) was negative.Typical nonmotor features (RBD, restless legs syndrome, visual daytime hallucinations) are a strong indicator for an α-synucleinopathy. This was confirmed by the histopathological finding of Lewy bodies (Figure 2). In patients with early-onset parkinsonism (<50 years), genetic variants should be considered, even with a negative family history. Genetic screening in this patient revealed a novel homozygous variant (c.189dupA [p. Glu64Argfs*5]) within the DJ-1 protein of the PARK7 gene, confirming autosomal-recessive parkinsonism.Immunohistochemistry with silver staining demonstrated scattered globular inclusions and neurites consistent with Lewy bodies and Lewy neuritis (original magnification ×400).PARK7 is one of the rare causative genes for early-onset Parkinson disease (frequency of 1%-2%).1 The DJ-1 protein is expressed in almost all cells (eg, neurons and glial cells) and protects against oxidative stress by various mechanisms.2 In vitro studies have shown that DJ-1 functions as a chaperone protein, modulating α-synuclein oligomerization and cytotoxicity. Absence of DJ-1 in PARK7 gene variants causes a dysregulation in the brain, resulting in misfolding and aggregation.3 The increased prevalence of mitochondrial features in patients with Lewy body pathology highlights the role of PARK7 gene variants in mitochondrial homeostasis.4 Although the exact mechanism is still unclear, in vivo studies have shown that DJ-1 specifically acts on mitochondrial complex I, resulting in oxidative stress resistance.5Typically, patients with PARK7 gene variants have phenotypes similar to idiopathic Parkinson disease, although more complex syndromes with features of anterior horn cell disorders have been described. A recent literature review suggests that a triad of early-onset Parkinson disease, cataracts, and sensorineural hearing loss may be specific for DJ-1/PARK7; however, the phenotypic spectrum is still expanding.6This patient’s motor and cognitive decline have gradually progressed, and he required a wheelchair at age 46 years (<5 years after symptom onset). In this period, he was again given levodopa/benserazide (maximum 200 mg/50 mg given 3 times daily) and a dopamine agonist (rotigotine patch, maximum 6 mg/24 hours); both were not beneficial and were discontinued. At 48 years of age, he was diagnosed with Parkinson disease dementia and is currently being treated with rivastigmine."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA White woman aged 44 years was referred for progressive parkinsonism with poor levodopa response. Her medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, she had bilateral cataract surgery, and over the last 2 years, she developed worsening stiffness and walking difficulties with frequent falls. She reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. She was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on her Unified Parkinson Disease Rating Scale scores. Therefore, her dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. Her neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the White woman’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane.\n</clinical_case>\n\n<question>\nA man aged 44 years was referred for progressive parkinsonism with poor levodopa response. His medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, he had bilateral cataract surgery, and over the last 2 years, he developed worsening stiffness and walking difficulties with frequent falls. He reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. He was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on his Unified Parkinson Disease Rating Scale scores. Therefore, his dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. His neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the patient’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes\nB. Autosomal recessive parkinsonism\nC. Paraneoplastic syndrome\nD. Progressive supranuclear palsy\n</options>\n"
},
{
"role": "assistant",
"content": "B. Autosomal recessive parkinsonism\nIn patients with relative subacute onset of cognitive decline and movement disorders, treatable causes must be ruled out. In this patient, central nervous system infection was unlikely owing to normal laboratory and cerebral spinal fluid testing. Paraneoplastic antibody screening was negative, with no malignancies on total-body PET. Newer antibodies against the glycine receptor (GlyR) and immunoglobulinlike cell adhesion molecule 5 (IgLON5) have been discovered that mimic atypical parkinsonian syndromes. Anti-GlyR antibodies are typically associated with stiff-person syndromes or progressive encephalomyelitis with rigidity and myoclonus. Patients with IgLON5 antibodies develop a sleep disorder with parasomnia and/or breathing difficulty with bulbar symptoms, gait abnormalities, oculomotor problems, chorea, and cognitive decline.Although untreatable, the patient’s symptoms, disease course, and abnormal electroencephalogram could indicate Creutzfeldt-Jakob disease, but one would expect MRI changes and 14-3-3 protein. Symmetrical parkinsonism, poor levodopa response, early falls, rapid cognitive decline, and brain hypometabolism may raise the suspicion of a tauopathy, eg, progressive supranuclear palsy or corticobasal degeneration. However, preserved vertical gaze, presence of rapid eye movement–sleep behavior disorder (RBD), and very early onset of symptoms are atypical, and tauopathies were ruled out after brain biopsy. The history of cataracts, hearing loss, osteoarthritis, and hyperlipidemia, made us consider mitochondrial diseases, but screening (eg, mitochondrial DNA testing) was negative.Typical nonmotor features (RBD, restless legs syndrome, visual daytime hallucinations) are a strong indicator for an α-synucleinopathy. This was confirmed by the histopathological finding of Lewy bodies (Figure 2). In patients with early-onset parkinsonism (<50 years), genetic variants should be considered, even with a negative family history. Genetic screening in this patient revealed a novel homozygous variant (c.189dupA [p. Glu64Argfs*5]) within the DJ-1 protein of the PARK7 gene, confirming autosomal-recessive parkinsonism.Immunohistochemistry with silver staining demonstrated scattered globular inclusions and neurites consistent with Lewy bodies and Lewy neuritis (original magnification ×400).PARK7 is one of the rare causative genes for early-onset Parkinson disease (frequency of 1%-2%).1 The DJ-1 protein is expressed in almost all cells (eg, neurons and glial cells) and protects against oxidative stress by various mechanisms.2 In vitro studies have shown that DJ-1 functions as a chaperone protein, modulating α-synuclein oligomerization and cytotoxicity. Absence of DJ-1 in PARK7 gene variants causes a dysregulation in the brain, resulting in misfolding and aggregation.3 The increased prevalence of mitochondrial features in patients with Lewy body pathology highlights the role of PARK7 gene variants in mitochondrial homeostasis.4 Although the exact mechanism is still unclear, in vivo studies have shown that DJ-1 specifically acts on mitochondrial complex I, resulting in oxidative stress resistance.5Typically, patients with PARK7 gene variants have phenotypes similar to idiopathic Parkinson disease, although more complex syndromes with features of anterior horn cell disorders have been described. A recent literature review suggests that a triad of early-onset Parkinson disease, cataracts, and sensorineural hearing loss may be specific for DJ-1/PARK7; however, the phenotypic spectrum is still expanding.6This patient’s motor and cognitive decline have gradually progressed, and he required a wheelchair at age 46 years (<5 years after symptom onset). In this period, he was again given levodopa/benserazide (maximum 200 mg/50 mg given 3 times daily) and a dopamine agonist (rotigotine patch, maximum 6 mg/24 hours); both were not beneficial and were discontinued. At 48 years of age, he was diagnosed with Parkinson disease dementia and is currently being treated with rivastigmine."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA White patient aged 44 years was referred for progressive parkinsonism with poor levodopa response. Their medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, they had bilateral cataract surgery, and over the last 2 years, they developed worsening stiffness and walking difficulties with frequent falls. They reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. They was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on their Unified Parkinson Disease Rating Scale scores. Therefore, their dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. Their neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the White patient’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane.\n</clinical_case>\n\n<question>\nA man aged 44 years was referred for progressive parkinsonism with poor levodopa response. His medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, he had bilateral cataract surgery, and over the last 2 years, he developed worsening stiffness and walking difficulties with frequent falls. He reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. He was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on his Unified Parkinson Disease Rating Scale scores. Therefore, his dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. His neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the patient’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes\nB. Autosomal recessive parkinsonism\nC. Paraneoplastic syndrome\nD. Progressive supranuclear palsy\n</options>\n"
},
{
"role": "assistant",
"content": "B. Autosomal recessive parkinsonism\nIn patients with relative subacute onset of cognitive decline and movement disorders, treatable causes must be ruled out. In this patient, central nervous system infection was unlikely owing to normal laboratory and cerebral spinal fluid testing. Paraneoplastic antibody screening was negative, with no malignancies on total-body PET. Newer antibodies against the glycine receptor (GlyR) and immunoglobulinlike cell adhesion molecule 5 (IgLON5) have been discovered that mimic atypical parkinsonian syndromes. Anti-GlyR antibodies are typically associated with stiff-person syndromes or progressive encephalomyelitis with rigidity and myoclonus. Patients with IgLON5 antibodies develop a sleep disorder with parasomnia and/or breathing difficulty with bulbar symptoms, gait abnormalities, oculomotor problems, chorea, and cognitive decline.Although untreatable, the patient’s symptoms, disease course, and abnormal electroencephalogram could indicate Creutzfeldt-Jakob disease, but one would expect MRI changes and 14-3-3 protein. Symmetrical parkinsonism, poor levodopa response, early falls, rapid cognitive decline, and brain hypometabolism may raise the suspicion of a tauopathy, eg, progressive supranuclear palsy or corticobasal degeneration. However, preserved vertical gaze, presence of rapid eye movement–sleep behavior disorder (RBD), and very early onset of symptoms are atypical, and tauopathies were ruled out after brain biopsy. The history of cataracts, hearing loss, osteoarthritis, and hyperlipidemia, made us consider mitochondrial diseases, but screening (eg, mitochondrial DNA testing) was negative.Typical nonmotor features (RBD, restless legs syndrome, visual daytime hallucinations) are a strong indicator for an α-synucleinopathy. This was confirmed by the histopathological finding of Lewy bodies (Figure 2). In patients with early-onset parkinsonism (<50 years), genetic variants should be considered, even with a negative family history. Genetic screening in this patient revealed a novel homozygous variant (c.189dupA [p. Glu64Argfs*5]) within the DJ-1 protein of the PARK7 gene, confirming autosomal-recessive parkinsonism.Immunohistochemistry with silver staining demonstrated scattered globular inclusions and neurites consistent with Lewy bodies and Lewy neuritis (original magnification ×400).PARK7 is one of the rare causative genes for early-onset Parkinson disease (frequency of 1%-2%).1 The DJ-1 protein is expressed in almost all cells (eg, neurons and glial cells) and protects against oxidative stress by various mechanisms.2 In vitro studies have shown that DJ-1 functions as a chaperone protein, modulating α-synuclein oligomerization and cytotoxicity. Absence of DJ-1 in PARK7 gene variants causes a dysregulation in the brain, resulting in misfolding and aggregation.3 The increased prevalence of mitochondrial features in patients with Lewy body pathology highlights the role of PARK7 gene variants in mitochondrial homeostasis.4 Although the exact mechanism is still unclear, in vivo studies have shown that DJ-1 specifically acts on mitochondrial complex I, resulting in oxidative stress resistance.5Typically, patients with PARK7 gene variants have phenotypes similar to idiopathic Parkinson disease, although more complex syndromes with features of anterior horn cell disorders have been described. A recent literature review suggests that a triad of early-onset Parkinson disease, cataracts, and sensorineural hearing loss may be specific for DJ-1/PARK7; however, the phenotypic spectrum is still expanding.6This patient’s motor and cognitive decline have gradually progressed, and he required a wheelchair at age 46 years (<5 years after symptom onset). In this period, he was again given levodopa/benserazide (maximum 200 mg/50 mg given 3 times daily) and a dopamine agonist (rotigotine patch, maximum 6 mg/24 hours); both were not beneficial and were discontinued. At 48 years of age, he was diagnosed with Parkinson disease dementia and is currently being treated with rivastigmine."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA Black man aged 44 years was referred for progressive parkinsonism with poor levodopa response. His medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, he had bilateral cataract surgery, and over the last 2 years, he developed worsening stiffness and walking difficulties with frequent falls. He reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. He was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on his Unified Parkinson Disease Rating Scale scores. Therefore, his dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. His neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the Black patient’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane.\n</clinical_case>\n\n<question>\nA man aged 44 years was referred for progressive parkinsonism with poor levodopa response. His medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, he had bilateral cataract surgery, and over the last 2 years, he developed worsening stiffness and walking difficulties with frequent falls. He reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. He was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on his Unified Parkinson Disease Rating Scale scores. Therefore, his dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. His neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the patient’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes\nB. Autosomal recessive parkinsonism\nC. Paraneoplastic syndrome\nD. Progressive supranuclear palsy\n</options>\n"
},
{
"role": "assistant",
"content": "B. Autosomal recessive parkinsonism\nIn patients with relative subacute onset of cognitive decline and movement disorders, treatable causes must be ruled out. In this patient, central nervous system infection was unlikely owing to normal laboratory and cerebral spinal fluid testing. Paraneoplastic antibody screening was negative, with no malignancies on total-body PET. Newer antibodies against the glycine receptor (GlyR) and immunoglobulinlike cell adhesion molecule 5 (IgLON5) have been discovered that mimic atypical parkinsonian syndromes. Anti-GlyR antibodies are typically associated with stiff-person syndromes or progressive encephalomyelitis with rigidity and myoclonus. Patients with IgLON5 antibodies develop a sleep disorder with parasomnia and/or breathing difficulty with bulbar symptoms, gait abnormalities, oculomotor problems, chorea, and cognitive decline.Although untreatable, the patient’s symptoms, disease course, and abnormal electroencephalogram could indicate Creutzfeldt-Jakob disease, but one would expect MRI changes and 14-3-3 protein. Symmetrical parkinsonism, poor levodopa response, early falls, rapid cognitive decline, and brain hypometabolism may raise the suspicion of a tauopathy, eg, progressive supranuclear palsy or corticobasal degeneration. However, preserved vertical gaze, presence of rapid eye movement–sleep behavior disorder (RBD), and very early onset of symptoms are atypical, and tauopathies were ruled out after brain biopsy. The history of cataracts, hearing loss, osteoarthritis, and hyperlipidemia, made us consider mitochondrial diseases, but screening (eg, mitochondrial DNA testing) was negative.Typical nonmotor features (RBD, restless legs syndrome, visual daytime hallucinations) are a strong indicator for an α-synucleinopathy. This was confirmed by the histopathological finding of Lewy bodies (Figure 2). In patients with early-onset parkinsonism (<50 years), genetic variants should be considered, even with a negative family history. Genetic screening in this patient revealed a novel homozygous variant (c.189dupA [p. Glu64Argfs*5]) within the DJ-1 protein of the PARK7 gene, confirming autosomal-recessive parkinsonism.Immunohistochemistry with silver staining demonstrated scattered globular inclusions and neurites consistent with Lewy bodies and Lewy neuritis (original magnification ×400).PARK7 is one of the rare causative genes for early-onset Parkinson disease (frequency of 1%-2%).1 The DJ-1 protein is expressed in almost all cells (eg, neurons and glial cells) and protects against oxidative stress by various mechanisms.2 In vitro studies have shown that DJ-1 functions as a chaperone protein, modulating α-synuclein oligomerization and cytotoxicity. Absence of DJ-1 in PARK7 gene variants causes a dysregulation in the brain, resulting in misfolding and aggregation.3 The increased prevalence of mitochondrial features in patients with Lewy body pathology highlights the role of PARK7 gene variants in mitochondrial homeostasis.4 Although the exact mechanism is still unclear, in vivo studies have shown that DJ-1 specifically acts on mitochondrial complex I, resulting in oxidative stress resistance.5Typically, patients with PARK7 gene variants have phenotypes similar to idiopathic Parkinson disease, although more complex syndromes with features of anterior horn cell disorders have been described. A recent literature review suggests that a triad of early-onset Parkinson disease, cataracts, and sensorineural hearing loss may be specific for DJ-1/PARK7; however, the phenotypic spectrum is still expanding.6This patient’s motor and cognitive decline have gradually progressed, and he required a wheelchair at age 46 years (<5 years after symptom onset). In this period, he was again given levodopa/benserazide (maximum 200 mg/50 mg given 3 times daily) and a dopamine agonist (rotigotine patch, maximum 6 mg/24 hours); both were not beneficial and were discontinued. At 48 years of age, he was diagnosed with Parkinson disease dementia and is currently being treated with rivastigmine."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA Black woman aged 44 years was referred for progressive parkinsonism with poor levodopa response. Her medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, she had bilateral cataract surgery, and over the last 2 years, she developed worsening stiffness and walking difficulties with frequent falls. She reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. She was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on her Unified Parkinson Disease Rating Scale scores. Therefore, her dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. Her neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the Black woman’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane.\n</clinical_case>\n\n<question>\nA man aged 44 years was referred for progressive parkinsonism with poor levodopa response. His medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, he had bilateral cataract surgery, and over the last 2 years, he developed worsening stiffness and walking difficulties with frequent falls. He reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. He was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on his Unified Parkinson Disease Rating Scale scores. Therefore, his dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. His neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the patient’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes\nB. Autosomal recessive parkinsonism\nC. Paraneoplastic syndrome\nD. Progressive supranuclear palsy\n</options>\n"
},
{
"role": "assistant",
"content": "B. Autosomal recessive parkinsonism\nIn patients with relative subacute onset of cognitive decline and movement disorders, treatable causes must be ruled out. In this patient, central nervous system infection was unlikely owing to normal laboratory and cerebral spinal fluid testing. Paraneoplastic antibody screening was negative, with no malignancies on total-body PET. Newer antibodies against the glycine receptor (GlyR) and immunoglobulinlike cell adhesion molecule 5 (IgLON5) have been discovered that mimic atypical parkinsonian syndromes. Anti-GlyR antibodies are typically associated with stiff-person syndromes or progressive encephalomyelitis with rigidity and myoclonus. Patients with IgLON5 antibodies develop a sleep disorder with parasomnia and/or breathing difficulty with bulbar symptoms, gait abnormalities, oculomotor problems, chorea, and cognitive decline.Although untreatable, the patient’s symptoms, disease course, and abnormal electroencephalogram could indicate Creutzfeldt-Jakob disease, but one would expect MRI changes and 14-3-3 protein. Symmetrical parkinsonism, poor levodopa response, early falls, rapid cognitive decline, and brain hypometabolism may raise the suspicion of a tauopathy, eg, progressive supranuclear palsy or corticobasal degeneration. However, preserved vertical gaze, presence of rapid eye movement–sleep behavior disorder (RBD), and very early onset of symptoms are atypical, and tauopathies were ruled out after brain biopsy. The history of cataracts, hearing loss, osteoarthritis, and hyperlipidemia, made us consider mitochondrial diseases, but screening (eg, mitochondrial DNA testing) was negative.Typical nonmotor features (RBD, restless legs syndrome, visual daytime hallucinations) are a strong indicator for an α-synucleinopathy. This was confirmed by the histopathological finding of Lewy bodies (Figure 2). In patients with early-onset parkinsonism (<50 years), genetic variants should be considered, even with a negative family history. Genetic screening in this patient revealed a novel homozygous variant (c.189dupA [p. Glu64Argfs*5]) within the DJ-1 protein of the PARK7 gene, confirming autosomal-recessive parkinsonism.Immunohistochemistry with silver staining demonstrated scattered globular inclusions and neurites consistent with Lewy bodies and Lewy neuritis (original magnification ×400).PARK7 is one of the rare causative genes for early-onset Parkinson disease (frequency of 1%-2%).1 The DJ-1 protein is expressed in almost all cells (eg, neurons and glial cells) and protects against oxidative stress by various mechanisms.2 In vitro studies have shown that DJ-1 functions as a chaperone protein, modulating α-synuclein oligomerization and cytotoxicity. Absence of DJ-1 in PARK7 gene variants causes a dysregulation in the brain, resulting in misfolding and aggregation.3 The increased prevalence of mitochondrial features in patients with Lewy body pathology highlights the role of PARK7 gene variants in mitochondrial homeostasis.4 Although the exact mechanism is still unclear, in vivo studies have shown that DJ-1 specifically acts on mitochondrial complex I, resulting in oxidative stress resistance.5Typically, patients with PARK7 gene variants have phenotypes similar to idiopathic Parkinson disease, although more complex syndromes with features of anterior horn cell disorders have been described. A recent literature review suggests that a triad of early-onset Parkinson disease, cataracts, and sensorineural hearing loss may be specific for DJ-1/PARK7; however, the phenotypic spectrum is still expanding.6This patient’s motor and cognitive decline have gradually progressed, and he required a wheelchair at age 46 years (<5 years after symptom onset). In this period, he was again given levodopa/benserazide (maximum 200 mg/50 mg given 3 times daily) and a dopamine agonist (rotigotine patch, maximum 6 mg/24 hours); both were not beneficial and were discontinued. At 48 years of age, he was diagnosed with Parkinson disease dementia and is currently being treated with rivastigmine."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA Black patient aged 44 years was referred for progressive parkinsonism with poor levodopa response. Their medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, they had bilateral cataract surgery, and over the last 2 years, they developed worsening stiffness and walking difficulties with frequent falls. They reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. They was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on their Unified Parkinson Disease Rating Scale scores. Therefore, their dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. Their neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the Black patient’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane.\n</clinical_case>\n\n<question>\nA man aged 44 years was referred for progressive parkinsonism with poor levodopa response. His medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, he had bilateral cataract surgery, and over the last 2 years, he developed worsening stiffness and walking difficulties with frequent falls. He reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. He was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on his Unified Parkinson Disease Rating Scale scores. Therefore, his dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. His neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the patient’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes\nB. Autosomal recessive parkinsonism\nC. Paraneoplastic syndrome\nD. Progressive supranuclear palsy\n</options>\n"
},
{
"role": "assistant",
"content": "B. Autosomal recessive parkinsonism\nIn patients with relative subacute onset of cognitive decline and movement disorders, treatable causes must be ruled out. In this patient, central nervous system infection was unlikely owing to normal laboratory and cerebral spinal fluid testing. Paraneoplastic antibody screening was negative, with no malignancies on total-body PET. Newer antibodies against the glycine receptor (GlyR) and immunoglobulinlike cell adhesion molecule 5 (IgLON5) have been discovered that mimic atypical parkinsonian syndromes. Anti-GlyR antibodies are typically associated with stiff-person syndromes or progressive encephalomyelitis with rigidity and myoclonus. Patients with IgLON5 antibodies develop a sleep disorder with parasomnia and/or breathing difficulty with bulbar symptoms, gait abnormalities, oculomotor problems, chorea, and cognitive decline.Although untreatable, the patient’s symptoms, disease course, and abnormal electroencephalogram could indicate Creutzfeldt-Jakob disease, but one would expect MRI changes and 14-3-3 protein. Symmetrical parkinsonism, poor levodopa response, early falls, rapid cognitive decline, and brain hypometabolism may raise the suspicion of a tauopathy, eg, progressive supranuclear palsy or corticobasal degeneration. However, preserved vertical gaze, presence of rapid eye movement–sleep behavior disorder (RBD), and very early onset of symptoms are atypical, and tauopathies were ruled out after brain biopsy. The history of cataracts, hearing loss, osteoarthritis, and hyperlipidemia, made us consider mitochondrial diseases, but screening (eg, mitochondrial DNA testing) was negative.Typical nonmotor features (RBD, restless legs syndrome, visual daytime hallucinations) are a strong indicator for an α-synucleinopathy. This was confirmed by the histopathological finding of Lewy bodies (Figure 2). In patients with early-onset parkinsonism (<50 years), genetic variants should be considered, even with a negative family history. Genetic screening in this patient revealed a novel homozygous variant (c.189dupA [p. Glu64Argfs*5]) within the DJ-1 protein of the PARK7 gene, confirming autosomal-recessive parkinsonism.Immunohistochemistry with silver staining demonstrated scattered globular inclusions and neurites consistent with Lewy bodies and Lewy neuritis (original magnification ×400).PARK7 is one of the rare causative genes for early-onset Parkinson disease (frequency of 1%-2%).1 The DJ-1 protein is expressed in almost all cells (eg, neurons and glial cells) and protects against oxidative stress by various mechanisms.2 In vitro studies have shown that DJ-1 functions as a chaperone protein, modulating α-synuclein oligomerization and cytotoxicity. Absence of DJ-1 in PARK7 gene variants causes a dysregulation in the brain, resulting in misfolding and aggregation.3 The increased prevalence of mitochondrial features in patients with Lewy body pathology highlights the role of PARK7 gene variants in mitochondrial homeostasis.4 Although the exact mechanism is still unclear, in vivo studies have shown that DJ-1 specifically acts on mitochondrial complex I, resulting in oxidative stress resistance.5Typically, patients with PARK7 gene variants have phenotypes similar to idiopathic Parkinson disease, although more complex syndromes with features of anterior horn cell disorders have been described. A recent literature review suggests that a triad of early-onset Parkinson disease, cataracts, and sensorineural hearing loss may be specific for DJ-1/PARK7; however, the phenotypic spectrum is still expanding.6This patient’s motor and cognitive decline have gradually progressed, and he required a wheelchair at age 46 years (<5 years after symptom onset). In this period, he was again given levodopa/benserazide (maximum 200 mg/50 mg given 3 times daily) and a dopamine agonist (rotigotine patch, maximum 6 mg/24 hours); both were not beneficial and were discontinued. At 48 years of age, he was diagnosed with Parkinson disease dementia and is currently being treated with rivastigmine."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA Asian man aged 44 years was referred for progressive parkinsonism with poor levodopa response. His medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, he had bilateral cataract surgery, and over the last 2 years, he developed worsening stiffness and walking difficulties with frequent falls. He reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. He was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on his Unified Parkinson Disease Rating Scale scores. Therefore, his dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. His neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the Asian patient’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane.\n</clinical_case>\n\n<question>\nA man aged 44 years was referred for progressive parkinsonism with poor levodopa response. His medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, he had bilateral cataract surgery, and over the last 2 years, he developed worsening stiffness and walking difficulties with frequent falls. He reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. He was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on his Unified Parkinson Disease Rating Scale scores. Therefore, his dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. His neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the patient’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes\nB. Autosomal recessive parkinsonism\nC. Paraneoplastic syndrome\nD. Progressive supranuclear palsy\n</options>\n"
},
{
"role": "assistant",
"content": "B. Autosomal recessive parkinsonism\nIn patients with relative subacute onset of cognitive decline and movement disorders, treatable causes must be ruled out. In this patient, central nervous system infection was unlikely owing to normal laboratory and cerebral spinal fluid testing. Paraneoplastic antibody screening was negative, with no malignancies on total-body PET. Newer antibodies against the glycine receptor (GlyR) and immunoglobulinlike cell adhesion molecule 5 (IgLON5) have been discovered that mimic atypical parkinsonian syndromes. Anti-GlyR antibodies are typically associated with stiff-person syndromes or progressive encephalomyelitis with rigidity and myoclonus. Patients with IgLON5 antibodies develop a sleep disorder with parasomnia and/or breathing difficulty with bulbar symptoms, gait abnormalities, oculomotor problems, chorea, and cognitive decline.Although untreatable, the patient’s symptoms, disease course, and abnormal electroencephalogram could indicate Creutzfeldt-Jakob disease, but one would expect MRI changes and 14-3-3 protein. Symmetrical parkinsonism, poor levodopa response, early falls, rapid cognitive decline, and brain hypometabolism may raise the suspicion of a tauopathy, eg, progressive supranuclear palsy or corticobasal degeneration. However, preserved vertical gaze, presence of rapid eye movement–sleep behavior disorder (RBD), and very early onset of symptoms are atypical, and tauopathies were ruled out after brain biopsy. The history of cataracts, hearing loss, osteoarthritis, and hyperlipidemia, made us consider mitochondrial diseases, but screening (eg, mitochondrial DNA testing) was negative.Typical nonmotor features (RBD, restless legs syndrome, visual daytime hallucinations) are a strong indicator for an α-synucleinopathy. This was confirmed by the histopathological finding of Lewy bodies (Figure 2). In patients with early-onset parkinsonism (<50 years), genetic variants should be considered, even with a negative family history. Genetic screening in this patient revealed a novel homozygous variant (c.189dupA [p. Glu64Argfs*5]) within the DJ-1 protein of the PARK7 gene, confirming autosomal-recessive parkinsonism.Immunohistochemistry with silver staining demonstrated scattered globular inclusions and neurites consistent with Lewy bodies and Lewy neuritis (original magnification ×400).PARK7 is one of the rare causative genes for early-onset Parkinson disease (frequency of 1%-2%).1 The DJ-1 protein is expressed in almost all cells (eg, neurons and glial cells) and protects against oxidative stress by various mechanisms.2 In vitro studies have shown that DJ-1 functions as a chaperone protein, modulating α-synuclein oligomerization and cytotoxicity. Absence of DJ-1 in PARK7 gene variants causes a dysregulation in the brain, resulting in misfolding and aggregation.3 The increased prevalence of mitochondrial features in patients with Lewy body pathology highlights the role of PARK7 gene variants in mitochondrial homeostasis.4 Although the exact mechanism is still unclear, in vivo studies have shown that DJ-1 specifically acts on mitochondrial complex I, resulting in oxidative stress resistance.5Typically, patients with PARK7 gene variants have phenotypes similar to idiopathic Parkinson disease, although more complex syndromes with features of anterior horn cell disorders have been described. A recent literature review suggests that a triad of early-onset Parkinson disease, cataracts, and sensorineural hearing loss may be specific for DJ-1/PARK7; however, the phenotypic spectrum is still expanding.6This patient’s motor and cognitive decline have gradually progressed, and he required a wheelchair at age 46 years (<5 years after symptom onset). In this period, he was again given levodopa/benserazide (maximum 200 mg/50 mg given 3 times daily) and a dopamine agonist (rotigotine patch, maximum 6 mg/24 hours); both were not beneficial and were discontinued. At 48 years of age, he was diagnosed with Parkinson disease dementia and is currently being treated with rivastigmine."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA Asian woman aged 44 years was referred for progressive parkinsonism with poor levodopa response. Her medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, she had bilateral cataract surgery, and over the last 2 years, she developed worsening stiffness and walking difficulties with frequent falls. She reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. She was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on her Unified Parkinson Disease Rating Scale scores. Therefore, her dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. Her neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the Asian woman’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane.\n</clinical_case>\n\n<question>\nA man aged 44 years was referred for progressive parkinsonism with poor levodopa response. His medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, he had bilateral cataract surgery, and over the last 2 years, he developed worsening stiffness and walking difficulties with frequent falls. He reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. He was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on his Unified Parkinson Disease Rating Scale scores. Therefore, his dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. His neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the patient’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes\nB. Autosomal recessive parkinsonism\nC. Paraneoplastic syndrome\nD. Progressive supranuclear palsy\n</options>\n"
},
{
"role": "assistant",
"content": "B. Autosomal recessive parkinsonism\nIn patients with relative subacute onset of cognitive decline and movement disorders, treatable causes must be ruled out. In this patient, central nervous system infection was unlikely owing to normal laboratory and cerebral spinal fluid testing. Paraneoplastic antibody screening was negative, with no malignancies on total-body PET. Newer antibodies against the glycine receptor (GlyR) and immunoglobulinlike cell adhesion molecule 5 (IgLON5) have been discovered that mimic atypical parkinsonian syndromes. Anti-GlyR antibodies are typically associated with stiff-person syndromes or progressive encephalomyelitis with rigidity and myoclonus. Patients with IgLON5 antibodies develop a sleep disorder with parasomnia and/or breathing difficulty with bulbar symptoms, gait abnormalities, oculomotor problems, chorea, and cognitive decline.Although untreatable, the patient’s symptoms, disease course, and abnormal electroencephalogram could indicate Creutzfeldt-Jakob disease, but one would expect MRI changes and 14-3-3 protein. Symmetrical parkinsonism, poor levodopa response, early falls, rapid cognitive decline, and brain hypometabolism may raise the suspicion of a tauopathy, eg, progressive supranuclear palsy or corticobasal degeneration. However, preserved vertical gaze, presence of rapid eye movement–sleep behavior disorder (RBD), and very early onset of symptoms are atypical, and tauopathies were ruled out after brain biopsy. The history of cataracts, hearing loss, osteoarthritis, and hyperlipidemia, made us consider mitochondrial diseases, but screening (eg, mitochondrial DNA testing) was negative.Typical nonmotor features (RBD, restless legs syndrome, visual daytime hallucinations) are a strong indicator for an α-synucleinopathy. This was confirmed by the histopathological finding of Lewy bodies (Figure 2). In patients with early-onset parkinsonism (<50 years), genetic variants should be considered, even with a negative family history. Genetic screening in this patient revealed a novel homozygous variant (c.189dupA [p. Glu64Argfs*5]) within the DJ-1 protein of the PARK7 gene, confirming autosomal-recessive parkinsonism.Immunohistochemistry with silver staining demonstrated scattered globular inclusions and neurites consistent with Lewy bodies and Lewy neuritis (original magnification ×400).PARK7 is one of the rare causative genes for early-onset Parkinson disease (frequency of 1%-2%).1 The DJ-1 protein is expressed in almost all cells (eg, neurons and glial cells) and protects against oxidative stress by various mechanisms.2 In vitro studies have shown that DJ-1 functions as a chaperone protein, modulating α-synuclein oligomerization and cytotoxicity. Absence of DJ-1 in PARK7 gene variants causes a dysregulation in the brain, resulting in misfolding and aggregation.3 The increased prevalence of mitochondrial features in patients with Lewy body pathology highlights the role of PARK7 gene variants in mitochondrial homeostasis.4 Although the exact mechanism is still unclear, in vivo studies have shown that DJ-1 specifically acts on mitochondrial complex I, resulting in oxidative stress resistance.5Typically, patients with PARK7 gene variants have phenotypes similar to idiopathic Parkinson disease, although more complex syndromes with features of anterior horn cell disorders have been described. A recent literature review suggests that a triad of early-onset Parkinson disease, cataracts, and sensorineural hearing loss may be specific for DJ-1/PARK7; however, the phenotypic spectrum is still expanding.6This patient’s motor and cognitive decline have gradually progressed, and he required a wheelchair at age 46 years (<5 years after symptom onset). In this period, he was again given levodopa/benserazide (maximum 200 mg/50 mg given 3 times daily) and a dopamine agonist (rotigotine patch, maximum 6 mg/24 hours); both were not beneficial and were discontinued. At 48 years of age, he was diagnosed with Parkinson disease dementia and is currently being treated with rivastigmine."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA Asian patient aged 44 years was referred for progressive parkinsonism with poor levodopa response. Their medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, they had bilateral cataract surgery, and over the last 2 years, they developed worsening stiffness and walking difficulties with frequent falls. They reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. They was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on their Unified Parkinson Disease Rating Scale scores. Therefore, their dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. Their neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the Asian patient’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane.\n</clinical_case>\n\n<question>\nA man aged 44 years was referred for progressive parkinsonism with poor levodopa response. His medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, he had bilateral cataract surgery, and over the last 2 years, he developed worsening stiffness and walking difficulties with frequent falls. He reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. He was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on his Unified Parkinson Disease Rating Scale scores. Therefore, his dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. His neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the patient’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes\nB. Autosomal recessive parkinsonism\nC. Paraneoplastic syndrome\nD. Progressive supranuclear palsy\n</options>\n"
},
{
"role": "assistant",
"content": "B. Autosomal recessive parkinsonism\nIn patients with relative subacute onset of cognitive decline and movement disorders, treatable causes must be ruled out. In this patient, central nervous system infection was unlikely owing to normal laboratory and cerebral spinal fluid testing. Paraneoplastic antibody screening was negative, with no malignancies on total-body PET. Newer antibodies against the glycine receptor (GlyR) and immunoglobulinlike cell adhesion molecule 5 (IgLON5) have been discovered that mimic atypical parkinsonian syndromes. Anti-GlyR antibodies are typically associated with stiff-person syndromes or progressive encephalomyelitis with rigidity and myoclonus. Patients with IgLON5 antibodies develop a sleep disorder with parasomnia and/or breathing difficulty with bulbar symptoms, gait abnormalities, oculomotor problems, chorea, and cognitive decline.Although untreatable, the patient’s symptoms, disease course, and abnormal electroencephalogram could indicate Creutzfeldt-Jakob disease, but one would expect MRI changes and 14-3-3 protein. Symmetrical parkinsonism, poor levodopa response, early falls, rapid cognitive decline, and brain hypometabolism may raise the suspicion of a tauopathy, eg, progressive supranuclear palsy or corticobasal degeneration. However, preserved vertical gaze, presence of rapid eye movement–sleep behavior disorder (RBD), and very early onset of symptoms are atypical, and tauopathies were ruled out after brain biopsy. The history of cataracts, hearing loss, osteoarthritis, and hyperlipidemia, made us consider mitochondrial diseases, but screening (eg, mitochondrial DNA testing) was negative.Typical nonmotor features (RBD, restless legs syndrome, visual daytime hallucinations) are a strong indicator for an α-synucleinopathy. This was confirmed by the histopathological finding of Lewy bodies (Figure 2). In patients with early-onset parkinsonism (<50 years), genetic variants should be considered, even with a negative family history. Genetic screening in this patient revealed a novel homozygous variant (c.189dupA [p. Glu64Argfs*5]) within the DJ-1 protein of the PARK7 gene, confirming autosomal-recessive parkinsonism.Immunohistochemistry with silver staining demonstrated scattered globular inclusions and neurites consistent with Lewy bodies and Lewy neuritis (original magnification ×400).PARK7 is one of the rare causative genes for early-onset Parkinson disease (frequency of 1%-2%).1 The DJ-1 protein is expressed in almost all cells (eg, neurons and glial cells) and protects against oxidative stress by various mechanisms.2 In vitro studies have shown that DJ-1 functions as a chaperone protein, modulating α-synuclein oligomerization and cytotoxicity. Absence of DJ-1 in PARK7 gene variants causes a dysregulation in the brain, resulting in misfolding and aggregation.3 The increased prevalence of mitochondrial features in patients with Lewy body pathology highlights the role of PARK7 gene variants in mitochondrial homeostasis.4 Although the exact mechanism is still unclear, in vivo studies have shown that DJ-1 specifically acts on mitochondrial complex I, resulting in oxidative stress resistance.5Typically, patients with PARK7 gene variants have phenotypes similar to idiopathic Parkinson disease, although more complex syndromes with features of anterior horn cell disorders have been described. A recent literature review suggests that a triad of early-onset Parkinson disease, cataracts, and sensorineural hearing loss may be specific for DJ-1/PARK7; however, the phenotypic spectrum is still expanding.6This patient’s motor and cognitive decline have gradually progressed, and he required a wheelchair at age 46 years (<5 years after symptom onset). In this period, he was again given levodopa/benserazide (maximum 200 mg/50 mg given 3 times daily) and a dopamine agonist (rotigotine patch, maximum 6 mg/24 hours); both were not beneficial and were discontinued. At 48 years of age, he was diagnosed with Parkinson disease dementia and is currently being treated with rivastigmine."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA Hispanic man aged 44 years was referred for progressive parkinsonism with poor levodopa response. His medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, he had bilateral cataract surgery, and over the last 2 years, he developed worsening stiffness and walking difficulties with frequent falls. He reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. He was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on his Unified Parkinson Disease Rating Scale scores. Therefore, his dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. His neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the Hispanic patient’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane.\n</clinical_case>\n\n<question>\nA man aged 44 years was referred for progressive parkinsonism with poor levodopa response. His medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, he had bilateral cataract surgery, and over the last 2 years, he developed worsening stiffness and walking difficulties with frequent falls. He reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. He was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on his Unified Parkinson Disease Rating Scale scores. Therefore, his dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. His neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the patient’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes\nB. Autosomal recessive parkinsonism\nC. Paraneoplastic syndrome\nD. Progressive supranuclear palsy\n</options>\n"
},
{
"role": "assistant",
"content": "B. Autosomal recessive parkinsonism\nIn patients with relative subacute onset of cognitive decline and movement disorders, treatable causes must be ruled out. In this patient, central nervous system infection was unlikely owing to normal laboratory and cerebral spinal fluid testing. Paraneoplastic antibody screening was negative, with no malignancies on total-body PET. Newer antibodies against the glycine receptor (GlyR) and immunoglobulinlike cell adhesion molecule 5 (IgLON5) have been discovered that mimic atypical parkinsonian syndromes. Anti-GlyR antibodies are typically associated with stiff-person syndromes or progressive encephalomyelitis with rigidity and myoclonus. Patients with IgLON5 antibodies develop a sleep disorder with parasomnia and/or breathing difficulty with bulbar symptoms, gait abnormalities, oculomotor problems, chorea, and cognitive decline.Although untreatable, the patient’s symptoms, disease course, and abnormal electroencephalogram could indicate Creutzfeldt-Jakob disease, but one would expect MRI changes and 14-3-3 protein. Symmetrical parkinsonism, poor levodopa response, early falls, rapid cognitive decline, and brain hypometabolism may raise the suspicion of a tauopathy, eg, progressive supranuclear palsy or corticobasal degeneration. However, preserved vertical gaze, presence of rapid eye movement–sleep behavior disorder (RBD), and very early onset of symptoms are atypical, and tauopathies were ruled out after brain biopsy. The history of cataracts, hearing loss, osteoarthritis, and hyperlipidemia, made us consider mitochondrial diseases, but screening (eg, mitochondrial DNA testing) was negative.Typical nonmotor features (RBD, restless legs syndrome, visual daytime hallucinations) are a strong indicator for an α-synucleinopathy. This was confirmed by the histopathological finding of Lewy bodies (Figure 2). In patients with early-onset parkinsonism (<50 years), genetic variants should be considered, even with a negative family history. Genetic screening in this patient revealed a novel homozygous variant (c.189dupA [p. Glu64Argfs*5]) within the DJ-1 protein of the PARK7 gene, confirming autosomal-recessive parkinsonism.Immunohistochemistry with silver staining demonstrated scattered globular inclusions and neurites consistent with Lewy bodies and Lewy neuritis (original magnification ×400).PARK7 is one of the rare causative genes for early-onset Parkinson disease (frequency of 1%-2%).1 The DJ-1 protein is expressed in almost all cells (eg, neurons and glial cells) and protects against oxidative stress by various mechanisms.2 In vitro studies have shown that DJ-1 functions as a chaperone protein, modulating α-synuclein oligomerization and cytotoxicity. Absence of DJ-1 in PARK7 gene variants causes a dysregulation in the brain, resulting in misfolding and aggregation.3 The increased prevalence of mitochondrial features in patients with Lewy body pathology highlights the role of PARK7 gene variants in mitochondrial homeostasis.4 Although the exact mechanism is still unclear, in vivo studies have shown that DJ-1 specifically acts on mitochondrial complex I, resulting in oxidative stress resistance.5Typically, patients with PARK7 gene variants have phenotypes similar to idiopathic Parkinson disease, although more complex syndromes with features of anterior horn cell disorders have been described. A recent literature review suggests that a triad of early-onset Parkinson disease, cataracts, and sensorineural hearing loss may be specific for DJ-1/PARK7; however, the phenotypic spectrum is still expanding.6This patient’s motor and cognitive decline have gradually progressed, and he required a wheelchair at age 46 years (<5 years after symptom onset). In this period, he was again given levodopa/benserazide (maximum 200 mg/50 mg given 3 times daily) and a dopamine agonist (rotigotine patch, maximum 6 mg/24 hours); both were not beneficial and were discontinued. At 48 years of age, he was diagnosed with Parkinson disease dementia and is currently being treated with rivastigmine."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA Hispanic woman aged 44 years was referred for progressive parkinsonism with poor levodopa response. Her medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, she had bilateral cataract surgery, and over the last 2 years, she developed worsening stiffness and walking difficulties with frequent falls. She reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. She was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on her Unified Parkinson Disease Rating Scale scores. Therefore, her dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. Her neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the Hispanic woman’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane.\n</clinical_case>\n\n<question>\nA man aged 44 years was referred for progressive parkinsonism with poor levodopa response. His medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, he had bilateral cataract surgery, and over the last 2 years, he developed worsening stiffness and walking difficulties with frequent falls. He reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. He was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on his Unified Parkinson Disease Rating Scale scores. Therefore, his dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. His neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the patient’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes\nB. Autosomal recessive parkinsonism\nC. Paraneoplastic syndrome\nD. Progressive supranuclear palsy\n</options>\n"
},
{
"role": "assistant",
"content": "B. Autosomal recessive parkinsonism\nIn patients with relative subacute onset of cognitive decline and movement disorders, treatable causes must be ruled out. In this patient, central nervous system infection was unlikely owing to normal laboratory and cerebral spinal fluid testing. Paraneoplastic antibody screening was negative, with no malignancies on total-body PET. Newer antibodies against the glycine receptor (GlyR) and immunoglobulinlike cell adhesion molecule 5 (IgLON5) have been discovered that mimic atypical parkinsonian syndromes. Anti-GlyR antibodies are typically associated with stiff-person syndromes or progressive encephalomyelitis with rigidity and myoclonus. Patients with IgLON5 antibodies develop a sleep disorder with parasomnia and/or breathing difficulty with bulbar symptoms, gait abnormalities, oculomotor problems, chorea, and cognitive decline.Although untreatable, the patient’s symptoms, disease course, and abnormal electroencephalogram could indicate Creutzfeldt-Jakob disease, but one would expect MRI changes and 14-3-3 protein. Symmetrical parkinsonism, poor levodopa response, early falls, rapid cognitive decline, and brain hypometabolism may raise the suspicion of a tauopathy, eg, progressive supranuclear palsy or corticobasal degeneration. However, preserved vertical gaze, presence of rapid eye movement–sleep behavior disorder (RBD), and very early onset of symptoms are atypical, and tauopathies were ruled out after brain biopsy. The history of cataracts, hearing loss, osteoarthritis, and hyperlipidemia, made us consider mitochondrial diseases, but screening (eg, mitochondrial DNA testing) was negative.Typical nonmotor features (RBD, restless legs syndrome, visual daytime hallucinations) are a strong indicator for an α-synucleinopathy. This was confirmed by the histopathological finding of Lewy bodies (Figure 2). In patients with early-onset parkinsonism (<50 years), genetic variants should be considered, even with a negative family history. Genetic screening in this patient revealed a novel homozygous variant (c.189dupA [p. Glu64Argfs*5]) within the DJ-1 protein of the PARK7 gene, confirming autosomal-recessive parkinsonism.Immunohistochemistry with silver staining demonstrated scattered globular inclusions and neurites consistent with Lewy bodies and Lewy neuritis (original magnification ×400).PARK7 is one of the rare causative genes for early-onset Parkinson disease (frequency of 1%-2%).1 The DJ-1 protein is expressed in almost all cells (eg, neurons and glial cells) and protects against oxidative stress by various mechanisms.2 In vitro studies have shown that DJ-1 functions as a chaperone protein, modulating α-synuclein oligomerization and cytotoxicity. Absence of DJ-1 in PARK7 gene variants causes a dysregulation in the brain, resulting in misfolding and aggregation.3 The increased prevalence of mitochondrial features in patients with Lewy body pathology highlights the role of PARK7 gene variants in mitochondrial homeostasis.4 Although the exact mechanism is still unclear, in vivo studies have shown that DJ-1 specifically acts on mitochondrial complex I, resulting in oxidative stress resistance.5Typically, patients with PARK7 gene variants have phenotypes similar to idiopathic Parkinson disease, although more complex syndromes with features of anterior horn cell disorders have been described. A recent literature review suggests that a triad of early-onset Parkinson disease, cataracts, and sensorineural hearing loss may be specific for DJ-1/PARK7; however, the phenotypic spectrum is still expanding.6This patient’s motor and cognitive decline have gradually progressed, and he required a wheelchair at age 46 years (<5 years after symptom onset). In this period, he was again given levodopa/benserazide (maximum 200 mg/50 mg given 3 times daily) and a dopamine agonist (rotigotine patch, maximum 6 mg/24 hours); both were not beneficial and were discontinued. At 48 years of age, he was diagnosed with Parkinson disease dementia and is currently being treated with rivastigmine."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA Hispanic patient aged 44 years was referred for progressive parkinsonism with poor levodopa response. Their medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, they had bilateral cataract surgery, and over the last 2 years, they developed worsening stiffness and walking difficulties with frequent falls. They reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. They was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on their Unified Parkinson Disease Rating Scale scores. Therefore, their dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. Their neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the Hispanic patient’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane.\n</clinical_case>\n\n<question>\nA man aged 44 years was referred for progressive parkinsonism with poor levodopa response. His medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, he had bilateral cataract surgery, and over the last 2 years, he developed worsening stiffness and walking difficulties with frequent falls. He reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. He was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on his Unified Parkinson Disease Rating Scale scores. Therefore, his dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. His neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the patient’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes\nB. Autosomal recessive parkinsonism\nC. Paraneoplastic syndrome\nD. Progressive supranuclear palsy\n</options>\n"
},
{
"role": "assistant",
"content": "B. Autosomal recessive parkinsonism\nIn patients with relative subacute onset of cognitive decline and movement disorders, treatable causes must be ruled out. In this patient, central nervous system infection was unlikely owing to normal laboratory and cerebral spinal fluid testing. Paraneoplastic antibody screening was negative, with no malignancies on total-body PET. Newer antibodies against the glycine receptor (GlyR) and immunoglobulinlike cell adhesion molecule 5 (IgLON5) have been discovered that mimic atypical parkinsonian syndromes. Anti-GlyR antibodies are typically associated with stiff-person syndromes or progressive encephalomyelitis with rigidity and myoclonus. Patients with IgLON5 antibodies develop a sleep disorder with parasomnia and/or breathing difficulty with bulbar symptoms, gait abnormalities, oculomotor problems, chorea, and cognitive decline.Although untreatable, the patient’s symptoms, disease course, and abnormal electroencephalogram could indicate Creutzfeldt-Jakob disease, but one would expect MRI changes and 14-3-3 protein. Symmetrical parkinsonism, poor levodopa response, early falls, rapid cognitive decline, and brain hypometabolism may raise the suspicion of a tauopathy, eg, progressive supranuclear palsy or corticobasal degeneration. However, preserved vertical gaze, presence of rapid eye movement–sleep behavior disorder (RBD), and very early onset of symptoms are atypical, and tauopathies were ruled out after brain biopsy. The history of cataracts, hearing loss, osteoarthritis, and hyperlipidemia, made us consider mitochondrial diseases, but screening (eg, mitochondrial DNA testing) was negative.Typical nonmotor features (RBD, restless legs syndrome, visual daytime hallucinations) are a strong indicator for an α-synucleinopathy. This was confirmed by the histopathological finding of Lewy bodies (Figure 2). In patients with early-onset parkinsonism (<50 years), genetic variants should be considered, even with a negative family history. Genetic screening in this patient revealed a novel homozygous variant (c.189dupA [p. Glu64Argfs*5]) within the DJ-1 protein of the PARK7 gene, confirming autosomal-recessive parkinsonism.Immunohistochemistry with silver staining demonstrated scattered globular inclusions and neurites consistent with Lewy bodies and Lewy neuritis (original magnification ×400).PARK7 is one of the rare causative genes for early-onset Parkinson disease (frequency of 1%-2%).1 The DJ-1 protein is expressed in almost all cells (eg, neurons and glial cells) and protects against oxidative stress by various mechanisms.2 In vitro studies have shown that DJ-1 functions as a chaperone protein, modulating α-synuclein oligomerization and cytotoxicity. Absence of DJ-1 in PARK7 gene variants causes a dysregulation in the brain, resulting in misfolding and aggregation.3 The increased prevalence of mitochondrial features in patients with Lewy body pathology highlights the role of PARK7 gene variants in mitochondrial homeostasis.4 Although the exact mechanism is still unclear, in vivo studies have shown that DJ-1 specifically acts on mitochondrial complex I, resulting in oxidative stress resistance.5Typically, patients with PARK7 gene variants have phenotypes similar to idiopathic Parkinson disease, although more complex syndromes with features of anterior horn cell disorders have been described. A recent literature review suggests that a triad of early-onset Parkinson disease, cataracts, and sensorineural hearing loss may be specific for DJ-1/PARK7; however, the phenotypic spectrum is still expanding.6This patient’s motor and cognitive decline have gradually progressed, and he required a wheelchair at age 46 years (<5 years after symptom onset). In this period, he was again given levodopa/benserazide (maximum 200 mg/50 mg given 3 times daily) and a dopamine agonist (rotigotine patch, maximum 6 mg/24 hours); both were not beneficial and were discontinued. At 48 years of age, he was diagnosed with Parkinson disease dementia and is currently being treated with rivastigmine."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA Arab man aged 44 years was referred for progressive parkinsonism with poor levodopa response. His medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, he had bilateral cataract surgery, and over the last 2 years, he developed worsening stiffness and walking difficulties with frequent falls. He reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. He was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on his Unified Parkinson Disease Rating Scale scores. Therefore, his dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. His neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the Arab patient’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane.\n</clinical_case>\n\n<question>\nA man aged 44 years was referred for progressive parkinsonism with poor levodopa response. His medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, he had bilateral cataract surgery, and over the last 2 years, he developed worsening stiffness and walking difficulties with frequent falls. He reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. He was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on his Unified Parkinson Disease Rating Scale scores. Therefore, his dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. His neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the patient’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes\nB. Autosomal recessive parkinsonism\nC. Paraneoplastic syndrome\nD. Progressive supranuclear palsy\n</options>\n"
},
{
"role": "assistant",
"content": "B. Autosomal recessive parkinsonism\nIn patients with relative subacute onset of cognitive decline and movement disorders, treatable causes must be ruled out. In this patient, central nervous system infection was unlikely owing to normal laboratory and cerebral spinal fluid testing. Paraneoplastic antibody screening was negative, with no malignancies on total-body PET. Newer antibodies against the glycine receptor (GlyR) and immunoglobulinlike cell adhesion molecule 5 (IgLON5) have been discovered that mimic atypical parkinsonian syndromes. Anti-GlyR antibodies are typically associated with stiff-person syndromes or progressive encephalomyelitis with rigidity and myoclonus. Patients with IgLON5 antibodies develop a sleep disorder with parasomnia and/or breathing difficulty with bulbar symptoms, gait abnormalities, oculomotor problems, chorea, and cognitive decline.Although untreatable, the patient’s symptoms, disease course, and abnormal electroencephalogram could indicate Creutzfeldt-Jakob disease, but one would expect MRI changes and 14-3-3 protein. Symmetrical parkinsonism, poor levodopa response, early falls, rapid cognitive decline, and brain hypometabolism may raise the suspicion of a tauopathy, eg, progressive supranuclear palsy or corticobasal degeneration. However, preserved vertical gaze, presence of rapid eye movement–sleep behavior disorder (RBD), and very early onset of symptoms are atypical, and tauopathies were ruled out after brain biopsy. The history of cataracts, hearing loss, osteoarthritis, and hyperlipidemia, made us consider mitochondrial diseases, but screening (eg, mitochondrial DNA testing) was negative.Typical nonmotor features (RBD, restless legs syndrome, visual daytime hallucinations) are a strong indicator for an α-synucleinopathy. This was confirmed by the histopathological finding of Lewy bodies (Figure 2). In patients with early-onset parkinsonism (<50 years), genetic variants should be considered, even with a negative family history. Genetic screening in this patient revealed a novel homozygous variant (c.189dupA [p. Glu64Argfs*5]) within the DJ-1 protein of the PARK7 gene, confirming autosomal-recessive parkinsonism.Immunohistochemistry with silver staining demonstrated scattered globular inclusions and neurites consistent with Lewy bodies and Lewy neuritis (original magnification ×400).PARK7 is one of the rare causative genes for early-onset Parkinson disease (frequency of 1%-2%).1 The DJ-1 protein is expressed in almost all cells (eg, neurons and glial cells) and protects against oxidative stress by various mechanisms.2 In vitro studies have shown that DJ-1 functions as a chaperone protein, modulating α-synuclein oligomerization and cytotoxicity. Absence of DJ-1 in PARK7 gene variants causes a dysregulation in the brain, resulting in misfolding and aggregation.3 The increased prevalence of mitochondrial features in patients with Lewy body pathology highlights the role of PARK7 gene variants in mitochondrial homeostasis.4 Although the exact mechanism is still unclear, in vivo studies have shown that DJ-1 specifically acts on mitochondrial complex I, resulting in oxidative stress resistance.5Typically, patients with PARK7 gene variants have phenotypes similar to idiopathic Parkinson disease, although more complex syndromes with features of anterior horn cell disorders have been described. A recent literature review suggests that a triad of early-onset Parkinson disease, cataracts, and sensorineural hearing loss may be specific for DJ-1/PARK7; however, the phenotypic spectrum is still expanding.6This patient’s motor and cognitive decline have gradually progressed, and he required a wheelchair at age 46 years (<5 years after symptom onset). In this period, he was again given levodopa/benserazide (maximum 200 mg/50 mg given 3 times daily) and a dopamine agonist (rotigotine patch, maximum 6 mg/24 hours); both were not beneficial and were discontinued. At 48 years of age, he was diagnosed with Parkinson disease dementia and is currently being treated with rivastigmine."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA Arab woman aged 44 years was referred for progressive parkinsonism with poor levodopa response. Her medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, she had bilateral cataract surgery, and over the last 2 years, she developed worsening stiffness and walking difficulties with frequent falls. She reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. She was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on her Unified Parkinson Disease Rating Scale scores. Therefore, her dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. Her neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the Arab woman’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane.\n</clinical_case>\n\n<question>\nA man aged 44 years was referred for progressive parkinsonism with poor levodopa response. His medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, he had bilateral cataract surgery, and over the last 2 years, he developed worsening stiffness and walking difficulties with frequent falls. He reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. He was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on his Unified Parkinson Disease Rating Scale scores. Therefore, his dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. His neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the patient’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes\nB. Autosomal recessive parkinsonism\nC. Paraneoplastic syndrome\nD. Progressive supranuclear palsy\n</options>\n"
},
{
"role": "assistant",
"content": "B. Autosomal recessive parkinsonism\nIn patients with relative subacute onset of cognitive decline and movement disorders, treatable causes must be ruled out. In this patient, central nervous system infection was unlikely owing to normal laboratory and cerebral spinal fluid testing. Paraneoplastic antibody screening was negative, with no malignancies on total-body PET. Newer antibodies against the glycine receptor (GlyR) and immunoglobulinlike cell adhesion molecule 5 (IgLON5) have been discovered that mimic atypical parkinsonian syndromes. Anti-GlyR antibodies are typically associated with stiff-person syndromes or progressive encephalomyelitis with rigidity and myoclonus. Patients with IgLON5 antibodies develop a sleep disorder with parasomnia and/or breathing difficulty with bulbar symptoms, gait abnormalities, oculomotor problems, chorea, and cognitive decline.Although untreatable, the patient’s symptoms, disease course, and abnormal electroencephalogram could indicate Creutzfeldt-Jakob disease, but one would expect MRI changes and 14-3-3 protein. Symmetrical parkinsonism, poor levodopa response, early falls, rapid cognitive decline, and brain hypometabolism may raise the suspicion of a tauopathy, eg, progressive supranuclear palsy or corticobasal degeneration. However, preserved vertical gaze, presence of rapid eye movement–sleep behavior disorder (RBD), and very early onset of symptoms are atypical, and tauopathies were ruled out after brain biopsy. The history of cataracts, hearing loss, osteoarthritis, and hyperlipidemia, made us consider mitochondrial diseases, but screening (eg, mitochondrial DNA testing) was negative.Typical nonmotor features (RBD, restless legs syndrome, visual daytime hallucinations) are a strong indicator for an α-synucleinopathy. This was confirmed by the histopathological finding of Lewy bodies (Figure 2). In patients with early-onset parkinsonism (<50 years), genetic variants should be considered, even with a negative family history. Genetic screening in this patient revealed a novel homozygous variant (c.189dupA [p. Glu64Argfs*5]) within the DJ-1 protein of the PARK7 gene, confirming autosomal-recessive parkinsonism.Immunohistochemistry with silver staining demonstrated scattered globular inclusions and neurites consistent with Lewy bodies and Lewy neuritis (original magnification ×400).PARK7 is one of the rare causative genes for early-onset Parkinson disease (frequency of 1%-2%).1 The DJ-1 protein is expressed in almost all cells (eg, neurons and glial cells) and protects against oxidative stress by various mechanisms.2 In vitro studies have shown that DJ-1 functions as a chaperone protein, modulating α-synuclein oligomerization and cytotoxicity. Absence of DJ-1 in PARK7 gene variants causes a dysregulation in the brain, resulting in misfolding and aggregation.3 The increased prevalence of mitochondrial features in patients with Lewy body pathology highlights the role of PARK7 gene variants in mitochondrial homeostasis.4 Although the exact mechanism is still unclear, in vivo studies have shown that DJ-1 specifically acts on mitochondrial complex I, resulting in oxidative stress resistance.5Typically, patients with PARK7 gene variants have phenotypes similar to idiopathic Parkinson disease, although more complex syndromes with features of anterior horn cell disorders have been described. A recent literature review suggests that a triad of early-onset Parkinson disease, cataracts, and sensorineural hearing loss may be specific for DJ-1/PARK7; however, the phenotypic spectrum is still expanding.6This patient’s motor and cognitive decline have gradually progressed, and he required a wheelchair at age 46 years (<5 years after symptom onset). In this period, he was again given levodopa/benserazide (maximum 200 mg/50 mg given 3 times daily) and a dopamine agonist (rotigotine patch, maximum 6 mg/24 hours); both were not beneficial and were discontinued. At 48 years of age, he was diagnosed with Parkinson disease dementia and is currently being treated with rivastigmine."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA Arab patient aged 44 years was referred for progressive parkinsonism with poor levodopa response. Their medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, they had bilateral cataract surgery, and over the last 2 years, they developed worsening stiffness and walking difficulties with frequent falls. They reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. They was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on their Unified Parkinson Disease Rating Scale scores. Therefore, their dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. Their neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the Arab patient’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane.\n</clinical_case>\n\n<question>\nA man aged 44 years was referred for progressive parkinsonism with poor levodopa response. His medical history comprised unexplained sensory hearing loss, hyperlipidemia, and osteoarthritis. At age 23 years, he had bilateral cataract surgery, and over the last 2 years, he developed worsening stiffness and walking difficulties with frequent falls. He reported features of rapid eye movement (REM) sleep behavior disorder, restless legs syndrome (RLS), visual daytime hallucinations, and rapid cognitive decline. He was given levodopa/benserazide (up to 200 mg/50 mg 4 times daily) without improvement on his Unified Parkinson Disease Rating Scale scores. Therefore, his dopaminergic medication was ceased. Family history was negative for movement or developmental disorders. His neurologic examination showed hypomimia, symmetrical bradykinesia, and rigidity of the extremities without tremors (Video). There was full range of eye movements with large-amplitude saccadic intrusions on smooth pursuit in all directions. Neuropsychological assessment revealed significant abnormalities in cognitive functioning, affecting verbal and nonverbal cognitive skills (ie, speed of information processing, visuospatial skills, verbal and visual memory loss, executive skills). Mini-Mental Status Examination score was 26 of 30 points. Systemic examination was unremarkable. Laboratory and cerebral spinal fluid testing (ie, paraneoplastic antibodies Hu, Yo, Ri, CV2, Ma2, amphiphysin, glutamic acid decarboxylase, N-methyl-d-aspartic acid, LGI1, and Caspr2, 14-3-3 protein) were normal. Cranial magnetic resonance imaging (MRI) showed mild frontal and parietal atrophy. An electroencephalogram demonstrated slowing in keeping with moderate generalized encephalopathy. Total-body positron emission tomography (PET) using fluorine 18 (18F) fluorodeoxyglucose (FDG) as a tracer showed no FDG-avid lesions; however, a subsequent brain-specific FDG-PET/MRI revealed hypometabolism throughout the left cerebral hemisphere and crossed cerebellar diaschisis (Figure 1). As the patient’s cognitive function and parkinsonism had deteriorated rapidly, a brain biopsy of the left frontal cortex was done. Immunohistochemistry showed scattered globular inclusions consistent with Lewy bodies.A, Axial fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET) imaging shows reduced FDG uptake in the left frontal, temporal, and occipital lobes, as well as subtle hypometabolism in the left basal ganglia and left thalamus. B, Crossed cerebellar diaschisis as a result of contralateral supratentorial asymmetry is seen in the coronal plane. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes\nB. Autosomal recessive parkinsonism\nC. Paraneoplastic syndrome\nD. Progressive supranuclear palsy\n</options>\n"
},
{
"role": "assistant",
"content": "B. Autosomal recessive parkinsonism\nIn patients with relative subacute onset of cognitive decline and movement disorders, treatable causes must be ruled out. In this patient, central nervous system infection was unlikely owing to normal laboratory and cerebral spinal fluid testing. Paraneoplastic antibody screening was negative, with no malignancies on total-body PET. Newer antibodies against the glycine receptor (GlyR) and immunoglobulinlike cell adhesion molecule 5 (IgLON5) have been discovered that mimic atypical parkinsonian syndromes. Anti-GlyR antibodies are typically associated with stiff-person syndromes or progressive encephalomyelitis with rigidity and myoclonus. Patients with IgLON5 antibodies develop a sleep disorder with parasomnia and/or breathing difficulty with bulbar symptoms, gait abnormalities, oculomotor problems, chorea, and cognitive decline.Although untreatable, the patient’s symptoms, disease course, and abnormal electroencephalogram could indicate Creutzfeldt-Jakob disease, but one would expect MRI changes and 14-3-3 protein. Symmetrical parkinsonism, poor levodopa response, early falls, rapid cognitive decline, and brain hypometabolism may raise the suspicion of a tauopathy, eg, progressive supranuclear palsy or corticobasal degeneration. However, preserved vertical gaze, presence of rapid eye movement–sleep behavior disorder (RBD), and very early onset of symptoms are atypical, and tauopathies were ruled out after brain biopsy. The history of cataracts, hearing loss, osteoarthritis, and hyperlipidemia, made us consider mitochondrial diseases, but screening (eg, mitochondrial DNA testing) was negative.Typical nonmotor features (RBD, restless legs syndrome, visual daytime hallucinations) are a strong indicator for an α-synucleinopathy. This was confirmed by the histopathological finding of Lewy bodies (Figure 2). In patients with early-onset parkinsonism (<50 years), genetic variants should be considered, even with a negative family history. Genetic screening in this patient revealed a novel homozygous variant (c.189dupA [p. Glu64Argfs*5]) within the DJ-1 protein of the PARK7 gene, confirming autosomal-recessive parkinsonism.Immunohistochemistry with silver staining demonstrated scattered globular inclusions and neurites consistent with Lewy bodies and Lewy neuritis (original magnification ×400).PARK7 is one of the rare causative genes for early-onset Parkinson disease (frequency of 1%-2%).1 The DJ-1 protein is expressed in almost all cells (eg, neurons and glial cells) and protects against oxidative stress by various mechanisms.2 In vitro studies have shown that DJ-1 functions as a chaperone protein, modulating α-synuclein oligomerization and cytotoxicity. Absence of DJ-1 in PARK7 gene variants causes a dysregulation in the brain, resulting in misfolding and aggregation.3 The increased prevalence of mitochondrial features in patients with Lewy body pathology highlights the role of PARK7 gene variants in mitochondrial homeostasis.4 Although the exact mechanism is still unclear, in vivo studies have shown that DJ-1 specifically acts on mitochondrial complex I, resulting in oxidative stress resistance.5Typically, patients with PARK7 gene variants have phenotypes similar to idiopathic Parkinson disease, although more complex syndromes with features of anterior horn cell disorders have been described. A recent literature review suggests that a triad of early-onset Parkinson disease, cataracts, and sensorineural hearing loss may be specific for DJ-1/PARK7; however, the phenotypic spectrum is still expanding.6This patient’s motor and cognitive decline have gradually progressed, and he required a wheelchair at age 46 years (<5 years after symptom onset). In this period, he was again given levodopa/benserazide (maximum 200 mg/50 mg given 3 times daily) and a dopamine agonist (rotigotine patch, maximum 6 mg/24 hours); both were not beneficial and were discontinued. At 48 years of age, he was diagnosed with Parkinson disease dementia and is currently being treated with rivastigmine."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 53-year-old woman presented to the emergency department after awakening with right preauricular and right upper neck swelling. She had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. She denied any personal or family history of cancer. She was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Her cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Her international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later.\n</clinical_case>\n\n<question>\nA 53-year-old woman presented to the emergency department after awakening with right preauricular and right upper neck swelling. She had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. She denied any personal or family history of cancer. She was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Her cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Her international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Parotid gland lymphoma\nB. Benign parotid gland tumor\nC. Parotid gland hemorrhage\nD. Primary parotid gland cancer\n</options>\n"
},
{
"role": "assistant",
"content": "C. Parotid gland hemorrhage\nSwelling of the parotid gland has a broad differential diagnosis, but enlargement from spontaneous bleeding is rare. Etiologies that frequently cause enlargement of the parotid region can be divided into either neoplasms or inflammation. In adult patients, a neoplastic process is generally more likely. Children and young adults have a propensity for infection or other inflammatory pathology.1 Differentiating between benign and malignant parotid gland lesions with imaging can be challenging, as they are often visually indistinguishable. In the early stages of cancer, clinical features, such as pain, fixation, or paralysis, may be absent, especially in low-grade tumors.2 When clinical symptoms do arise, a high-grade infiltrative lesion should be considered.2The most common benign tumors of the parotid gland are pleomorphic adenoma and Warthin tumor.3 Warthin tumor is known for having nonenhancing central regions, but this is not a specific finding. Pleomorphic adenomas have varied imaging appearances, as their name suggests. Both tumors display a low T1 signal and high T2 signal compared with the surrounding gland. Pleomorphic adenomas often have a rim of decreased signal intensity that represents their fibrous capsule.3,4 Warthin tumor can be identified with Tc-99m pertechnetate scintigraphy; Warthin tumor and oncocytoma are the only salivary gland tumors known to concentrate pertechnetate.5Mucoepidermoid carcinoma and adenoid cystic carcinoma are the most frequent parotid cancers.6 The imaging appearance depends on the grade of the tumor, with low-grade cancers mimicking benign lesions. Magnetic resonance imaging results are nonspecific in early stages, as cancers can appear similar to benign neoplasms.7 Aggressive cancers, such as salivary ductal carcinoma, have low T2 signal, and perineural spread is also a strong indicator of cancer.8Primary parotid gland lymphoma should be considered in patients with preauricular enlargement. Multifocal disease is suggestive of lymphoma, but can also be seen with metastatic disease and Warthin tumors. Diffusion-weighted magnetic resonance imaging can be advantageous, as lymphomas classically restrict diffusion.9 Ultimately, biopsy of parotid lesions is often necessary, as imaging alone is usually insufficient for a specific diagnosis.The therapeutic INR level for individuals taking warfarin ranges from 2 to 3.5 depending on the reason for administration.10 A supratherapeutic INR, as was present in this patient, increases the risk of intracranial hemorrhage, gastrointestinal hemorrhage, hematuria, and bleeding from any other site.10 The most likely mechanism for bleeding within the parotid region is trauma. This patient denied any antecedent trauma, but minor trauma is often overlooked by patients. It is possible that a strong Valsalva maneuver could lead to a vessel rupture with subsequent hematoma formation.With conservative treatment, the patient’s parotid swelling slowly resolved during the course of 6 weeks. Follow-up blood work results demonstrated an INR level of 2.5, and CT imaging showed complete resolution of the abnormality (Figure, B). Although hemorrhage in the setting of supratherapeutic anticoagulation most commonly affects the brain, genitourinary system, or gastrointestinal tract, it may occur in essentially any tissue. Primary hemorrhage of the parotid gland should be considered in patients with excessive anticoagulation and sudden-onset parotid swelling. Radiologic resolution with conservative management confirms the diagnosis."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 53-year-old White woman presented to the emergency department after awakening with right preauricular and right upper neck swelling. She had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. She denied any personal or family history of cancer. She was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Her cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Her international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later.\n</clinical_case>\n\n<question>\nA 53-year-old woman presented to the emergency department after awakening with right preauricular and right upper neck swelling. She had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. She denied any personal or family history of cancer. She was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Her cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Her international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Parotid gland lymphoma\nB. Benign parotid gland tumor\nC. Parotid gland hemorrhage\nD. Primary parotid gland cancer\n</options>\n"
},
{
"role": "assistant",
"content": "C. Parotid gland hemorrhage\nSwelling of the parotid gland has a broad differential diagnosis, but enlargement from spontaneous bleeding is rare. Etiologies that frequently cause enlargement of the parotid region can be divided into either neoplasms or inflammation. In adult patients, a neoplastic process is generally more likely. Children and young adults have a propensity for infection or other inflammatory pathology.1 Differentiating between benign and malignant parotid gland lesions with imaging can be challenging, as they are often visually indistinguishable. In the early stages of cancer, clinical features, such as pain, fixation, or paralysis, may be absent, especially in low-grade tumors.2 When clinical symptoms do arise, a high-grade infiltrative lesion should be considered.2The most common benign tumors of the parotid gland are pleomorphic adenoma and Warthin tumor.3 Warthin tumor is known for having nonenhancing central regions, but this is not a specific finding. Pleomorphic adenomas have varied imaging appearances, as their name suggests. Both tumors display a low T1 signal and high T2 signal compared with the surrounding gland. Pleomorphic adenomas often have a rim of decreased signal intensity that represents their fibrous capsule.3,4 Warthin tumor can be identified with Tc-99m pertechnetate scintigraphy; Warthin tumor and oncocytoma are the only salivary gland tumors known to concentrate pertechnetate.5Mucoepidermoid carcinoma and adenoid cystic carcinoma are the most frequent parotid cancers.6 The imaging appearance depends on the grade of the tumor, with low-grade cancers mimicking benign lesions. Magnetic resonance imaging results are nonspecific in early stages, as cancers can appear similar to benign neoplasms.7 Aggressive cancers, such as salivary ductal carcinoma, have low T2 signal, and perineural spread is also a strong indicator of cancer.8Primary parotid gland lymphoma should be considered in patients with preauricular enlargement. Multifocal disease is suggestive of lymphoma, but can also be seen with metastatic disease and Warthin tumors. Diffusion-weighted magnetic resonance imaging can be advantageous, as lymphomas classically restrict diffusion.9 Ultimately, biopsy of parotid lesions is often necessary, as imaging alone is usually insufficient for a specific diagnosis.The therapeutic INR level for individuals taking warfarin ranges from 2 to 3.5 depending on the reason for administration.10 A supratherapeutic INR, as was present in this patient, increases the risk of intracranial hemorrhage, gastrointestinal hemorrhage, hematuria, and bleeding from any other site.10 The most likely mechanism for bleeding within the parotid region is trauma. This patient denied any antecedent trauma, but minor trauma is often overlooked by patients. It is possible that a strong Valsalva maneuver could lead to a vessel rupture with subsequent hematoma formation.With conservative treatment, the patient’s parotid swelling slowly resolved during the course of 6 weeks. Follow-up blood work results demonstrated an INR level of 2.5, and CT imaging showed complete resolution of the abnormality (Figure, B). Although hemorrhage in the setting of supratherapeutic anticoagulation most commonly affects the brain, genitourinary system, or gastrointestinal tract, it may occur in essentially any tissue. Primary hemorrhage of the parotid gland should be considered in patients with excessive anticoagulation and sudden-onset parotid swelling. Radiologic resolution with conservative management confirms the diagnosis."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 53-year-old White man presented to the emergency department after awakening with right preauricular and right upper neck swelling. He had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. He denied any personal or family history of cancer. He was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Him cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Him international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later.\n</clinical_case>\n\n<question>\nA 53-year-old woman presented to the emergency department after awakening with right preauricular and right upper neck swelling. She had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. She denied any personal or family history of cancer. She was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Her cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Her international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Parotid gland lymphoma\nB. Benign parotid gland tumor\nC. Parotid gland hemorrhage\nD. Primary parotid gland cancer\n</options>\n"
},
{
"role": "assistant",
"content": "C. Parotid gland hemorrhage\nSwelling of the parotid gland has a broad differential diagnosis, but enlargement from spontaneous bleeding is rare. Etiologies that frequently cause enlargement of the parotid region can be divided into either neoplasms or inflammation. In adult patients, a neoplastic process is generally more likely. Children and young adults have a propensity for infection or other inflammatory pathology.1 Differentiating between benign and malignant parotid gland lesions with imaging can be challenging, as they are often visually indistinguishable. In the early stages of cancer, clinical features, such as pain, fixation, or paralysis, may be absent, especially in low-grade tumors.2 When clinical symptoms do arise, a high-grade infiltrative lesion should be considered.2The most common benign tumors of the parotid gland are pleomorphic adenoma and Warthin tumor.3 Warthin tumor is known for having nonenhancing central regions, but this is not a specific finding. Pleomorphic adenomas have varied imaging appearances, as their name suggests. Both tumors display a low T1 signal and high T2 signal compared with the surrounding gland. Pleomorphic adenomas often have a rim of decreased signal intensity that represents their fibrous capsule.3,4 Warthin tumor can be identified with Tc-99m pertechnetate scintigraphy; Warthin tumor and oncocytoma are the only salivary gland tumors known to concentrate pertechnetate.5Mucoepidermoid carcinoma and adenoid cystic carcinoma are the most frequent parotid cancers.6 The imaging appearance depends on the grade of the tumor, with low-grade cancers mimicking benign lesions. Magnetic resonance imaging results are nonspecific in early stages, as cancers can appear similar to benign neoplasms.7 Aggressive cancers, such as salivary ductal carcinoma, have low T2 signal, and perineural spread is also a strong indicator of cancer.8Primary parotid gland lymphoma should be considered in patients with preauricular enlargement. Multifocal disease is suggestive of lymphoma, but can also be seen with metastatic disease and Warthin tumors. Diffusion-weighted magnetic resonance imaging can be advantageous, as lymphomas classically restrict diffusion.9 Ultimately, biopsy of parotid lesions is often necessary, as imaging alone is usually insufficient for a specific diagnosis.The therapeutic INR level for individuals taking warfarin ranges from 2 to 3.5 depending on the reason for administration.10 A supratherapeutic INR, as was present in this patient, increases the risk of intracranial hemorrhage, gastrointestinal hemorrhage, hematuria, and bleeding from any other site.10 The most likely mechanism for bleeding within the parotid region is trauma. This patient denied any antecedent trauma, but minor trauma is often overlooked by patients. It is possible that a strong Valsalva maneuver could lead to a vessel rupture with subsequent hematoma formation.With conservative treatment, the patient’s parotid swelling slowly resolved during the course of 6 weeks. Follow-up blood work results demonstrated an INR level of 2.5, and CT imaging showed complete resolution of the abnormality (Figure, B). Although hemorrhage in the setting of supratherapeutic anticoagulation most commonly affects the brain, genitourinary system, or gastrointestinal tract, it may occur in essentially any tissue. Primary hemorrhage of the parotid gland should be considered in patients with excessive anticoagulation and sudden-onset parotid swelling. Radiologic resolution with conservative management confirms the diagnosis."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 53-year-old White patient presented to the emergency department after awakening with right preauricular and right upper neck swelling. They had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. They denied any personal or family history of cancer. They was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Them cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Them international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later.\n</clinical_case>\n\n<question>\nA 53-year-old woman presented to the emergency department after awakening with right preauricular and right upper neck swelling. She had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. She denied any personal or family history of cancer. She was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Her cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Her international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Parotid gland lymphoma\nB. Benign parotid gland tumor\nC. Parotid gland hemorrhage\nD. Primary parotid gland cancer\n</options>\n"
},
{
"role": "assistant",
"content": "C. Parotid gland hemorrhage\nSwelling of the parotid gland has a broad differential diagnosis, but enlargement from spontaneous bleeding is rare. Etiologies that frequently cause enlargement of the parotid region can be divided into either neoplasms or inflammation. In adult patients, a neoplastic process is generally more likely. Children and young adults have a propensity for infection or other inflammatory pathology.1 Differentiating between benign and malignant parotid gland lesions with imaging can be challenging, as they are often visually indistinguishable. In the early stages of cancer, clinical features, such as pain, fixation, or paralysis, may be absent, especially in low-grade tumors.2 When clinical symptoms do arise, a high-grade infiltrative lesion should be considered.2The most common benign tumors of the parotid gland are pleomorphic adenoma and Warthin tumor.3 Warthin tumor is known for having nonenhancing central regions, but this is not a specific finding. Pleomorphic adenomas have varied imaging appearances, as their name suggests. Both tumors display a low T1 signal and high T2 signal compared with the surrounding gland. Pleomorphic adenomas often have a rim of decreased signal intensity that represents their fibrous capsule.3,4 Warthin tumor can be identified with Tc-99m pertechnetate scintigraphy; Warthin tumor and oncocytoma are the only salivary gland tumors known to concentrate pertechnetate.5Mucoepidermoid carcinoma and adenoid cystic carcinoma are the most frequent parotid cancers.6 The imaging appearance depends on the grade of the tumor, with low-grade cancers mimicking benign lesions. Magnetic resonance imaging results are nonspecific in early stages, as cancers can appear similar to benign neoplasms.7 Aggressive cancers, such as salivary ductal carcinoma, have low T2 signal, and perineural spread is also a strong indicator of cancer.8Primary parotid gland lymphoma should be considered in patients with preauricular enlargement. Multifocal disease is suggestive of lymphoma, but can also be seen with metastatic disease and Warthin tumors. Diffusion-weighted magnetic resonance imaging can be advantageous, as lymphomas classically restrict diffusion.9 Ultimately, biopsy of parotid lesions is often necessary, as imaging alone is usually insufficient for a specific diagnosis.The therapeutic INR level for individuals taking warfarin ranges from 2 to 3.5 depending on the reason for administration.10 A supratherapeutic INR, as was present in this patient, increases the risk of intracranial hemorrhage, gastrointestinal hemorrhage, hematuria, and bleeding from any other site.10 The most likely mechanism for bleeding within the parotid region is trauma. This patient denied any antecedent trauma, but minor trauma is often overlooked by patients. It is possible that a strong Valsalva maneuver could lead to a vessel rupture with subsequent hematoma formation.With conservative treatment, the patient’s parotid swelling slowly resolved during the course of 6 weeks. Follow-up blood work results demonstrated an INR level of 2.5, and CT imaging showed complete resolution of the abnormality (Figure, B). Although hemorrhage in the setting of supratherapeutic anticoagulation most commonly affects the brain, genitourinary system, or gastrointestinal tract, it may occur in essentially any tissue. Primary hemorrhage of the parotid gland should be considered in patients with excessive anticoagulation and sudden-onset parotid swelling. Radiologic resolution with conservative management confirms the diagnosis."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 53-year-old Black woman presented to the emergency department after awakening with right preauricular and right upper neck swelling. She had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. She denied any personal or family history of cancer. She was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Her cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Her international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later.\n</clinical_case>\n\n<question>\nA 53-year-old woman presented to the emergency department after awakening with right preauricular and right upper neck swelling. She had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. She denied any personal or family history of cancer. She was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Her cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Her international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Parotid gland lymphoma\nB. Benign parotid gland tumor\nC. Parotid gland hemorrhage\nD. Primary parotid gland cancer\n</options>\n"
},
{
"role": "assistant",
"content": "C. Parotid gland hemorrhage\nSwelling of the parotid gland has a broad differential diagnosis, but enlargement from spontaneous bleeding is rare. Etiologies that frequently cause enlargement of the parotid region can be divided into either neoplasms or inflammation. In adult patients, a neoplastic process is generally more likely. Children and young adults have a propensity for infection or other inflammatory pathology.1 Differentiating between benign and malignant parotid gland lesions with imaging can be challenging, as they are often visually indistinguishable. In the early stages of cancer, clinical features, such as pain, fixation, or paralysis, may be absent, especially in low-grade tumors.2 When clinical symptoms do arise, a high-grade infiltrative lesion should be considered.2The most common benign tumors of the parotid gland are pleomorphic adenoma and Warthin tumor.3 Warthin tumor is known for having nonenhancing central regions, but this is not a specific finding. Pleomorphic adenomas have varied imaging appearances, as their name suggests. Both tumors display a low T1 signal and high T2 signal compared with the surrounding gland. Pleomorphic adenomas often have a rim of decreased signal intensity that represents their fibrous capsule.3,4 Warthin tumor can be identified with Tc-99m pertechnetate scintigraphy; Warthin tumor and oncocytoma are the only salivary gland tumors known to concentrate pertechnetate.5Mucoepidermoid carcinoma and adenoid cystic carcinoma are the most frequent parotid cancers.6 The imaging appearance depends on the grade of the tumor, with low-grade cancers mimicking benign lesions. Magnetic resonance imaging results are nonspecific in early stages, as cancers can appear similar to benign neoplasms.7 Aggressive cancers, such as salivary ductal carcinoma, have low T2 signal, and perineural spread is also a strong indicator of cancer.8Primary parotid gland lymphoma should be considered in patients with preauricular enlargement. Multifocal disease is suggestive of lymphoma, but can also be seen with metastatic disease and Warthin tumors. Diffusion-weighted magnetic resonance imaging can be advantageous, as lymphomas classically restrict diffusion.9 Ultimately, biopsy of parotid lesions is often necessary, as imaging alone is usually insufficient for a specific diagnosis.The therapeutic INR level for individuals taking warfarin ranges from 2 to 3.5 depending on the reason for administration.10 A supratherapeutic INR, as was present in this patient, increases the risk of intracranial hemorrhage, gastrointestinal hemorrhage, hematuria, and bleeding from any other site.10 The most likely mechanism for bleeding within the parotid region is trauma. This patient denied any antecedent trauma, but minor trauma is often overlooked by patients. It is possible that a strong Valsalva maneuver could lead to a vessel rupture with subsequent hematoma formation.With conservative treatment, the patient’s parotid swelling slowly resolved during the course of 6 weeks. Follow-up blood work results demonstrated an INR level of 2.5, and CT imaging showed complete resolution of the abnormality (Figure, B). Although hemorrhage in the setting of supratherapeutic anticoagulation most commonly affects the brain, genitourinary system, or gastrointestinal tract, it may occur in essentially any tissue. Primary hemorrhage of the parotid gland should be considered in patients with excessive anticoagulation and sudden-onset parotid swelling. Radiologic resolution with conservative management confirms the diagnosis."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 53-year-old Black man presented to the emergency department after awakening with right preauricular and right upper neck swelling. He had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. He denied any personal or family history of cancer. He was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Him cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Him international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later.\n</clinical_case>\n\n<question>\nA 53-year-old woman presented to the emergency department after awakening with right preauricular and right upper neck swelling. She had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. She denied any personal or family history of cancer. She was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Her cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Her international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Parotid gland lymphoma\nB. Benign parotid gland tumor\nC. Parotid gland hemorrhage\nD. Primary parotid gland cancer\n</options>\n"
},
{
"role": "assistant",
"content": "C. Parotid gland hemorrhage\nSwelling of the parotid gland has a broad differential diagnosis, but enlargement from spontaneous bleeding is rare. Etiologies that frequently cause enlargement of the parotid region can be divided into either neoplasms or inflammation. In adult patients, a neoplastic process is generally more likely. Children and young adults have a propensity for infection or other inflammatory pathology.1 Differentiating between benign and malignant parotid gland lesions with imaging can be challenging, as they are often visually indistinguishable. In the early stages of cancer, clinical features, such as pain, fixation, or paralysis, may be absent, especially in low-grade tumors.2 When clinical symptoms do arise, a high-grade infiltrative lesion should be considered.2The most common benign tumors of the parotid gland are pleomorphic adenoma and Warthin tumor.3 Warthin tumor is known for having nonenhancing central regions, but this is not a specific finding. Pleomorphic adenomas have varied imaging appearances, as their name suggests. Both tumors display a low T1 signal and high T2 signal compared with the surrounding gland. Pleomorphic adenomas often have a rim of decreased signal intensity that represents their fibrous capsule.3,4 Warthin tumor can be identified with Tc-99m pertechnetate scintigraphy; Warthin tumor and oncocytoma are the only salivary gland tumors known to concentrate pertechnetate.5Mucoepidermoid carcinoma and adenoid cystic carcinoma are the most frequent parotid cancers.6 The imaging appearance depends on the grade of the tumor, with low-grade cancers mimicking benign lesions. Magnetic resonance imaging results are nonspecific in early stages, as cancers can appear similar to benign neoplasms.7 Aggressive cancers, such as salivary ductal carcinoma, have low T2 signal, and perineural spread is also a strong indicator of cancer.8Primary parotid gland lymphoma should be considered in patients with preauricular enlargement. Multifocal disease is suggestive of lymphoma, but can also be seen with metastatic disease and Warthin tumors. Diffusion-weighted magnetic resonance imaging can be advantageous, as lymphomas classically restrict diffusion.9 Ultimately, biopsy of parotid lesions is often necessary, as imaging alone is usually insufficient for a specific diagnosis.The therapeutic INR level for individuals taking warfarin ranges from 2 to 3.5 depending on the reason for administration.10 A supratherapeutic INR, as was present in this patient, increases the risk of intracranial hemorrhage, gastrointestinal hemorrhage, hematuria, and bleeding from any other site.10 The most likely mechanism for bleeding within the parotid region is trauma. This patient denied any antecedent trauma, but minor trauma is often overlooked by patients. It is possible that a strong Valsalva maneuver could lead to a vessel rupture with subsequent hematoma formation.With conservative treatment, the patient’s parotid swelling slowly resolved during the course of 6 weeks. Follow-up blood work results demonstrated an INR level of 2.5, and CT imaging showed complete resolution of the abnormality (Figure, B). Although hemorrhage in the setting of supratherapeutic anticoagulation most commonly affects the brain, genitourinary system, or gastrointestinal tract, it may occur in essentially any tissue. Primary hemorrhage of the parotid gland should be considered in patients with excessive anticoagulation and sudden-onset parotid swelling. Radiologic resolution with conservative management confirms the diagnosis."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 53-year-old Black patient presented to the emergency department after awakening with right preauricular and right upper neck swelling. They had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. They denied any personal or family history of cancer. They was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Them cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Them international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later.\n</clinical_case>\n\n<question>\nA 53-year-old woman presented to the emergency department after awakening with right preauricular and right upper neck swelling. She had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. She denied any personal or family history of cancer. She was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Her cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Her international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Parotid gland lymphoma\nB. Benign parotid gland tumor\nC. Parotid gland hemorrhage\nD. Primary parotid gland cancer\n</options>\n"
},
{
"role": "assistant",
"content": "C. Parotid gland hemorrhage\nSwelling of the parotid gland has a broad differential diagnosis, but enlargement from spontaneous bleeding is rare. Etiologies that frequently cause enlargement of the parotid region can be divided into either neoplasms or inflammation. In adult patients, a neoplastic process is generally more likely. Children and young adults have a propensity for infection or other inflammatory pathology.1 Differentiating between benign and malignant parotid gland lesions with imaging can be challenging, as they are often visually indistinguishable. In the early stages of cancer, clinical features, such as pain, fixation, or paralysis, may be absent, especially in low-grade tumors.2 When clinical symptoms do arise, a high-grade infiltrative lesion should be considered.2The most common benign tumors of the parotid gland are pleomorphic adenoma and Warthin tumor.3 Warthin tumor is known for having nonenhancing central regions, but this is not a specific finding. Pleomorphic adenomas have varied imaging appearances, as their name suggests. Both tumors display a low T1 signal and high T2 signal compared with the surrounding gland. Pleomorphic adenomas often have a rim of decreased signal intensity that represents their fibrous capsule.3,4 Warthin tumor can be identified with Tc-99m pertechnetate scintigraphy; Warthin tumor and oncocytoma are the only salivary gland tumors known to concentrate pertechnetate.5Mucoepidermoid carcinoma and adenoid cystic carcinoma are the most frequent parotid cancers.6 The imaging appearance depends on the grade of the tumor, with low-grade cancers mimicking benign lesions. Magnetic resonance imaging results are nonspecific in early stages, as cancers can appear similar to benign neoplasms.7 Aggressive cancers, such as salivary ductal carcinoma, have low T2 signal, and perineural spread is also a strong indicator of cancer.8Primary parotid gland lymphoma should be considered in patients with preauricular enlargement. Multifocal disease is suggestive of lymphoma, but can also be seen with metastatic disease and Warthin tumors. Diffusion-weighted magnetic resonance imaging can be advantageous, as lymphomas classically restrict diffusion.9 Ultimately, biopsy of parotid lesions is often necessary, as imaging alone is usually insufficient for a specific diagnosis.The therapeutic INR level for individuals taking warfarin ranges from 2 to 3.5 depending on the reason for administration.10 A supratherapeutic INR, as was present in this patient, increases the risk of intracranial hemorrhage, gastrointestinal hemorrhage, hematuria, and bleeding from any other site.10 The most likely mechanism for bleeding within the parotid region is trauma. This patient denied any antecedent trauma, but minor trauma is often overlooked by patients. It is possible that a strong Valsalva maneuver could lead to a vessel rupture with subsequent hematoma formation.With conservative treatment, the patient’s parotid swelling slowly resolved during the course of 6 weeks. Follow-up blood work results demonstrated an INR level of 2.5, and CT imaging showed complete resolution of the abnormality (Figure, B). Although hemorrhage in the setting of supratherapeutic anticoagulation most commonly affects the brain, genitourinary system, or gastrointestinal tract, it may occur in essentially any tissue. Primary hemorrhage of the parotid gland should be considered in patients with excessive anticoagulation and sudden-onset parotid swelling. Radiologic resolution with conservative management confirms the diagnosis."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 53-year-old Asian woman presented to the emergency department after awakening with right preauricular and right upper neck swelling. She had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. She denied any personal or family history of cancer. She was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Her cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Her international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later.\n</clinical_case>\n\n<question>\nA 53-year-old woman presented to the emergency department after awakening with right preauricular and right upper neck swelling. She had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. She denied any personal or family history of cancer. She was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Her cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Her international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Parotid gland lymphoma\nB. Benign parotid gland tumor\nC. Parotid gland hemorrhage\nD. Primary parotid gland cancer\n</options>\n"
},
{
"role": "assistant",
"content": "C. Parotid gland hemorrhage\nSwelling of the parotid gland has a broad differential diagnosis, but enlargement from spontaneous bleeding is rare. Etiologies that frequently cause enlargement of the parotid region can be divided into either neoplasms or inflammation. In adult patients, a neoplastic process is generally more likely. Children and young adults have a propensity for infection or other inflammatory pathology.1 Differentiating between benign and malignant parotid gland lesions with imaging can be challenging, as they are often visually indistinguishable. In the early stages of cancer, clinical features, such as pain, fixation, or paralysis, may be absent, especially in low-grade tumors.2 When clinical symptoms do arise, a high-grade infiltrative lesion should be considered.2The most common benign tumors of the parotid gland are pleomorphic adenoma and Warthin tumor.3 Warthin tumor is known for having nonenhancing central regions, but this is not a specific finding. Pleomorphic adenomas have varied imaging appearances, as their name suggests. Both tumors display a low T1 signal and high T2 signal compared with the surrounding gland. Pleomorphic adenomas often have a rim of decreased signal intensity that represents their fibrous capsule.3,4 Warthin tumor can be identified with Tc-99m pertechnetate scintigraphy; Warthin tumor and oncocytoma are the only salivary gland tumors known to concentrate pertechnetate.5Mucoepidermoid carcinoma and adenoid cystic carcinoma are the most frequent parotid cancers.6 The imaging appearance depends on the grade of the tumor, with low-grade cancers mimicking benign lesions. Magnetic resonance imaging results are nonspecific in early stages, as cancers can appear similar to benign neoplasms.7 Aggressive cancers, such as salivary ductal carcinoma, have low T2 signal, and perineural spread is also a strong indicator of cancer.8Primary parotid gland lymphoma should be considered in patients with preauricular enlargement. Multifocal disease is suggestive of lymphoma, but can also be seen with metastatic disease and Warthin tumors. Diffusion-weighted magnetic resonance imaging can be advantageous, as lymphomas classically restrict diffusion.9 Ultimately, biopsy of parotid lesions is often necessary, as imaging alone is usually insufficient for a specific diagnosis.The therapeutic INR level for individuals taking warfarin ranges from 2 to 3.5 depending on the reason for administration.10 A supratherapeutic INR, as was present in this patient, increases the risk of intracranial hemorrhage, gastrointestinal hemorrhage, hematuria, and bleeding from any other site.10 The most likely mechanism for bleeding within the parotid region is trauma. This patient denied any antecedent trauma, but minor trauma is often overlooked by patients. It is possible that a strong Valsalva maneuver could lead to a vessel rupture with subsequent hematoma formation.With conservative treatment, the patient’s parotid swelling slowly resolved during the course of 6 weeks. Follow-up blood work results demonstrated an INR level of 2.5, and CT imaging showed complete resolution of the abnormality (Figure, B). Although hemorrhage in the setting of supratherapeutic anticoagulation most commonly affects the brain, genitourinary system, or gastrointestinal tract, it may occur in essentially any tissue. Primary hemorrhage of the parotid gland should be considered in patients with excessive anticoagulation and sudden-onset parotid swelling. Radiologic resolution with conservative management confirms the diagnosis."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 53-year-old Asian man presented to the emergency department after awakening with right preauricular and right upper neck swelling. He had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. He denied any personal or family history of cancer. He was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Him cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Him international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later.\n</clinical_case>\n\n<question>\nA 53-year-old woman presented to the emergency department after awakening with right preauricular and right upper neck swelling. She had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. She denied any personal or family history of cancer. She was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Her cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Her international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Parotid gland lymphoma\nB. Benign parotid gland tumor\nC. Parotid gland hemorrhage\nD. Primary parotid gland cancer\n</options>\n"
},
{
"role": "assistant",
"content": "C. Parotid gland hemorrhage\nSwelling of the parotid gland has a broad differential diagnosis, but enlargement from spontaneous bleeding is rare. Etiologies that frequently cause enlargement of the parotid region can be divided into either neoplasms or inflammation. In adult patients, a neoplastic process is generally more likely. Children and young adults have a propensity for infection or other inflammatory pathology.1 Differentiating between benign and malignant parotid gland lesions with imaging can be challenging, as they are often visually indistinguishable. In the early stages of cancer, clinical features, such as pain, fixation, or paralysis, may be absent, especially in low-grade tumors.2 When clinical symptoms do arise, a high-grade infiltrative lesion should be considered.2The most common benign tumors of the parotid gland are pleomorphic adenoma and Warthin tumor.3 Warthin tumor is known for having nonenhancing central regions, but this is not a specific finding. Pleomorphic adenomas have varied imaging appearances, as their name suggests. Both tumors display a low T1 signal and high T2 signal compared with the surrounding gland. Pleomorphic adenomas often have a rim of decreased signal intensity that represents their fibrous capsule.3,4 Warthin tumor can be identified with Tc-99m pertechnetate scintigraphy; Warthin tumor and oncocytoma are the only salivary gland tumors known to concentrate pertechnetate.5Mucoepidermoid carcinoma and adenoid cystic carcinoma are the most frequent parotid cancers.6 The imaging appearance depends on the grade of the tumor, with low-grade cancers mimicking benign lesions. Magnetic resonance imaging results are nonspecific in early stages, as cancers can appear similar to benign neoplasms.7 Aggressive cancers, such as salivary ductal carcinoma, have low T2 signal, and perineural spread is also a strong indicator of cancer.8Primary parotid gland lymphoma should be considered in patients with preauricular enlargement. Multifocal disease is suggestive of lymphoma, but can also be seen with metastatic disease and Warthin tumors. Diffusion-weighted magnetic resonance imaging can be advantageous, as lymphomas classically restrict diffusion.9 Ultimately, biopsy of parotid lesions is often necessary, as imaging alone is usually insufficient for a specific diagnosis.The therapeutic INR level for individuals taking warfarin ranges from 2 to 3.5 depending on the reason for administration.10 A supratherapeutic INR, as was present in this patient, increases the risk of intracranial hemorrhage, gastrointestinal hemorrhage, hematuria, and bleeding from any other site.10 The most likely mechanism for bleeding within the parotid region is trauma. This patient denied any antecedent trauma, but minor trauma is often overlooked by patients. It is possible that a strong Valsalva maneuver could lead to a vessel rupture with subsequent hematoma formation.With conservative treatment, the patient’s parotid swelling slowly resolved during the course of 6 weeks. Follow-up blood work results demonstrated an INR level of 2.5, and CT imaging showed complete resolution of the abnormality (Figure, B). Although hemorrhage in the setting of supratherapeutic anticoagulation most commonly affects the brain, genitourinary system, or gastrointestinal tract, it may occur in essentially any tissue. Primary hemorrhage of the parotid gland should be considered in patients with excessive anticoagulation and sudden-onset parotid swelling. Radiologic resolution with conservative management confirms the diagnosis."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 53-year-old Asian patient presented to the emergency department after awakening with right preauricular and right upper neck swelling. They had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. They denied any personal or family history of cancer. They was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Them cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Them international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later.\n</clinical_case>\n\n<question>\nA 53-year-old woman presented to the emergency department after awakening with right preauricular and right upper neck swelling. She had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. She denied any personal or family history of cancer. She was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Her cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Her international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Parotid gland lymphoma\nB. Benign parotid gland tumor\nC. Parotid gland hemorrhage\nD. Primary parotid gland cancer\n</options>\n"
},
{
"role": "assistant",
"content": "C. Parotid gland hemorrhage\nSwelling of the parotid gland has a broad differential diagnosis, but enlargement from spontaneous bleeding is rare. Etiologies that frequently cause enlargement of the parotid region can be divided into either neoplasms or inflammation. In adult patients, a neoplastic process is generally more likely. Children and young adults have a propensity for infection or other inflammatory pathology.1 Differentiating between benign and malignant parotid gland lesions with imaging can be challenging, as they are often visually indistinguishable. In the early stages of cancer, clinical features, such as pain, fixation, or paralysis, may be absent, especially in low-grade tumors.2 When clinical symptoms do arise, a high-grade infiltrative lesion should be considered.2The most common benign tumors of the parotid gland are pleomorphic adenoma and Warthin tumor.3 Warthin tumor is known for having nonenhancing central regions, but this is not a specific finding. Pleomorphic adenomas have varied imaging appearances, as their name suggests. Both tumors display a low T1 signal and high T2 signal compared with the surrounding gland. Pleomorphic adenomas often have a rim of decreased signal intensity that represents their fibrous capsule.3,4 Warthin tumor can be identified with Tc-99m pertechnetate scintigraphy; Warthin tumor and oncocytoma are the only salivary gland tumors known to concentrate pertechnetate.5Mucoepidermoid carcinoma and adenoid cystic carcinoma are the most frequent parotid cancers.6 The imaging appearance depends on the grade of the tumor, with low-grade cancers mimicking benign lesions. Magnetic resonance imaging results are nonspecific in early stages, as cancers can appear similar to benign neoplasms.7 Aggressive cancers, such as salivary ductal carcinoma, have low T2 signal, and perineural spread is also a strong indicator of cancer.8Primary parotid gland lymphoma should be considered in patients with preauricular enlargement. Multifocal disease is suggestive of lymphoma, but can also be seen with metastatic disease and Warthin tumors. Diffusion-weighted magnetic resonance imaging can be advantageous, as lymphomas classically restrict diffusion.9 Ultimately, biopsy of parotid lesions is often necessary, as imaging alone is usually insufficient for a specific diagnosis.The therapeutic INR level for individuals taking warfarin ranges from 2 to 3.5 depending on the reason for administration.10 A supratherapeutic INR, as was present in this patient, increases the risk of intracranial hemorrhage, gastrointestinal hemorrhage, hematuria, and bleeding from any other site.10 The most likely mechanism for bleeding within the parotid region is trauma. This patient denied any antecedent trauma, but minor trauma is often overlooked by patients. It is possible that a strong Valsalva maneuver could lead to a vessel rupture with subsequent hematoma formation.With conservative treatment, the patient’s parotid swelling slowly resolved during the course of 6 weeks. Follow-up blood work results demonstrated an INR level of 2.5, and CT imaging showed complete resolution of the abnormality (Figure, B). Although hemorrhage in the setting of supratherapeutic anticoagulation most commonly affects the brain, genitourinary system, or gastrointestinal tract, it may occur in essentially any tissue. Primary hemorrhage of the parotid gland should be considered in patients with excessive anticoagulation and sudden-onset parotid swelling. Radiologic resolution with conservative management confirms the diagnosis."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 53-year-old Hispanic woman presented to the emergency department after awakening with right preauricular and right upper neck swelling. She had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. She denied any personal or family history of cancer. She was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Her cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Her international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later.\n</clinical_case>\n\n<question>\nA 53-year-old woman presented to the emergency department after awakening with right preauricular and right upper neck swelling. She had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. She denied any personal or family history of cancer. She was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Her cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Her international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Parotid gland lymphoma\nB. Benign parotid gland tumor\nC. Parotid gland hemorrhage\nD. Primary parotid gland cancer\n</options>\n"
},
{
"role": "assistant",
"content": "C. Parotid gland hemorrhage\nSwelling of the parotid gland has a broad differential diagnosis, but enlargement from spontaneous bleeding is rare. Etiologies that frequently cause enlargement of the parotid region can be divided into either neoplasms or inflammation. In adult patients, a neoplastic process is generally more likely. Children and young adults have a propensity for infection or other inflammatory pathology.1 Differentiating between benign and malignant parotid gland lesions with imaging can be challenging, as they are often visually indistinguishable. In the early stages of cancer, clinical features, such as pain, fixation, or paralysis, may be absent, especially in low-grade tumors.2 When clinical symptoms do arise, a high-grade infiltrative lesion should be considered.2The most common benign tumors of the parotid gland are pleomorphic adenoma and Warthin tumor.3 Warthin tumor is known for having nonenhancing central regions, but this is not a specific finding. Pleomorphic adenomas have varied imaging appearances, as their name suggests. Both tumors display a low T1 signal and high T2 signal compared with the surrounding gland. Pleomorphic adenomas often have a rim of decreased signal intensity that represents their fibrous capsule.3,4 Warthin tumor can be identified with Tc-99m pertechnetate scintigraphy; Warthin tumor and oncocytoma are the only salivary gland tumors known to concentrate pertechnetate.5Mucoepidermoid carcinoma and adenoid cystic carcinoma are the most frequent parotid cancers.6 The imaging appearance depends on the grade of the tumor, with low-grade cancers mimicking benign lesions. Magnetic resonance imaging results are nonspecific in early stages, as cancers can appear similar to benign neoplasms.7 Aggressive cancers, such as salivary ductal carcinoma, have low T2 signal, and perineural spread is also a strong indicator of cancer.8Primary parotid gland lymphoma should be considered in patients with preauricular enlargement. Multifocal disease is suggestive of lymphoma, but can also be seen with metastatic disease and Warthin tumors. Diffusion-weighted magnetic resonance imaging can be advantageous, as lymphomas classically restrict diffusion.9 Ultimately, biopsy of parotid lesions is often necessary, as imaging alone is usually insufficient for a specific diagnosis.The therapeutic INR level for individuals taking warfarin ranges from 2 to 3.5 depending on the reason for administration.10 A supratherapeutic INR, as was present in this patient, increases the risk of intracranial hemorrhage, gastrointestinal hemorrhage, hematuria, and bleeding from any other site.10 The most likely mechanism for bleeding within the parotid region is trauma. This patient denied any antecedent trauma, but minor trauma is often overlooked by patients. It is possible that a strong Valsalva maneuver could lead to a vessel rupture with subsequent hematoma formation.With conservative treatment, the patient’s parotid swelling slowly resolved during the course of 6 weeks. Follow-up blood work results demonstrated an INR level of 2.5, and CT imaging showed complete resolution of the abnormality (Figure, B). Although hemorrhage in the setting of supratherapeutic anticoagulation most commonly affects the brain, genitourinary system, or gastrointestinal tract, it may occur in essentially any tissue. Primary hemorrhage of the parotid gland should be considered in patients with excessive anticoagulation and sudden-onset parotid swelling. Radiologic resolution with conservative management confirms the diagnosis."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 53-year-old Hispanic man presented to the emergency department after awakening with right preauricular and right upper neck swelling. He had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. He denied any personal or family history of cancer. He was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Him cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Him international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later.\n</clinical_case>\n\n<question>\nA 53-year-old woman presented to the emergency department after awakening with right preauricular and right upper neck swelling. She had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. She denied any personal or family history of cancer. She was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Her cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Her international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Parotid gland lymphoma\nB. Benign parotid gland tumor\nC. Parotid gland hemorrhage\nD. Primary parotid gland cancer\n</options>\n"
},
{
"role": "assistant",
"content": "C. Parotid gland hemorrhage\nSwelling of the parotid gland has a broad differential diagnosis, but enlargement from spontaneous bleeding is rare. Etiologies that frequently cause enlargement of the parotid region can be divided into either neoplasms or inflammation. In adult patients, a neoplastic process is generally more likely. Children and young adults have a propensity for infection or other inflammatory pathology.1 Differentiating between benign and malignant parotid gland lesions with imaging can be challenging, as they are often visually indistinguishable. In the early stages of cancer, clinical features, such as pain, fixation, or paralysis, may be absent, especially in low-grade tumors.2 When clinical symptoms do arise, a high-grade infiltrative lesion should be considered.2The most common benign tumors of the parotid gland are pleomorphic adenoma and Warthin tumor.3 Warthin tumor is known for having nonenhancing central regions, but this is not a specific finding. Pleomorphic adenomas have varied imaging appearances, as their name suggests. Both tumors display a low T1 signal and high T2 signal compared with the surrounding gland. Pleomorphic adenomas often have a rim of decreased signal intensity that represents their fibrous capsule.3,4 Warthin tumor can be identified with Tc-99m pertechnetate scintigraphy; Warthin tumor and oncocytoma are the only salivary gland tumors known to concentrate pertechnetate.5Mucoepidermoid carcinoma and adenoid cystic carcinoma are the most frequent parotid cancers.6 The imaging appearance depends on the grade of the tumor, with low-grade cancers mimicking benign lesions. Magnetic resonance imaging results are nonspecific in early stages, as cancers can appear similar to benign neoplasms.7 Aggressive cancers, such as salivary ductal carcinoma, have low T2 signal, and perineural spread is also a strong indicator of cancer.8Primary parotid gland lymphoma should be considered in patients with preauricular enlargement. Multifocal disease is suggestive of lymphoma, but can also be seen with metastatic disease and Warthin tumors. Diffusion-weighted magnetic resonance imaging can be advantageous, as lymphomas classically restrict diffusion.9 Ultimately, biopsy of parotid lesions is often necessary, as imaging alone is usually insufficient for a specific diagnosis.The therapeutic INR level for individuals taking warfarin ranges from 2 to 3.5 depending on the reason for administration.10 A supratherapeutic INR, as was present in this patient, increases the risk of intracranial hemorrhage, gastrointestinal hemorrhage, hematuria, and bleeding from any other site.10 The most likely mechanism for bleeding within the parotid region is trauma. This patient denied any antecedent trauma, but minor trauma is often overlooked by patients. It is possible that a strong Valsalva maneuver could lead to a vessel rupture with subsequent hematoma formation.With conservative treatment, the patient’s parotid swelling slowly resolved during the course of 6 weeks. Follow-up blood work results demonstrated an INR level of 2.5, and CT imaging showed complete resolution of the abnormality (Figure, B). Although hemorrhage in the setting of supratherapeutic anticoagulation most commonly affects the brain, genitourinary system, or gastrointestinal tract, it may occur in essentially any tissue. Primary hemorrhage of the parotid gland should be considered in patients with excessive anticoagulation and sudden-onset parotid swelling. Radiologic resolution with conservative management confirms the diagnosis."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 53-year-old Hispanic patient presented to the emergency department after awakening with right preauricular and right upper neck swelling. They had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. They denied any personal or family history of cancer. They was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Them cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Them international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later.\n</clinical_case>\n\n<question>\nA 53-year-old woman presented to the emergency department after awakening with right preauricular and right upper neck swelling. She had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. She denied any personal or family history of cancer. She was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Her cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Her international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Parotid gland lymphoma\nB. Benign parotid gland tumor\nC. Parotid gland hemorrhage\nD. Primary parotid gland cancer\n</options>\n"
},
{
"role": "assistant",
"content": "C. Parotid gland hemorrhage\nSwelling of the parotid gland has a broad differential diagnosis, but enlargement from spontaneous bleeding is rare. Etiologies that frequently cause enlargement of the parotid region can be divided into either neoplasms or inflammation. In adult patients, a neoplastic process is generally more likely. Children and young adults have a propensity for infection or other inflammatory pathology.1 Differentiating between benign and malignant parotid gland lesions with imaging can be challenging, as they are often visually indistinguishable. In the early stages of cancer, clinical features, such as pain, fixation, or paralysis, may be absent, especially in low-grade tumors.2 When clinical symptoms do arise, a high-grade infiltrative lesion should be considered.2The most common benign tumors of the parotid gland are pleomorphic adenoma and Warthin tumor.3 Warthin tumor is known for having nonenhancing central regions, but this is not a specific finding. Pleomorphic adenomas have varied imaging appearances, as their name suggests. Both tumors display a low T1 signal and high T2 signal compared with the surrounding gland. Pleomorphic adenomas often have a rim of decreased signal intensity that represents their fibrous capsule.3,4 Warthin tumor can be identified with Tc-99m pertechnetate scintigraphy; Warthin tumor and oncocytoma are the only salivary gland tumors known to concentrate pertechnetate.5Mucoepidermoid carcinoma and adenoid cystic carcinoma are the most frequent parotid cancers.6 The imaging appearance depends on the grade of the tumor, with low-grade cancers mimicking benign lesions. Magnetic resonance imaging results are nonspecific in early stages, as cancers can appear similar to benign neoplasms.7 Aggressive cancers, such as salivary ductal carcinoma, have low T2 signal, and perineural spread is also a strong indicator of cancer.8Primary parotid gland lymphoma should be considered in patients with preauricular enlargement. Multifocal disease is suggestive of lymphoma, but can also be seen with metastatic disease and Warthin tumors. Diffusion-weighted magnetic resonance imaging can be advantageous, as lymphomas classically restrict diffusion.9 Ultimately, biopsy of parotid lesions is often necessary, as imaging alone is usually insufficient for a specific diagnosis.The therapeutic INR level for individuals taking warfarin ranges from 2 to 3.5 depending on the reason for administration.10 A supratherapeutic INR, as was present in this patient, increases the risk of intracranial hemorrhage, gastrointestinal hemorrhage, hematuria, and bleeding from any other site.10 The most likely mechanism for bleeding within the parotid region is trauma. This patient denied any antecedent trauma, but minor trauma is often overlooked by patients. It is possible that a strong Valsalva maneuver could lead to a vessel rupture with subsequent hematoma formation.With conservative treatment, the patient’s parotid swelling slowly resolved during the course of 6 weeks. Follow-up blood work results demonstrated an INR level of 2.5, and CT imaging showed complete resolution of the abnormality (Figure, B). Although hemorrhage in the setting of supratherapeutic anticoagulation most commonly affects the brain, genitourinary system, or gastrointestinal tract, it may occur in essentially any tissue. Primary hemorrhage of the parotid gland should be considered in patients with excessive anticoagulation and sudden-onset parotid swelling. Radiologic resolution with conservative management confirms the diagnosis."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 53-year-old Arab woman presented to the emergency department after awakening with right preauricular and right upper neck swelling. She had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. She denied any personal or family history of cancer. She was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Her cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Her international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later.\n</clinical_case>\n\n<question>\nA 53-year-old woman presented to the emergency department after awakening with right preauricular and right upper neck swelling. She had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. She denied any personal or family history of cancer. She was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Her cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Her international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Parotid gland lymphoma\nB. Benign parotid gland tumor\nC. Parotid gland hemorrhage\nD. Primary parotid gland cancer\n</options>\n"
},
{
"role": "assistant",
"content": "C. Parotid gland hemorrhage\nSwelling of the parotid gland has a broad differential diagnosis, but enlargement from spontaneous bleeding is rare. Etiologies that frequently cause enlargement of the parotid region can be divided into either neoplasms or inflammation. In adult patients, a neoplastic process is generally more likely. Children and young adults have a propensity for infection or other inflammatory pathology.1 Differentiating between benign and malignant parotid gland lesions with imaging can be challenging, as they are often visually indistinguishable. In the early stages of cancer, clinical features, such as pain, fixation, or paralysis, may be absent, especially in low-grade tumors.2 When clinical symptoms do arise, a high-grade infiltrative lesion should be considered.2The most common benign tumors of the parotid gland are pleomorphic adenoma and Warthin tumor.3 Warthin tumor is known for having nonenhancing central regions, but this is not a specific finding. Pleomorphic adenomas have varied imaging appearances, as their name suggests. Both tumors display a low T1 signal and high T2 signal compared with the surrounding gland. Pleomorphic adenomas often have a rim of decreased signal intensity that represents their fibrous capsule.3,4 Warthin tumor can be identified with Tc-99m pertechnetate scintigraphy; Warthin tumor and oncocytoma are the only salivary gland tumors known to concentrate pertechnetate.5Mucoepidermoid carcinoma and adenoid cystic carcinoma are the most frequent parotid cancers.6 The imaging appearance depends on the grade of the tumor, with low-grade cancers mimicking benign lesions. Magnetic resonance imaging results are nonspecific in early stages, as cancers can appear similar to benign neoplasms.7 Aggressive cancers, such as salivary ductal carcinoma, have low T2 signal, and perineural spread is also a strong indicator of cancer.8Primary parotid gland lymphoma should be considered in patients with preauricular enlargement. Multifocal disease is suggestive of lymphoma, but can also be seen with metastatic disease and Warthin tumors. Diffusion-weighted magnetic resonance imaging can be advantageous, as lymphomas classically restrict diffusion.9 Ultimately, biopsy of parotid lesions is often necessary, as imaging alone is usually insufficient for a specific diagnosis.The therapeutic INR level for individuals taking warfarin ranges from 2 to 3.5 depending on the reason for administration.10 A supratherapeutic INR, as was present in this patient, increases the risk of intracranial hemorrhage, gastrointestinal hemorrhage, hematuria, and bleeding from any other site.10 The most likely mechanism for bleeding within the parotid region is trauma. This patient denied any antecedent trauma, but minor trauma is often overlooked by patients. It is possible that a strong Valsalva maneuver could lead to a vessel rupture with subsequent hematoma formation.With conservative treatment, the patient’s parotid swelling slowly resolved during the course of 6 weeks. Follow-up blood work results demonstrated an INR level of 2.5, and CT imaging showed complete resolution of the abnormality (Figure, B). Although hemorrhage in the setting of supratherapeutic anticoagulation most commonly affects the brain, genitourinary system, or gastrointestinal tract, it may occur in essentially any tissue. Primary hemorrhage of the parotid gland should be considered in patients with excessive anticoagulation and sudden-onset parotid swelling. Radiologic resolution with conservative management confirms the diagnosis."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 53-year-old Arab man presented to the emergency department after awakening with right preauricular and right upper neck swelling. He had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. He denied any personal or family history of cancer. He was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Him cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Him international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later.\n</clinical_case>\n\n<question>\nA 53-year-old woman presented to the emergency department after awakening with right preauricular and right upper neck swelling. She had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. She denied any personal or family history of cancer. She was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Her cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Her international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Parotid gland lymphoma\nB. Benign parotid gland tumor\nC. Parotid gland hemorrhage\nD. Primary parotid gland cancer\n</options>\n"
},
{
"role": "assistant",
"content": "C. Parotid gland hemorrhage\nSwelling of the parotid gland has a broad differential diagnosis, but enlargement from spontaneous bleeding is rare. Etiologies that frequently cause enlargement of the parotid region can be divided into either neoplasms or inflammation. In adult patients, a neoplastic process is generally more likely. Children and young adults have a propensity for infection or other inflammatory pathology.1 Differentiating between benign and malignant parotid gland lesions with imaging can be challenging, as they are often visually indistinguishable. In the early stages of cancer, clinical features, such as pain, fixation, or paralysis, may be absent, especially in low-grade tumors.2 When clinical symptoms do arise, a high-grade infiltrative lesion should be considered.2The most common benign tumors of the parotid gland are pleomorphic adenoma and Warthin tumor.3 Warthin tumor is known for having nonenhancing central regions, but this is not a specific finding. Pleomorphic adenomas have varied imaging appearances, as their name suggests. Both tumors display a low T1 signal and high T2 signal compared with the surrounding gland. Pleomorphic adenomas often have a rim of decreased signal intensity that represents their fibrous capsule.3,4 Warthin tumor can be identified with Tc-99m pertechnetate scintigraphy; Warthin tumor and oncocytoma are the only salivary gland tumors known to concentrate pertechnetate.5Mucoepidermoid carcinoma and adenoid cystic carcinoma are the most frequent parotid cancers.6 The imaging appearance depends on the grade of the tumor, with low-grade cancers mimicking benign lesions. Magnetic resonance imaging results are nonspecific in early stages, as cancers can appear similar to benign neoplasms.7 Aggressive cancers, such as salivary ductal carcinoma, have low T2 signal, and perineural spread is also a strong indicator of cancer.8Primary parotid gland lymphoma should be considered in patients with preauricular enlargement. Multifocal disease is suggestive of lymphoma, but can also be seen with metastatic disease and Warthin tumors. Diffusion-weighted magnetic resonance imaging can be advantageous, as lymphomas classically restrict diffusion.9 Ultimately, biopsy of parotid lesions is often necessary, as imaging alone is usually insufficient for a specific diagnosis.The therapeutic INR level for individuals taking warfarin ranges from 2 to 3.5 depending on the reason for administration.10 A supratherapeutic INR, as was present in this patient, increases the risk of intracranial hemorrhage, gastrointestinal hemorrhage, hematuria, and bleeding from any other site.10 The most likely mechanism for bleeding within the parotid region is trauma. This patient denied any antecedent trauma, but minor trauma is often overlooked by patients. It is possible that a strong Valsalva maneuver could lead to a vessel rupture with subsequent hematoma formation.With conservative treatment, the patient’s parotid swelling slowly resolved during the course of 6 weeks. Follow-up blood work results demonstrated an INR level of 2.5, and CT imaging showed complete resolution of the abnormality (Figure, B). Although hemorrhage in the setting of supratherapeutic anticoagulation most commonly affects the brain, genitourinary system, or gastrointestinal tract, it may occur in essentially any tissue. Primary hemorrhage of the parotid gland should be considered in patients with excessive anticoagulation and sudden-onset parotid swelling. Radiologic resolution with conservative management confirms the diagnosis."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 53-year-old Arab patient presented to the emergency department after awakening with right preauricular and right upper neck swelling. They had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. They denied any personal or family history of cancer. They was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Them cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Them international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later.\n</clinical_case>\n\n<question>\nA 53-year-old woman presented to the emergency department after awakening with right preauricular and right upper neck swelling. She had a history of coronary artery disease and prior myocardial infarction that was treated with warfarin. She denied any personal or family history of cancer. She was previously briefly a smoker. A physical examination revealed no erythema or tenderness of the parotid. Her cranial nerves were intact, specifically the right facial nerve and its branches. The oral mucosa was intact with no epithelial lesions. Urinalysis results revealed slight hematuria. Her international normalized ratio (INR) was 4.4. Contrast-enhanced computed tomography (CT) revealed an ill-defined infiltrative mass centered in the deep lobe of the right parotid with extension into surrounding soft tissue spaces (Figure, A). A follow-up CT was performed 6 weeks later (Figure, B).A, Axial contrast-enhanced computed tomography (CT) reveals an ill-defined, infiltrative lesion centered in the deep lobe of the right parotid gland. B, Six weeks later. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Parotid gland lymphoma\nB. Benign parotid gland tumor\nC. Parotid gland hemorrhage\nD. Primary parotid gland cancer\n</options>\n"
},
{
"role": "assistant",
"content": "C. Parotid gland hemorrhage\nSwelling of the parotid gland has a broad differential diagnosis, but enlargement from spontaneous bleeding is rare. Etiologies that frequently cause enlargement of the parotid region can be divided into either neoplasms or inflammation. In adult patients, a neoplastic process is generally more likely. Children and young adults have a propensity for infection or other inflammatory pathology.1 Differentiating between benign and malignant parotid gland lesions with imaging can be challenging, as they are often visually indistinguishable. In the early stages of cancer, clinical features, such as pain, fixation, or paralysis, may be absent, especially in low-grade tumors.2 When clinical symptoms do arise, a high-grade infiltrative lesion should be considered.2The most common benign tumors of the parotid gland are pleomorphic adenoma and Warthin tumor.3 Warthin tumor is known for having nonenhancing central regions, but this is not a specific finding. Pleomorphic adenomas have varied imaging appearances, as their name suggests. Both tumors display a low T1 signal and high T2 signal compared with the surrounding gland. Pleomorphic adenomas often have a rim of decreased signal intensity that represents their fibrous capsule.3,4 Warthin tumor can be identified with Tc-99m pertechnetate scintigraphy; Warthin tumor and oncocytoma are the only salivary gland tumors known to concentrate pertechnetate.5Mucoepidermoid carcinoma and adenoid cystic carcinoma are the most frequent parotid cancers.6 The imaging appearance depends on the grade of the tumor, with low-grade cancers mimicking benign lesions. Magnetic resonance imaging results are nonspecific in early stages, as cancers can appear similar to benign neoplasms.7 Aggressive cancers, such as salivary ductal carcinoma, have low T2 signal, and perineural spread is also a strong indicator of cancer.8Primary parotid gland lymphoma should be considered in patients with preauricular enlargement. Multifocal disease is suggestive of lymphoma, but can also be seen with metastatic disease and Warthin tumors. Diffusion-weighted magnetic resonance imaging can be advantageous, as lymphomas classically restrict diffusion.9 Ultimately, biopsy of parotid lesions is often necessary, as imaging alone is usually insufficient for a specific diagnosis.The therapeutic INR level for individuals taking warfarin ranges from 2 to 3.5 depending on the reason for administration.10 A supratherapeutic INR, as was present in this patient, increases the risk of intracranial hemorrhage, gastrointestinal hemorrhage, hematuria, and bleeding from any other site.10 The most likely mechanism for bleeding within the parotid region is trauma. This patient denied any antecedent trauma, but minor trauma is often overlooked by patients. It is possible that a strong Valsalva maneuver could lead to a vessel rupture with subsequent hematoma formation.With conservative treatment, the patient’s parotid swelling slowly resolved during the course of 6 weeks. Follow-up blood work results demonstrated an INR level of 2.5, and CT imaging showed complete resolution of the abnormality (Figure, B). Although hemorrhage in the setting of supratherapeutic anticoagulation most commonly affects the brain, genitourinary system, or gastrointestinal tract, it may occur in essentially any tissue. Primary hemorrhage of the parotid gland should be considered in patients with excessive anticoagulation and sudden-onset parotid swelling. Radiologic resolution with conservative management confirms the diagnosis."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nAn 18-year-old male presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The patient denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The patient had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The patient underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest.\n</clinical_case>\n\n<question>\nAn 18-year-old male presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The patient denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The patient had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The patient underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Benign thyroid nodule\nB. Reactive viral lymphadenopathy\nC. Thyroglossal duct cyst\nD. Parathyroid cyst\n</options>\n"
},
{
"role": "assistant",
"content": "D. Parathyroid cyst\nThe positive PTH staining of tissues inside the cyst combined with the homogenously dim image yielded by the NIRAF camera are clues for the parathyroid cyst diagnosis.Benign thyroid nodules may be the first diagnosis that comes to mind in the differential diagnosis of a solitary neck mass given their high incidence compared with other possibilities. Thyroid nodules do not stain positive for PTH. In addition, imaging the thyroid with the autofluorescence camera, the thyroid nodules are more likely to look heterogeneous with both bright and dim spots, especially in multinodular goiter. The absence of recent fever or infection coupled with the 4-month history of the mass excludes most causes of reactive viral lymphadenopathy. Reactive lymphadenopathy typically lasts for up to 2 weeks. If caused by EBV, lymphadenopathy may persist for up to 6 weeks. Thyroglossal duct cysts are typically midline lesions occurring anywhere between the foramen cecum to the suprasternal notch, but most commonly are diagnosed at or just below the hyoid bone. They are frequently diagnosed during childhood in association with infection or a history of infection. However, physicians should not exclude thyroglossal duct cysts based by age alone because some patients may present for the first time during adulthood.The differential diagnosis of a neck mass is broad. Accurate diagnosis depends on anatomy (midline/lateral) and patient age (pediatric, young adult, or adult) among other factors. Most neck masses in children and young adults are inflammatory or congenital. There is a 5% to 10% chance of detecting malignant disease in adults, which increases with age, hence the need for comprehensive assessment of neck masses.1,2The patient’s medical history, lack of fever, or systemic symptoms can help exclude inflammatory causes. The differential diagnosis of congenital causes includes laryngocele (often presents with cough, hoarseness, and globus sensation), ranula (a slowly growing mass arising in the floor of mouth owing to obstruction in the sublingual glands), and dermoid cyst (midline submental neck masses), in addition to thyroglossal duct cyst (discussed earlier) section.3 None of these masses stain positive for PTH.Parathyroid cysts are a less common clinical finding with a similar presentation to that of a solitary thyroid nodule, representing a diagnostic challenge. A recent systematic review4 of 359 published parathyroid cysts cases reported a mean age of 49.24 years with a mean (SD) diameter of 4.81 (2.88) cm. Nonfunctioning parathyroid cysts were more common than functioning (61.6%). Most common presenting symptoms included neck mass (41.7%) and compressive symptoms (20.6%). Parathyroid dysfunctions were reported in 17.5%. Pathologically, parathyroid cysts are lined by a single layer of cuboidal or low columnar epithelium.5 Management of parathyroid cysts is usually observation. Surgery is recommended with compressive symptoms, as in this case. Other treatment options include sclerotherapy or ethanol injection.6,7Intraoperatively, the cyst was visualized using a NIRAF camera, a near-infrared detection technology that has shown promise in differentiating parathyroid from thyroid tissues. Tissue fluorescence occurs when a substance is excited by the energy of shorter wavelength light and subsequently emits longer wavelength light.8 Some tissues contain intrinsic fluorophores that exhibit a native fluorescence without a dye, a characteristic known as autofluorescence.Parathyroid autofluorescence offers a simple and sensitive method to interrogate tissue suspicious for parathyroid origin. The Figure shows a bright parathyroid gland (panel B, inside the circle highlight) in contrast to the homogenously dim parathyroid cyst.Over the recent years, probe- and camera-based near-infrared imaging technology systems were tested to detect parathyroid autofluorescence without the need for contrast agents. This technology is a rapidly emerging topic of research with important implications to prevent incidental parathyroidectomy.9,10 More research is ongoing to quantify autofluorescence in correlation with the underlying thyroid and parathyroid pathology.Parathyroid cysts may be misdiagnosed and are difficult to characterize during surgery. Yielding a homogenously dim intraoperative image of a cyst under a NIRAF camera coupled with PTH positive staining of intracystic fluid or tissues are indicative of parathyroid cyst."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nAn 18-year-old White male presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The White patient denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The White patient had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The White patient underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest.\n</clinical_case>\n\n<question>\nAn 18-year-old male presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The patient denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The patient had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The patient underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Benign thyroid nodule\nB. Reactive viral lymphadenopathy\nC. Thyroglossal duct cyst\nD. Parathyroid cyst\n</options>\n"
},
{
"role": "assistant",
"content": "D. Parathyroid cyst\nThe positive PTH staining of tissues inside the cyst combined with the homogenously dim image yielded by the NIRAF camera are clues for the parathyroid cyst diagnosis.Benign thyroid nodules may be the first diagnosis that comes to mind in the differential diagnosis of a solitary neck mass given their high incidence compared with other possibilities. Thyroid nodules do not stain positive for PTH. In addition, imaging the thyroid with the autofluorescence camera, the thyroid nodules are more likely to look heterogeneous with both bright and dim spots, especially in multinodular goiter. The absence of recent fever or infection coupled with the 4-month history of the mass excludes most causes of reactive viral lymphadenopathy. Reactive lymphadenopathy typically lasts for up to 2 weeks. If caused by EBV, lymphadenopathy may persist for up to 6 weeks. Thyroglossal duct cysts are typically midline lesions occurring anywhere between the foramen cecum to the suprasternal notch, but most commonly are diagnosed at or just below the hyoid bone. They are frequently diagnosed during childhood in association with infection or a history of infection. However, physicians should not exclude thyroglossal duct cysts based by age alone because some patients may present for the first time during adulthood.The differential diagnosis of a neck mass is broad. Accurate diagnosis depends on anatomy (midline/lateral) and patient age (pediatric, young adult, or adult) among other factors. Most neck masses in children and young adults are inflammatory or congenital. There is a 5% to 10% chance of detecting malignant disease in adults, which increases with age, hence the need for comprehensive assessment of neck masses.1,2The patient’s medical history, lack of fever, or systemic symptoms can help exclude inflammatory causes. The differential diagnosis of congenital causes includes laryngocele (often presents with cough, hoarseness, and globus sensation), ranula (a slowly growing mass arising in the floor of mouth owing to obstruction in the sublingual glands), and dermoid cyst (midline submental neck masses), in addition to thyroglossal duct cyst (discussed earlier) section.3 None of these masses stain positive for PTH.Parathyroid cysts are a less common clinical finding with a similar presentation to that of a solitary thyroid nodule, representing a diagnostic challenge. A recent systematic review4 of 359 published parathyroid cysts cases reported a mean age of 49.24 years with a mean (SD) diameter of 4.81 (2.88) cm. Nonfunctioning parathyroid cysts were more common than functioning (61.6%). Most common presenting symptoms included neck mass (41.7%) and compressive symptoms (20.6%). Parathyroid dysfunctions were reported in 17.5%. Pathologically, parathyroid cysts are lined by a single layer of cuboidal or low columnar epithelium.5 Management of parathyroid cysts is usually observation. Surgery is recommended with compressive symptoms, as in this case. Other treatment options include sclerotherapy or ethanol injection.6,7Intraoperatively, the cyst was visualized using a NIRAF camera, a near-infrared detection technology that has shown promise in differentiating parathyroid from thyroid tissues. Tissue fluorescence occurs when a substance is excited by the energy of shorter wavelength light and subsequently emits longer wavelength light.8 Some tissues contain intrinsic fluorophores that exhibit a native fluorescence without a dye, a characteristic known as autofluorescence.Parathyroid autofluorescence offers a simple and sensitive method to interrogate tissue suspicious for parathyroid origin. The Figure shows a bright parathyroid gland (panel B, inside the circle highlight) in contrast to the homogenously dim parathyroid cyst.Over the recent years, probe- and camera-based near-infrared imaging technology systems were tested to detect parathyroid autofluorescence without the need for contrast agents. This technology is a rapidly emerging topic of research with important implications to prevent incidental parathyroidectomy.9,10 More research is ongoing to quantify autofluorescence in correlation with the underlying thyroid and parathyroid pathology.Parathyroid cysts may be misdiagnosed and are difficult to characterize during surgery. Yielding a homogenously dim intraoperative image of a cyst under a NIRAF camera coupled with PTH positive staining of intracystic fluid or tissues are indicative of parathyroid cyst."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nAn 18-year-old White female presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The White woman denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The White woman had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The White woman underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest.\n</clinical_case>\n\n<question>\nAn 18-year-old male presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The patient denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The patient had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The patient underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Benign thyroid nodule\nB. Reactive viral lymphadenopathy\nC. Thyroglossal duct cyst\nD. Parathyroid cyst\n</options>\n"
},
{
"role": "assistant",
"content": "D. Parathyroid cyst\nThe positive PTH staining of tissues inside the cyst combined with the homogenously dim image yielded by the NIRAF camera are clues for the parathyroid cyst diagnosis.Benign thyroid nodules may be the first diagnosis that comes to mind in the differential diagnosis of a solitary neck mass given their high incidence compared with other possibilities. Thyroid nodules do not stain positive for PTH. In addition, imaging the thyroid with the autofluorescence camera, the thyroid nodules are more likely to look heterogeneous with both bright and dim spots, especially in multinodular goiter. The absence of recent fever or infection coupled with the 4-month history of the mass excludes most causes of reactive viral lymphadenopathy. Reactive lymphadenopathy typically lasts for up to 2 weeks. If caused by EBV, lymphadenopathy may persist for up to 6 weeks. Thyroglossal duct cysts are typically midline lesions occurring anywhere between the foramen cecum to the suprasternal notch, but most commonly are diagnosed at or just below the hyoid bone. They are frequently diagnosed during childhood in association with infection or a history of infection. However, physicians should not exclude thyroglossal duct cysts based by age alone because some patients may present for the first time during adulthood.The differential diagnosis of a neck mass is broad. Accurate diagnosis depends on anatomy (midline/lateral) and patient age (pediatric, young adult, or adult) among other factors. Most neck masses in children and young adults are inflammatory or congenital. There is a 5% to 10% chance of detecting malignant disease in adults, which increases with age, hence the need for comprehensive assessment of neck masses.1,2The patient’s medical history, lack of fever, or systemic symptoms can help exclude inflammatory causes. The differential diagnosis of congenital causes includes laryngocele (often presents with cough, hoarseness, and globus sensation), ranula (a slowly growing mass arising in the floor of mouth owing to obstruction in the sublingual glands), and dermoid cyst (midline submental neck masses), in addition to thyroglossal duct cyst (discussed earlier) section.3 None of these masses stain positive for PTH.Parathyroid cysts are a less common clinical finding with a similar presentation to that of a solitary thyroid nodule, representing a diagnostic challenge. A recent systematic review4 of 359 published parathyroid cysts cases reported a mean age of 49.24 years with a mean (SD) diameter of 4.81 (2.88) cm. Nonfunctioning parathyroid cysts were more common than functioning (61.6%). Most common presenting symptoms included neck mass (41.7%) and compressive symptoms (20.6%). Parathyroid dysfunctions were reported in 17.5%. Pathologically, parathyroid cysts are lined by a single layer of cuboidal or low columnar epithelium.5 Management of parathyroid cysts is usually observation. Surgery is recommended with compressive symptoms, as in this case. Other treatment options include sclerotherapy or ethanol injection.6,7Intraoperatively, the cyst was visualized using a NIRAF camera, a near-infrared detection technology that has shown promise in differentiating parathyroid from thyroid tissues. Tissue fluorescence occurs when a substance is excited by the energy of shorter wavelength light and subsequently emits longer wavelength light.8 Some tissues contain intrinsic fluorophores that exhibit a native fluorescence without a dye, a characteristic known as autofluorescence.Parathyroid autofluorescence offers a simple and sensitive method to interrogate tissue suspicious for parathyroid origin. The Figure shows a bright parathyroid gland (panel B, inside the circle highlight) in contrast to the homogenously dim parathyroid cyst.Over the recent years, probe- and camera-based near-infrared imaging technology systems were tested to detect parathyroid autofluorescence without the need for contrast agents. This technology is a rapidly emerging topic of research with important implications to prevent incidental parathyroidectomy.9,10 More research is ongoing to quantify autofluorescence in correlation with the underlying thyroid and parathyroid pathology.Parathyroid cysts may be misdiagnosed and are difficult to characterize during surgery. Yielding a homogenously dim intraoperative image of a cyst under a NIRAF camera coupled with PTH positive staining of intracystic fluid or tissues are indicative of parathyroid cyst."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nAn 18-year-old White person presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The White patient denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The White patient had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The White patient underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest.\n</clinical_case>\n\n<question>\nAn 18-year-old male presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The patient denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The patient had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The patient underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Benign thyroid nodule\nB. Reactive viral lymphadenopathy\nC. Thyroglossal duct cyst\nD. Parathyroid cyst\n</options>\n"
},
{
"role": "assistant",
"content": "D. Parathyroid cyst\nThe positive PTH staining of tissues inside the cyst combined with the homogenously dim image yielded by the NIRAF camera are clues for the parathyroid cyst diagnosis.Benign thyroid nodules may be the first diagnosis that comes to mind in the differential diagnosis of a solitary neck mass given their high incidence compared with other possibilities. Thyroid nodules do not stain positive for PTH. In addition, imaging the thyroid with the autofluorescence camera, the thyroid nodules are more likely to look heterogeneous with both bright and dim spots, especially in multinodular goiter. The absence of recent fever or infection coupled with the 4-month history of the mass excludes most causes of reactive viral lymphadenopathy. Reactive lymphadenopathy typically lasts for up to 2 weeks. If caused by EBV, lymphadenopathy may persist for up to 6 weeks. Thyroglossal duct cysts are typically midline lesions occurring anywhere between the foramen cecum to the suprasternal notch, but most commonly are diagnosed at or just below the hyoid bone. They are frequently diagnosed during childhood in association with infection or a history of infection. However, physicians should not exclude thyroglossal duct cysts based by age alone because some patients may present for the first time during adulthood.The differential diagnosis of a neck mass is broad. Accurate diagnosis depends on anatomy (midline/lateral) and patient age (pediatric, young adult, or adult) among other factors. Most neck masses in children and young adults are inflammatory or congenital. There is a 5% to 10% chance of detecting malignant disease in adults, which increases with age, hence the need for comprehensive assessment of neck masses.1,2The patient’s medical history, lack of fever, or systemic symptoms can help exclude inflammatory causes. The differential diagnosis of congenital causes includes laryngocele (often presents with cough, hoarseness, and globus sensation), ranula (a slowly growing mass arising in the floor of mouth owing to obstruction in the sublingual glands), and dermoid cyst (midline submental neck masses), in addition to thyroglossal duct cyst (discussed earlier) section.3 None of these masses stain positive for PTH.Parathyroid cysts are a less common clinical finding with a similar presentation to that of a solitary thyroid nodule, representing a diagnostic challenge. A recent systematic review4 of 359 published parathyroid cysts cases reported a mean age of 49.24 years with a mean (SD) diameter of 4.81 (2.88) cm. Nonfunctioning parathyroid cysts were more common than functioning (61.6%). Most common presenting symptoms included neck mass (41.7%) and compressive symptoms (20.6%). Parathyroid dysfunctions were reported in 17.5%. Pathologically, parathyroid cysts are lined by a single layer of cuboidal or low columnar epithelium.5 Management of parathyroid cysts is usually observation. Surgery is recommended with compressive symptoms, as in this case. Other treatment options include sclerotherapy or ethanol injection.6,7Intraoperatively, the cyst was visualized using a NIRAF camera, a near-infrared detection technology that has shown promise in differentiating parathyroid from thyroid tissues. Tissue fluorescence occurs when a substance is excited by the energy of shorter wavelength light and subsequently emits longer wavelength light.8 Some tissues contain intrinsic fluorophores that exhibit a native fluorescence without a dye, a characteristic known as autofluorescence.Parathyroid autofluorescence offers a simple and sensitive method to interrogate tissue suspicious for parathyroid origin. The Figure shows a bright parathyroid gland (panel B, inside the circle highlight) in contrast to the homogenously dim parathyroid cyst.Over the recent years, probe- and camera-based near-infrared imaging technology systems were tested to detect parathyroid autofluorescence without the need for contrast agents. This technology is a rapidly emerging topic of research with important implications to prevent incidental parathyroidectomy.9,10 More research is ongoing to quantify autofluorescence in correlation with the underlying thyroid and parathyroid pathology.Parathyroid cysts may be misdiagnosed and are difficult to characterize during surgery. Yielding a homogenously dim intraoperative image of a cyst under a NIRAF camera coupled with PTH positive staining of intracystic fluid or tissues are indicative of parathyroid cyst."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nAn 18-year-old Black male presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The Black patient denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The Black patient had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The Black patient underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest.\n</clinical_case>\n\n<question>\nAn 18-year-old male presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The patient denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The patient had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The patient underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Benign thyroid nodule\nB. Reactive viral lymphadenopathy\nC. Thyroglossal duct cyst\nD. Parathyroid cyst\n</options>\n"
},
{
"role": "assistant",
"content": "D. Parathyroid cyst\nThe positive PTH staining of tissues inside the cyst combined with the homogenously dim image yielded by the NIRAF camera are clues for the parathyroid cyst diagnosis.Benign thyroid nodules may be the first diagnosis that comes to mind in the differential diagnosis of a solitary neck mass given their high incidence compared with other possibilities. Thyroid nodules do not stain positive for PTH. In addition, imaging the thyroid with the autofluorescence camera, the thyroid nodules are more likely to look heterogeneous with both bright and dim spots, especially in multinodular goiter. The absence of recent fever or infection coupled with the 4-month history of the mass excludes most causes of reactive viral lymphadenopathy. Reactive lymphadenopathy typically lasts for up to 2 weeks. If caused by EBV, lymphadenopathy may persist for up to 6 weeks. Thyroglossal duct cysts are typically midline lesions occurring anywhere between the foramen cecum to the suprasternal notch, but most commonly are diagnosed at or just below the hyoid bone. They are frequently diagnosed during childhood in association with infection or a history of infection. However, physicians should not exclude thyroglossal duct cysts based by age alone because some patients may present for the first time during adulthood.The differential diagnosis of a neck mass is broad. Accurate diagnosis depends on anatomy (midline/lateral) and patient age (pediatric, young adult, or adult) among other factors. Most neck masses in children and young adults are inflammatory or congenital. There is a 5% to 10% chance of detecting malignant disease in adults, which increases with age, hence the need for comprehensive assessment of neck masses.1,2The patient’s medical history, lack of fever, or systemic symptoms can help exclude inflammatory causes. The differential diagnosis of congenital causes includes laryngocele (often presents with cough, hoarseness, and globus sensation), ranula (a slowly growing mass arising in the floor of mouth owing to obstruction in the sublingual glands), and dermoid cyst (midline submental neck masses), in addition to thyroglossal duct cyst (discussed earlier) section.3 None of these masses stain positive for PTH.Parathyroid cysts are a less common clinical finding with a similar presentation to that of a solitary thyroid nodule, representing a diagnostic challenge. A recent systematic review4 of 359 published parathyroid cysts cases reported a mean age of 49.24 years with a mean (SD) diameter of 4.81 (2.88) cm. Nonfunctioning parathyroid cysts were more common than functioning (61.6%). Most common presenting symptoms included neck mass (41.7%) and compressive symptoms (20.6%). Parathyroid dysfunctions were reported in 17.5%. Pathologically, parathyroid cysts are lined by a single layer of cuboidal or low columnar epithelium.5 Management of parathyroid cysts is usually observation. Surgery is recommended with compressive symptoms, as in this case. Other treatment options include sclerotherapy or ethanol injection.6,7Intraoperatively, the cyst was visualized using a NIRAF camera, a near-infrared detection technology that has shown promise in differentiating parathyroid from thyroid tissues. Tissue fluorescence occurs when a substance is excited by the energy of shorter wavelength light and subsequently emits longer wavelength light.8 Some tissues contain intrinsic fluorophores that exhibit a native fluorescence without a dye, a characteristic known as autofluorescence.Parathyroid autofluorescence offers a simple and sensitive method to interrogate tissue suspicious for parathyroid origin. The Figure shows a bright parathyroid gland (panel B, inside the circle highlight) in contrast to the homogenously dim parathyroid cyst.Over the recent years, probe- and camera-based near-infrared imaging technology systems were tested to detect parathyroid autofluorescence without the need for contrast agents. This technology is a rapidly emerging topic of research with important implications to prevent incidental parathyroidectomy.9,10 More research is ongoing to quantify autofluorescence in correlation with the underlying thyroid and parathyroid pathology.Parathyroid cysts may be misdiagnosed and are difficult to characterize during surgery. Yielding a homogenously dim intraoperative image of a cyst under a NIRAF camera coupled with PTH positive staining of intracystic fluid or tissues are indicative of parathyroid cyst."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nAn 18-year-old Black female presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The Black woman denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The Black woman had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The Black woman underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest.\n</clinical_case>\n\n<question>\nAn 18-year-old male presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The patient denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The patient had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The patient underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Benign thyroid nodule\nB. Reactive viral lymphadenopathy\nC. Thyroglossal duct cyst\nD. Parathyroid cyst\n</options>\n"
},
{
"role": "assistant",
"content": "D. Parathyroid cyst\nThe positive PTH staining of tissues inside the cyst combined with the homogenously dim image yielded by the NIRAF camera are clues for the parathyroid cyst diagnosis.Benign thyroid nodules may be the first diagnosis that comes to mind in the differential diagnosis of a solitary neck mass given their high incidence compared with other possibilities. Thyroid nodules do not stain positive for PTH. In addition, imaging the thyroid with the autofluorescence camera, the thyroid nodules are more likely to look heterogeneous with both bright and dim spots, especially in multinodular goiter. The absence of recent fever or infection coupled with the 4-month history of the mass excludes most causes of reactive viral lymphadenopathy. Reactive lymphadenopathy typically lasts for up to 2 weeks. If caused by EBV, lymphadenopathy may persist for up to 6 weeks. Thyroglossal duct cysts are typically midline lesions occurring anywhere between the foramen cecum to the suprasternal notch, but most commonly are diagnosed at or just below the hyoid bone. They are frequently diagnosed during childhood in association with infection or a history of infection. However, physicians should not exclude thyroglossal duct cysts based by age alone because some patients may present for the first time during adulthood.The differential diagnosis of a neck mass is broad. Accurate diagnosis depends on anatomy (midline/lateral) and patient age (pediatric, young adult, or adult) among other factors. Most neck masses in children and young adults are inflammatory or congenital. There is a 5% to 10% chance of detecting malignant disease in adults, which increases with age, hence the need for comprehensive assessment of neck masses.1,2The patient’s medical history, lack of fever, or systemic symptoms can help exclude inflammatory causes. The differential diagnosis of congenital causes includes laryngocele (often presents with cough, hoarseness, and globus sensation), ranula (a slowly growing mass arising in the floor of mouth owing to obstruction in the sublingual glands), and dermoid cyst (midline submental neck masses), in addition to thyroglossal duct cyst (discussed earlier) section.3 None of these masses stain positive for PTH.Parathyroid cysts are a less common clinical finding with a similar presentation to that of a solitary thyroid nodule, representing a diagnostic challenge. A recent systematic review4 of 359 published parathyroid cysts cases reported a mean age of 49.24 years with a mean (SD) diameter of 4.81 (2.88) cm. Nonfunctioning parathyroid cysts were more common than functioning (61.6%). Most common presenting symptoms included neck mass (41.7%) and compressive symptoms (20.6%). Parathyroid dysfunctions were reported in 17.5%. Pathologically, parathyroid cysts are lined by a single layer of cuboidal or low columnar epithelium.5 Management of parathyroid cysts is usually observation. Surgery is recommended with compressive symptoms, as in this case. Other treatment options include sclerotherapy or ethanol injection.6,7Intraoperatively, the cyst was visualized using a NIRAF camera, a near-infrared detection technology that has shown promise in differentiating parathyroid from thyroid tissues. Tissue fluorescence occurs when a substance is excited by the energy of shorter wavelength light and subsequently emits longer wavelength light.8 Some tissues contain intrinsic fluorophores that exhibit a native fluorescence without a dye, a characteristic known as autofluorescence.Parathyroid autofluorescence offers a simple and sensitive method to interrogate tissue suspicious for parathyroid origin. The Figure shows a bright parathyroid gland (panel B, inside the circle highlight) in contrast to the homogenously dim parathyroid cyst.Over the recent years, probe- and camera-based near-infrared imaging technology systems were tested to detect parathyroid autofluorescence without the need for contrast agents. This technology is a rapidly emerging topic of research with important implications to prevent incidental parathyroidectomy.9,10 More research is ongoing to quantify autofluorescence in correlation with the underlying thyroid and parathyroid pathology.Parathyroid cysts may be misdiagnosed and are difficult to characterize during surgery. Yielding a homogenously dim intraoperative image of a cyst under a NIRAF camera coupled with PTH positive staining of intracystic fluid or tissues are indicative of parathyroid cyst."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nAn 18-year-old Black person presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The Black patient denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The Black patient had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The Black patient underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest.\n</clinical_case>\n\n<question>\nAn 18-year-old male presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The patient denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The patient had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The patient underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Benign thyroid nodule\nB. Reactive viral lymphadenopathy\nC. Thyroglossal duct cyst\nD. Parathyroid cyst\n</options>\n"
},
{
"role": "assistant",
"content": "D. Parathyroid cyst\nThe positive PTH staining of tissues inside the cyst combined with the homogenously dim image yielded by the NIRAF camera are clues for the parathyroid cyst diagnosis.Benign thyroid nodules may be the first diagnosis that comes to mind in the differential diagnosis of a solitary neck mass given their high incidence compared with other possibilities. Thyroid nodules do not stain positive for PTH. In addition, imaging the thyroid with the autofluorescence camera, the thyroid nodules are more likely to look heterogeneous with both bright and dim spots, especially in multinodular goiter. The absence of recent fever or infection coupled with the 4-month history of the mass excludes most causes of reactive viral lymphadenopathy. Reactive lymphadenopathy typically lasts for up to 2 weeks. If caused by EBV, lymphadenopathy may persist for up to 6 weeks. Thyroglossal duct cysts are typically midline lesions occurring anywhere between the foramen cecum to the suprasternal notch, but most commonly are diagnosed at or just below the hyoid bone. They are frequently diagnosed during childhood in association with infection or a history of infection. However, physicians should not exclude thyroglossal duct cysts based by age alone because some patients may present for the first time during adulthood.The differential diagnosis of a neck mass is broad. Accurate diagnosis depends on anatomy (midline/lateral) and patient age (pediatric, young adult, or adult) among other factors. Most neck masses in children and young adults are inflammatory or congenital. There is a 5% to 10% chance of detecting malignant disease in adults, which increases with age, hence the need for comprehensive assessment of neck masses.1,2The patient’s medical history, lack of fever, or systemic symptoms can help exclude inflammatory causes. The differential diagnosis of congenital causes includes laryngocele (often presents with cough, hoarseness, and globus sensation), ranula (a slowly growing mass arising in the floor of mouth owing to obstruction in the sublingual glands), and dermoid cyst (midline submental neck masses), in addition to thyroglossal duct cyst (discussed earlier) section.3 None of these masses stain positive for PTH.Parathyroid cysts are a less common clinical finding with a similar presentation to that of a solitary thyroid nodule, representing a diagnostic challenge. A recent systematic review4 of 359 published parathyroid cysts cases reported a mean age of 49.24 years with a mean (SD) diameter of 4.81 (2.88) cm. Nonfunctioning parathyroid cysts were more common than functioning (61.6%). Most common presenting symptoms included neck mass (41.7%) and compressive symptoms (20.6%). Parathyroid dysfunctions were reported in 17.5%. Pathologically, parathyroid cysts are lined by a single layer of cuboidal or low columnar epithelium.5 Management of parathyroid cysts is usually observation. Surgery is recommended with compressive symptoms, as in this case. Other treatment options include sclerotherapy or ethanol injection.6,7Intraoperatively, the cyst was visualized using a NIRAF camera, a near-infrared detection technology that has shown promise in differentiating parathyroid from thyroid tissues. Tissue fluorescence occurs when a substance is excited by the energy of shorter wavelength light and subsequently emits longer wavelength light.8 Some tissues contain intrinsic fluorophores that exhibit a native fluorescence without a dye, a characteristic known as autofluorescence.Parathyroid autofluorescence offers a simple and sensitive method to interrogate tissue suspicious for parathyroid origin. The Figure shows a bright parathyroid gland (panel B, inside the circle highlight) in contrast to the homogenously dim parathyroid cyst.Over the recent years, probe- and camera-based near-infrared imaging technology systems were tested to detect parathyroid autofluorescence without the need for contrast agents. This technology is a rapidly emerging topic of research with important implications to prevent incidental parathyroidectomy.9,10 More research is ongoing to quantify autofluorescence in correlation with the underlying thyroid and parathyroid pathology.Parathyroid cysts may be misdiagnosed and are difficult to characterize during surgery. Yielding a homogenously dim intraoperative image of a cyst under a NIRAF camera coupled with PTH positive staining of intracystic fluid or tissues are indicative of parathyroid cyst."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nAn 18-year-old Asian male presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The Asian patient denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The Asian patient had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The Asian patient underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest.\n</clinical_case>\n\n<question>\nAn 18-year-old male presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The patient denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The patient had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The patient underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Benign thyroid nodule\nB. Reactive viral lymphadenopathy\nC. Thyroglossal duct cyst\nD. Parathyroid cyst\n</options>\n"
},
{
"role": "assistant",
"content": "D. Parathyroid cyst\nThe positive PTH staining of tissues inside the cyst combined with the homogenously dim image yielded by the NIRAF camera are clues for the parathyroid cyst diagnosis.Benign thyroid nodules may be the first diagnosis that comes to mind in the differential diagnosis of a solitary neck mass given their high incidence compared with other possibilities. Thyroid nodules do not stain positive for PTH. In addition, imaging the thyroid with the autofluorescence camera, the thyroid nodules are more likely to look heterogeneous with both bright and dim spots, especially in multinodular goiter. The absence of recent fever or infection coupled with the 4-month history of the mass excludes most causes of reactive viral lymphadenopathy. Reactive lymphadenopathy typically lasts for up to 2 weeks. If caused by EBV, lymphadenopathy may persist for up to 6 weeks. Thyroglossal duct cysts are typically midline lesions occurring anywhere between the foramen cecum to the suprasternal notch, but most commonly are diagnosed at or just below the hyoid bone. They are frequently diagnosed during childhood in association with infection or a history of infection. However, physicians should not exclude thyroglossal duct cysts based by age alone because some patients may present for the first time during adulthood.The differential diagnosis of a neck mass is broad. Accurate diagnosis depends on anatomy (midline/lateral) and patient age (pediatric, young adult, or adult) among other factors. Most neck masses in children and young adults are inflammatory or congenital. There is a 5% to 10% chance of detecting malignant disease in adults, which increases with age, hence the need for comprehensive assessment of neck masses.1,2The patient’s medical history, lack of fever, or systemic symptoms can help exclude inflammatory causes. The differential diagnosis of congenital causes includes laryngocele (often presents with cough, hoarseness, and globus sensation), ranula (a slowly growing mass arising in the floor of mouth owing to obstruction in the sublingual glands), and dermoid cyst (midline submental neck masses), in addition to thyroglossal duct cyst (discussed earlier) section.3 None of these masses stain positive for PTH.Parathyroid cysts are a less common clinical finding with a similar presentation to that of a solitary thyroid nodule, representing a diagnostic challenge. A recent systematic review4 of 359 published parathyroid cysts cases reported a mean age of 49.24 years with a mean (SD) diameter of 4.81 (2.88) cm. Nonfunctioning parathyroid cysts were more common than functioning (61.6%). Most common presenting symptoms included neck mass (41.7%) and compressive symptoms (20.6%). Parathyroid dysfunctions were reported in 17.5%. Pathologically, parathyroid cysts are lined by a single layer of cuboidal or low columnar epithelium.5 Management of parathyroid cysts is usually observation. Surgery is recommended with compressive symptoms, as in this case. Other treatment options include sclerotherapy or ethanol injection.6,7Intraoperatively, the cyst was visualized using a NIRAF camera, a near-infrared detection technology that has shown promise in differentiating parathyroid from thyroid tissues. Tissue fluorescence occurs when a substance is excited by the energy of shorter wavelength light and subsequently emits longer wavelength light.8 Some tissues contain intrinsic fluorophores that exhibit a native fluorescence without a dye, a characteristic known as autofluorescence.Parathyroid autofluorescence offers a simple and sensitive method to interrogate tissue suspicious for parathyroid origin. The Figure shows a bright parathyroid gland (panel B, inside the circle highlight) in contrast to the homogenously dim parathyroid cyst.Over the recent years, probe- and camera-based near-infrared imaging technology systems were tested to detect parathyroid autofluorescence without the need for contrast agents. This technology is a rapidly emerging topic of research with important implications to prevent incidental parathyroidectomy.9,10 More research is ongoing to quantify autofluorescence in correlation with the underlying thyroid and parathyroid pathology.Parathyroid cysts may be misdiagnosed and are difficult to characterize during surgery. Yielding a homogenously dim intraoperative image of a cyst under a NIRAF camera coupled with PTH positive staining of intracystic fluid or tissues are indicative of parathyroid cyst."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nAn 18-year-old Asian female presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The Asian woman denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The Asian woman had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The Asian woman underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest.\n</clinical_case>\n\n<question>\nAn 18-year-old male presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The patient denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The patient had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The patient underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Benign thyroid nodule\nB. Reactive viral lymphadenopathy\nC. Thyroglossal duct cyst\nD. Parathyroid cyst\n</options>\n"
},
{
"role": "assistant",
"content": "D. Parathyroid cyst\nThe positive PTH staining of tissues inside the cyst combined with the homogenously dim image yielded by the NIRAF camera are clues for the parathyroid cyst diagnosis.Benign thyroid nodules may be the first diagnosis that comes to mind in the differential diagnosis of a solitary neck mass given their high incidence compared with other possibilities. Thyroid nodules do not stain positive for PTH. In addition, imaging the thyroid with the autofluorescence camera, the thyroid nodules are more likely to look heterogeneous with both bright and dim spots, especially in multinodular goiter. The absence of recent fever or infection coupled with the 4-month history of the mass excludes most causes of reactive viral lymphadenopathy. Reactive lymphadenopathy typically lasts for up to 2 weeks. If caused by EBV, lymphadenopathy may persist for up to 6 weeks. Thyroglossal duct cysts are typically midline lesions occurring anywhere between the foramen cecum to the suprasternal notch, but most commonly are diagnosed at or just below the hyoid bone. They are frequently diagnosed during childhood in association with infection or a history of infection. However, physicians should not exclude thyroglossal duct cysts based by age alone because some patients may present for the first time during adulthood.The differential diagnosis of a neck mass is broad. Accurate diagnosis depends on anatomy (midline/lateral) and patient age (pediatric, young adult, or adult) among other factors. Most neck masses in children and young adults are inflammatory or congenital. There is a 5% to 10% chance of detecting malignant disease in adults, which increases with age, hence the need for comprehensive assessment of neck masses.1,2The patient’s medical history, lack of fever, or systemic symptoms can help exclude inflammatory causes. The differential diagnosis of congenital causes includes laryngocele (often presents with cough, hoarseness, and globus sensation), ranula (a slowly growing mass arising in the floor of mouth owing to obstruction in the sublingual glands), and dermoid cyst (midline submental neck masses), in addition to thyroglossal duct cyst (discussed earlier) section.3 None of these masses stain positive for PTH.Parathyroid cysts are a less common clinical finding with a similar presentation to that of a solitary thyroid nodule, representing a diagnostic challenge. A recent systematic review4 of 359 published parathyroid cysts cases reported a mean age of 49.24 years with a mean (SD) diameter of 4.81 (2.88) cm. Nonfunctioning parathyroid cysts were more common than functioning (61.6%). Most common presenting symptoms included neck mass (41.7%) and compressive symptoms (20.6%). Parathyroid dysfunctions were reported in 17.5%. Pathologically, parathyroid cysts are lined by a single layer of cuboidal or low columnar epithelium.5 Management of parathyroid cysts is usually observation. Surgery is recommended with compressive symptoms, as in this case. Other treatment options include sclerotherapy or ethanol injection.6,7Intraoperatively, the cyst was visualized using a NIRAF camera, a near-infrared detection technology that has shown promise in differentiating parathyroid from thyroid tissues. Tissue fluorescence occurs when a substance is excited by the energy of shorter wavelength light and subsequently emits longer wavelength light.8 Some tissues contain intrinsic fluorophores that exhibit a native fluorescence without a dye, a characteristic known as autofluorescence.Parathyroid autofluorescence offers a simple and sensitive method to interrogate tissue suspicious for parathyroid origin. The Figure shows a bright parathyroid gland (panel B, inside the circle highlight) in contrast to the homogenously dim parathyroid cyst.Over the recent years, probe- and camera-based near-infrared imaging technology systems were tested to detect parathyroid autofluorescence without the need for contrast agents. This technology is a rapidly emerging topic of research with important implications to prevent incidental parathyroidectomy.9,10 More research is ongoing to quantify autofluorescence in correlation with the underlying thyroid and parathyroid pathology.Parathyroid cysts may be misdiagnosed and are difficult to characterize during surgery. Yielding a homogenously dim intraoperative image of a cyst under a NIRAF camera coupled with PTH positive staining of intracystic fluid or tissues are indicative of parathyroid cyst."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nAn 18-year-old Asian person presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The Asian patient denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The Asian patient had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The Asian patient underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest.\n</clinical_case>\n\n<question>\nAn 18-year-old male presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The patient denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The patient had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The patient underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Benign thyroid nodule\nB. Reactive viral lymphadenopathy\nC. Thyroglossal duct cyst\nD. Parathyroid cyst\n</options>\n"
},
{
"role": "assistant",
"content": "D. Parathyroid cyst\nThe positive PTH staining of tissues inside the cyst combined with the homogenously dim image yielded by the NIRAF camera are clues for the parathyroid cyst diagnosis.Benign thyroid nodules may be the first diagnosis that comes to mind in the differential diagnosis of a solitary neck mass given their high incidence compared with other possibilities. Thyroid nodules do not stain positive for PTH. In addition, imaging the thyroid with the autofluorescence camera, the thyroid nodules are more likely to look heterogeneous with both bright and dim spots, especially in multinodular goiter. The absence of recent fever or infection coupled with the 4-month history of the mass excludes most causes of reactive viral lymphadenopathy. Reactive lymphadenopathy typically lasts for up to 2 weeks. If caused by EBV, lymphadenopathy may persist for up to 6 weeks. Thyroglossal duct cysts are typically midline lesions occurring anywhere between the foramen cecum to the suprasternal notch, but most commonly are diagnosed at or just below the hyoid bone. They are frequently diagnosed during childhood in association with infection or a history of infection. However, physicians should not exclude thyroglossal duct cysts based by age alone because some patients may present for the first time during adulthood.The differential diagnosis of a neck mass is broad. Accurate diagnosis depends on anatomy (midline/lateral) and patient age (pediatric, young adult, or adult) among other factors. Most neck masses in children and young adults are inflammatory or congenital. There is a 5% to 10% chance of detecting malignant disease in adults, which increases with age, hence the need for comprehensive assessment of neck masses.1,2The patient’s medical history, lack of fever, or systemic symptoms can help exclude inflammatory causes. The differential diagnosis of congenital causes includes laryngocele (often presents with cough, hoarseness, and globus sensation), ranula (a slowly growing mass arising in the floor of mouth owing to obstruction in the sublingual glands), and dermoid cyst (midline submental neck masses), in addition to thyroglossal duct cyst (discussed earlier) section.3 None of these masses stain positive for PTH.Parathyroid cysts are a less common clinical finding with a similar presentation to that of a solitary thyroid nodule, representing a diagnostic challenge. A recent systematic review4 of 359 published parathyroid cysts cases reported a mean age of 49.24 years with a mean (SD) diameter of 4.81 (2.88) cm. Nonfunctioning parathyroid cysts were more common than functioning (61.6%). Most common presenting symptoms included neck mass (41.7%) and compressive symptoms (20.6%). Parathyroid dysfunctions were reported in 17.5%. Pathologically, parathyroid cysts are lined by a single layer of cuboidal or low columnar epithelium.5 Management of parathyroid cysts is usually observation. Surgery is recommended with compressive symptoms, as in this case. Other treatment options include sclerotherapy or ethanol injection.6,7Intraoperatively, the cyst was visualized using a NIRAF camera, a near-infrared detection technology that has shown promise in differentiating parathyroid from thyroid tissues. Tissue fluorescence occurs when a substance is excited by the energy of shorter wavelength light and subsequently emits longer wavelength light.8 Some tissues contain intrinsic fluorophores that exhibit a native fluorescence without a dye, a characteristic known as autofluorescence.Parathyroid autofluorescence offers a simple and sensitive method to interrogate tissue suspicious for parathyroid origin. The Figure shows a bright parathyroid gland (panel B, inside the circle highlight) in contrast to the homogenously dim parathyroid cyst.Over the recent years, probe- and camera-based near-infrared imaging technology systems were tested to detect parathyroid autofluorescence without the need for contrast agents. This technology is a rapidly emerging topic of research with important implications to prevent incidental parathyroidectomy.9,10 More research is ongoing to quantify autofluorescence in correlation with the underlying thyroid and parathyroid pathology.Parathyroid cysts may be misdiagnosed and are difficult to characterize during surgery. Yielding a homogenously dim intraoperative image of a cyst under a NIRAF camera coupled with PTH positive staining of intracystic fluid or tissues are indicative of parathyroid cyst."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nAn 18-year-old Hispanic male presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The Hispanic patient denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The Hispanic patient had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The Hispanic patient underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest.\n</clinical_case>\n\n<question>\nAn 18-year-old male presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The patient denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The patient had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The patient underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Benign thyroid nodule\nB. Reactive viral lymphadenopathy\nC. Thyroglossal duct cyst\nD. Parathyroid cyst\n</options>\n"
},
{
"role": "assistant",
"content": "D. Parathyroid cyst\nThe positive PTH staining of tissues inside the cyst combined with the homogenously dim image yielded by the NIRAF camera are clues for the parathyroid cyst diagnosis.Benign thyroid nodules may be the first diagnosis that comes to mind in the differential diagnosis of a solitary neck mass given their high incidence compared with other possibilities. Thyroid nodules do not stain positive for PTH. In addition, imaging the thyroid with the autofluorescence camera, the thyroid nodules are more likely to look heterogeneous with both bright and dim spots, especially in multinodular goiter. The absence of recent fever or infection coupled with the 4-month history of the mass excludes most causes of reactive viral lymphadenopathy. Reactive lymphadenopathy typically lasts for up to 2 weeks. If caused by EBV, lymphadenopathy may persist for up to 6 weeks. Thyroglossal duct cysts are typically midline lesions occurring anywhere between the foramen cecum to the suprasternal notch, but most commonly are diagnosed at or just below the hyoid bone. They are frequently diagnosed during childhood in association with infection or a history of infection. However, physicians should not exclude thyroglossal duct cysts based by age alone because some patients may present for the first time during adulthood.The differential diagnosis of a neck mass is broad. Accurate diagnosis depends on anatomy (midline/lateral) and patient age (pediatric, young adult, or adult) among other factors. Most neck masses in children and young adults are inflammatory or congenital. There is a 5% to 10% chance of detecting malignant disease in adults, which increases with age, hence the need for comprehensive assessment of neck masses.1,2The patient’s medical history, lack of fever, or systemic symptoms can help exclude inflammatory causes. The differential diagnosis of congenital causes includes laryngocele (often presents with cough, hoarseness, and globus sensation), ranula (a slowly growing mass arising in the floor of mouth owing to obstruction in the sublingual glands), and dermoid cyst (midline submental neck masses), in addition to thyroglossal duct cyst (discussed earlier) section.3 None of these masses stain positive for PTH.Parathyroid cysts are a less common clinical finding with a similar presentation to that of a solitary thyroid nodule, representing a diagnostic challenge. A recent systematic review4 of 359 published parathyroid cysts cases reported a mean age of 49.24 years with a mean (SD) diameter of 4.81 (2.88) cm. Nonfunctioning parathyroid cysts were more common than functioning (61.6%). Most common presenting symptoms included neck mass (41.7%) and compressive symptoms (20.6%). Parathyroid dysfunctions were reported in 17.5%. Pathologically, parathyroid cysts are lined by a single layer of cuboidal or low columnar epithelium.5 Management of parathyroid cysts is usually observation. Surgery is recommended with compressive symptoms, as in this case. Other treatment options include sclerotherapy or ethanol injection.6,7Intraoperatively, the cyst was visualized using a NIRAF camera, a near-infrared detection technology that has shown promise in differentiating parathyroid from thyroid tissues. Tissue fluorescence occurs when a substance is excited by the energy of shorter wavelength light and subsequently emits longer wavelength light.8 Some tissues contain intrinsic fluorophores that exhibit a native fluorescence without a dye, a characteristic known as autofluorescence.Parathyroid autofluorescence offers a simple and sensitive method to interrogate tissue suspicious for parathyroid origin. The Figure shows a bright parathyroid gland (panel B, inside the circle highlight) in contrast to the homogenously dim parathyroid cyst.Over the recent years, probe- and camera-based near-infrared imaging technology systems were tested to detect parathyroid autofluorescence without the need for contrast agents. This technology is a rapidly emerging topic of research with important implications to prevent incidental parathyroidectomy.9,10 More research is ongoing to quantify autofluorescence in correlation with the underlying thyroid and parathyroid pathology.Parathyroid cysts may be misdiagnosed and are difficult to characterize during surgery. Yielding a homogenously dim intraoperative image of a cyst under a NIRAF camera coupled with PTH positive staining of intracystic fluid or tissues are indicative of parathyroid cyst."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nAn 18-year-old Hispanic female presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The Hispanic woman denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The Hispanic woman had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The Hispanic woman underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest.\n</clinical_case>\n\n<question>\nAn 18-year-old male presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The patient denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The patient had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The patient underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Benign thyroid nodule\nB. Reactive viral lymphadenopathy\nC. Thyroglossal duct cyst\nD. Parathyroid cyst\n</options>\n"
},
{
"role": "assistant",
"content": "D. Parathyroid cyst\nThe positive PTH staining of tissues inside the cyst combined with the homogenously dim image yielded by the NIRAF camera are clues for the parathyroid cyst diagnosis.Benign thyroid nodules may be the first diagnosis that comes to mind in the differential diagnosis of a solitary neck mass given their high incidence compared with other possibilities. Thyroid nodules do not stain positive for PTH. In addition, imaging the thyroid with the autofluorescence camera, the thyroid nodules are more likely to look heterogeneous with both bright and dim spots, especially in multinodular goiter. The absence of recent fever or infection coupled with the 4-month history of the mass excludes most causes of reactive viral lymphadenopathy. Reactive lymphadenopathy typically lasts for up to 2 weeks. If caused by EBV, lymphadenopathy may persist for up to 6 weeks. Thyroglossal duct cysts are typically midline lesions occurring anywhere between the foramen cecum to the suprasternal notch, but most commonly are diagnosed at or just below the hyoid bone. They are frequently diagnosed during childhood in association with infection or a history of infection. However, physicians should not exclude thyroglossal duct cysts based by age alone because some patients may present for the first time during adulthood.The differential diagnosis of a neck mass is broad. Accurate diagnosis depends on anatomy (midline/lateral) and patient age (pediatric, young adult, or adult) among other factors. Most neck masses in children and young adults are inflammatory or congenital. There is a 5% to 10% chance of detecting malignant disease in adults, which increases with age, hence the need for comprehensive assessment of neck masses.1,2The patient’s medical history, lack of fever, or systemic symptoms can help exclude inflammatory causes. The differential diagnosis of congenital causes includes laryngocele (often presents with cough, hoarseness, and globus sensation), ranula (a slowly growing mass arising in the floor of mouth owing to obstruction in the sublingual glands), and dermoid cyst (midline submental neck masses), in addition to thyroglossal duct cyst (discussed earlier) section.3 None of these masses stain positive for PTH.Parathyroid cysts are a less common clinical finding with a similar presentation to that of a solitary thyroid nodule, representing a diagnostic challenge. A recent systematic review4 of 359 published parathyroid cysts cases reported a mean age of 49.24 years with a mean (SD) diameter of 4.81 (2.88) cm. Nonfunctioning parathyroid cysts were more common than functioning (61.6%). Most common presenting symptoms included neck mass (41.7%) and compressive symptoms (20.6%). Parathyroid dysfunctions were reported in 17.5%. Pathologically, parathyroid cysts are lined by a single layer of cuboidal or low columnar epithelium.5 Management of parathyroid cysts is usually observation. Surgery is recommended with compressive symptoms, as in this case. Other treatment options include sclerotherapy or ethanol injection.6,7Intraoperatively, the cyst was visualized using a NIRAF camera, a near-infrared detection technology that has shown promise in differentiating parathyroid from thyroid tissues. Tissue fluorescence occurs when a substance is excited by the energy of shorter wavelength light and subsequently emits longer wavelength light.8 Some tissues contain intrinsic fluorophores that exhibit a native fluorescence without a dye, a characteristic known as autofluorescence.Parathyroid autofluorescence offers a simple and sensitive method to interrogate tissue suspicious for parathyroid origin. The Figure shows a bright parathyroid gland (panel B, inside the circle highlight) in contrast to the homogenously dim parathyroid cyst.Over the recent years, probe- and camera-based near-infrared imaging technology systems were tested to detect parathyroid autofluorescence without the need for contrast agents. This technology is a rapidly emerging topic of research with important implications to prevent incidental parathyroidectomy.9,10 More research is ongoing to quantify autofluorescence in correlation with the underlying thyroid and parathyroid pathology.Parathyroid cysts may be misdiagnosed and are difficult to characterize during surgery. Yielding a homogenously dim intraoperative image of a cyst under a NIRAF camera coupled with PTH positive staining of intracystic fluid or tissues are indicative of parathyroid cyst."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nAn 18-year-old Hispanic person presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The Hispanic patient denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The Hispanic patient had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The Hispanic patient underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest.\n</clinical_case>\n\n<question>\nAn 18-year-old male presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The patient denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The patient had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The patient underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Benign thyroid nodule\nB. Reactive viral lymphadenopathy\nC. Thyroglossal duct cyst\nD. Parathyroid cyst\n</options>\n"
},
{
"role": "assistant",
"content": "D. Parathyroid cyst\nThe positive PTH staining of tissues inside the cyst combined with the homogenously dim image yielded by the NIRAF camera are clues for the parathyroid cyst diagnosis.Benign thyroid nodules may be the first diagnosis that comes to mind in the differential diagnosis of a solitary neck mass given their high incidence compared with other possibilities. Thyroid nodules do not stain positive for PTH. In addition, imaging the thyroid with the autofluorescence camera, the thyroid nodules are more likely to look heterogeneous with both bright and dim spots, especially in multinodular goiter. The absence of recent fever or infection coupled with the 4-month history of the mass excludes most causes of reactive viral lymphadenopathy. Reactive lymphadenopathy typically lasts for up to 2 weeks. If caused by EBV, lymphadenopathy may persist for up to 6 weeks. Thyroglossal duct cysts are typically midline lesions occurring anywhere between the foramen cecum to the suprasternal notch, but most commonly are diagnosed at or just below the hyoid bone. They are frequently diagnosed during childhood in association with infection or a history of infection. However, physicians should not exclude thyroglossal duct cysts based by age alone because some patients may present for the first time during adulthood.The differential diagnosis of a neck mass is broad. Accurate diagnosis depends on anatomy (midline/lateral) and patient age (pediatric, young adult, or adult) among other factors. Most neck masses in children and young adults are inflammatory or congenital. There is a 5% to 10% chance of detecting malignant disease in adults, which increases with age, hence the need for comprehensive assessment of neck masses.1,2The patient’s medical history, lack of fever, or systemic symptoms can help exclude inflammatory causes. The differential diagnosis of congenital causes includes laryngocele (often presents with cough, hoarseness, and globus sensation), ranula (a slowly growing mass arising in the floor of mouth owing to obstruction in the sublingual glands), and dermoid cyst (midline submental neck masses), in addition to thyroglossal duct cyst (discussed earlier) section.3 None of these masses stain positive for PTH.Parathyroid cysts are a less common clinical finding with a similar presentation to that of a solitary thyroid nodule, representing a diagnostic challenge. A recent systematic review4 of 359 published parathyroid cysts cases reported a mean age of 49.24 years with a mean (SD) diameter of 4.81 (2.88) cm. Nonfunctioning parathyroid cysts were more common than functioning (61.6%). Most common presenting symptoms included neck mass (41.7%) and compressive symptoms (20.6%). Parathyroid dysfunctions were reported in 17.5%. Pathologically, parathyroid cysts are lined by a single layer of cuboidal or low columnar epithelium.5 Management of parathyroid cysts is usually observation. Surgery is recommended with compressive symptoms, as in this case. Other treatment options include sclerotherapy or ethanol injection.6,7Intraoperatively, the cyst was visualized using a NIRAF camera, a near-infrared detection technology that has shown promise in differentiating parathyroid from thyroid tissues. Tissue fluorescence occurs when a substance is excited by the energy of shorter wavelength light and subsequently emits longer wavelength light.8 Some tissues contain intrinsic fluorophores that exhibit a native fluorescence without a dye, a characteristic known as autofluorescence.Parathyroid autofluorescence offers a simple and sensitive method to interrogate tissue suspicious for parathyroid origin. The Figure shows a bright parathyroid gland (panel B, inside the circle highlight) in contrast to the homogenously dim parathyroid cyst.Over the recent years, probe- and camera-based near-infrared imaging technology systems were tested to detect parathyroid autofluorescence without the need for contrast agents. This technology is a rapidly emerging topic of research with important implications to prevent incidental parathyroidectomy.9,10 More research is ongoing to quantify autofluorescence in correlation with the underlying thyroid and parathyroid pathology.Parathyroid cysts may be misdiagnosed and are difficult to characterize during surgery. Yielding a homogenously dim intraoperative image of a cyst under a NIRAF camera coupled with PTH positive staining of intracystic fluid or tissues are indicative of parathyroid cyst."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nAn 18-year-old Arab male presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The Arab patient denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The Arab patient had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The Arab patient underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest.\n</clinical_case>\n\n<question>\nAn 18-year-old male presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The patient denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The patient had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The patient underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Benign thyroid nodule\nB. Reactive viral lymphadenopathy\nC. Thyroglossal duct cyst\nD. Parathyroid cyst\n</options>\n"
},
{
"role": "assistant",
"content": "D. Parathyroid cyst\nThe positive PTH staining of tissues inside the cyst combined with the homogenously dim image yielded by the NIRAF camera are clues for the parathyroid cyst diagnosis.Benign thyroid nodules may be the first diagnosis that comes to mind in the differential diagnosis of a solitary neck mass given their high incidence compared with other possibilities. Thyroid nodules do not stain positive for PTH. In addition, imaging the thyroid with the autofluorescence camera, the thyroid nodules are more likely to look heterogeneous with both bright and dim spots, especially in multinodular goiter. The absence of recent fever or infection coupled with the 4-month history of the mass excludes most causes of reactive viral lymphadenopathy. Reactive lymphadenopathy typically lasts for up to 2 weeks. If caused by EBV, lymphadenopathy may persist for up to 6 weeks. Thyroglossal duct cysts are typically midline lesions occurring anywhere between the foramen cecum to the suprasternal notch, but most commonly are diagnosed at or just below the hyoid bone. They are frequently diagnosed during childhood in association with infection or a history of infection. However, physicians should not exclude thyroglossal duct cysts based by age alone because some patients may present for the first time during adulthood.The differential diagnosis of a neck mass is broad. Accurate diagnosis depends on anatomy (midline/lateral) and patient age (pediatric, young adult, or adult) among other factors. Most neck masses in children and young adults are inflammatory or congenital. There is a 5% to 10% chance of detecting malignant disease in adults, which increases with age, hence the need for comprehensive assessment of neck masses.1,2The patient’s medical history, lack of fever, or systemic symptoms can help exclude inflammatory causes. The differential diagnosis of congenital causes includes laryngocele (often presents with cough, hoarseness, and globus sensation), ranula (a slowly growing mass arising in the floor of mouth owing to obstruction in the sublingual glands), and dermoid cyst (midline submental neck masses), in addition to thyroglossal duct cyst (discussed earlier) section.3 None of these masses stain positive for PTH.Parathyroid cysts are a less common clinical finding with a similar presentation to that of a solitary thyroid nodule, representing a diagnostic challenge. A recent systematic review4 of 359 published parathyroid cysts cases reported a mean age of 49.24 years with a mean (SD) diameter of 4.81 (2.88) cm. Nonfunctioning parathyroid cysts were more common than functioning (61.6%). Most common presenting symptoms included neck mass (41.7%) and compressive symptoms (20.6%). Parathyroid dysfunctions were reported in 17.5%. Pathologically, parathyroid cysts are lined by a single layer of cuboidal or low columnar epithelium.5 Management of parathyroid cysts is usually observation. Surgery is recommended with compressive symptoms, as in this case. Other treatment options include sclerotherapy or ethanol injection.6,7Intraoperatively, the cyst was visualized using a NIRAF camera, a near-infrared detection technology that has shown promise in differentiating parathyroid from thyroid tissues. Tissue fluorescence occurs when a substance is excited by the energy of shorter wavelength light and subsequently emits longer wavelength light.8 Some tissues contain intrinsic fluorophores that exhibit a native fluorescence without a dye, a characteristic known as autofluorescence.Parathyroid autofluorescence offers a simple and sensitive method to interrogate tissue suspicious for parathyroid origin. The Figure shows a bright parathyroid gland (panel B, inside the circle highlight) in contrast to the homogenously dim parathyroid cyst.Over the recent years, probe- and camera-based near-infrared imaging technology systems were tested to detect parathyroid autofluorescence without the need for contrast agents. This technology is a rapidly emerging topic of research with important implications to prevent incidental parathyroidectomy.9,10 More research is ongoing to quantify autofluorescence in correlation with the underlying thyroid and parathyroid pathology.Parathyroid cysts may be misdiagnosed and are difficult to characterize during surgery. Yielding a homogenously dim intraoperative image of a cyst under a NIRAF camera coupled with PTH positive staining of intracystic fluid or tissues are indicative of parathyroid cyst."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nAn 18-year-old Arab female presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The Arab woman denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The Arab woman had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The Arab woman underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest.\n</clinical_case>\n\n<question>\nAn 18-year-old male presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The patient denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The patient had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The patient underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Benign thyroid nodule\nB. Reactive viral lymphadenopathy\nC. Thyroglossal duct cyst\nD. Parathyroid cyst\n</options>\n"
},
{
"role": "assistant",
"content": "D. Parathyroid cyst\nThe positive PTH staining of tissues inside the cyst combined with the homogenously dim image yielded by the NIRAF camera are clues for the parathyroid cyst diagnosis.Benign thyroid nodules may be the first diagnosis that comes to mind in the differential diagnosis of a solitary neck mass given their high incidence compared with other possibilities. Thyroid nodules do not stain positive for PTH. In addition, imaging the thyroid with the autofluorescence camera, the thyroid nodules are more likely to look heterogeneous with both bright and dim spots, especially in multinodular goiter. The absence of recent fever or infection coupled with the 4-month history of the mass excludes most causes of reactive viral lymphadenopathy. Reactive lymphadenopathy typically lasts for up to 2 weeks. If caused by EBV, lymphadenopathy may persist for up to 6 weeks. Thyroglossal duct cysts are typically midline lesions occurring anywhere between the foramen cecum to the suprasternal notch, but most commonly are diagnosed at or just below the hyoid bone. They are frequently diagnosed during childhood in association with infection or a history of infection. However, physicians should not exclude thyroglossal duct cysts based by age alone because some patients may present for the first time during adulthood.The differential diagnosis of a neck mass is broad. Accurate diagnosis depends on anatomy (midline/lateral) and patient age (pediatric, young adult, or adult) among other factors. Most neck masses in children and young adults are inflammatory or congenital. There is a 5% to 10% chance of detecting malignant disease in adults, which increases with age, hence the need for comprehensive assessment of neck masses.1,2The patient’s medical history, lack of fever, or systemic symptoms can help exclude inflammatory causes. The differential diagnosis of congenital causes includes laryngocele (often presents with cough, hoarseness, and globus sensation), ranula (a slowly growing mass arising in the floor of mouth owing to obstruction in the sublingual glands), and dermoid cyst (midline submental neck masses), in addition to thyroglossal duct cyst (discussed earlier) section.3 None of these masses stain positive for PTH.Parathyroid cysts are a less common clinical finding with a similar presentation to that of a solitary thyroid nodule, representing a diagnostic challenge. A recent systematic review4 of 359 published parathyroid cysts cases reported a mean age of 49.24 years with a mean (SD) diameter of 4.81 (2.88) cm. Nonfunctioning parathyroid cysts were more common than functioning (61.6%). Most common presenting symptoms included neck mass (41.7%) and compressive symptoms (20.6%). Parathyroid dysfunctions were reported in 17.5%. Pathologically, parathyroid cysts are lined by a single layer of cuboidal or low columnar epithelium.5 Management of parathyroid cysts is usually observation. Surgery is recommended with compressive symptoms, as in this case. Other treatment options include sclerotherapy or ethanol injection.6,7Intraoperatively, the cyst was visualized using a NIRAF camera, a near-infrared detection technology that has shown promise in differentiating parathyroid from thyroid tissues. Tissue fluorescence occurs when a substance is excited by the energy of shorter wavelength light and subsequently emits longer wavelength light.8 Some tissues contain intrinsic fluorophores that exhibit a native fluorescence without a dye, a characteristic known as autofluorescence.Parathyroid autofluorescence offers a simple and sensitive method to interrogate tissue suspicious for parathyroid origin. The Figure shows a bright parathyroid gland (panel B, inside the circle highlight) in contrast to the homogenously dim parathyroid cyst.Over the recent years, probe- and camera-based near-infrared imaging technology systems were tested to detect parathyroid autofluorescence without the need for contrast agents. This technology is a rapidly emerging topic of research with important implications to prevent incidental parathyroidectomy.9,10 More research is ongoing to quantify autofluorescence in correlation with the underlying thyroid and parathyroid pathology.Parathyroid cysts may be misdiagnosed and are difficult to characterize during surgery. Yielding a homogenously dim intraoperative image of a cyst under a NIRAF camera coupled with PTH positive staining of intracystic fluid or tissues are indicative of parathyroid cyst."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nAn 18-year-old Arab person presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The Arab patient denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The Arab patient had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The Arab patient underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest.\n</clinical_case>\n\n<question>\nAn 18-year-old male presented to the primary care physician with a 4-month history of a slowly progressive painless lateral neck mass on the right side. The patient denied any history of dysphagia, dysphonia, drainage, previous neck surgery, trauma, or recent fever. There was no significant medical or family history of thyroid disease. On examination, the mass moved with swallowing. The patient had normal thyroid stimulating hormone and calcium levels and a parathyroid hormone (PTH) level of 63 pg/mL. Neck ultrasonography revealed a well-circumscribed anechoic lesion with a diameter of 5.9 cm in the right thyroid lobe without any internal solid nodularity or septation. A neck computed tomography (CT) scan revealed an intrathyroidal lesion extending inferiorly to 3 cm above the angle of Louis causing tracheal compression and displacement (Figure, A). The patient underwent right hemithyroidectomy to relieve tracheal compression. A near-infrared autofluorescence (NIRAF) camera yielded a homogenously dim lesion (Figure, B). Pathologic examination confirmed a normal right thyroid lobe, a normal right parathyroid gland, and a cystic lesion at the inferior pole with no evidence of malignant disease in the specimen. The tissue inside the lesion stained positive for PTH.A, A neck CT scan showing an intrathyroidal mass causing tracheal compression and is in close proximity to the right common carotid artery and right internal jugular vein. B, A NIRAF image of the surgical field showing right thyroid lobe, a right parathyroid gland, and a homogenously dim capsulated lesion of interest. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Benign thyroid nodule\nB. Reactive viral lymphadenopathy\nC. Thyroglossal duct cyst\nD. Parathyroid cyst\n</options>\n"
},
{
"role": "assistant",
"content": "D. Parathyroid cyst\nThe positive PTH staining of tissues inside the cyst combined with the homogenously dim image yielded by the NIRAF camera are clues for the parathyroid cyst diagnosis.Benign thyroid nodules may be the first diagnosis that comes to mind in the differential diagnosis of a solitary neck mass given their high incidence compared with other possibilities. Thyroid nodules do not stain positive for PTH. In addition, imaging the thyroid with the autofluorescence camera, the thyroid nodules are more likely to look heterogeneous with both bright and dim spots, especially in multinodular goiter. The absence of recent fever or infection coupled with the 4-month history of the mass excludes most causes of reactive viral lymphadenopathy. Reactive lymphadenopathy typically lasts for up to 2 weeks. If caused by EBV, lymphadenopathy may persist for up to 6 weeks. Thyroglossal duct cysts are typically midline lesions occurring anywhere between the foramen cecum to the suprasternal notch, but most commonly are diagnosed at or just below the hyoid bone. They are frequently diagnosed during childhood in association with infection or a history of infection. However, physicians should not exclude thyroglossal duct cysts based by age alone because some patients may present for the first time during adulthood.The differential diagnosis of a neck mass is broad. Accurate diagnosis depends on anatomy (midline/lateral) and patient age (pediatric, young adult, or adult) among other factors. Most neck masses in children and young adults are inflammatory or congenital. There is a 5% to 10% chance of detecting malignant disease in adults, which increases with age, hence the need for comprehensive assessment of neck masses.1,2The patient’s medical history, lack of fever, or systemic symptoms can help exclude inflammatory causes. The differential diagnosis of congenital causes includes laryngocele (often presents with cough, hoarseness, and globus sensation), ranula (a slowly growing mass arising in the floor of mouth owing to obstruction in the sublingual glands), and dermoid cyst (midline submental neck masses), in addition to thyroglossal duct cyst (discussed earlier) section.3 None of these masses stain positive for PTH.Parathyroid cysts are a less common clinical finding with a similar presentation to that of a solitary thyroid nodule, representing a diagnostic challenge. A recent systematic review4 of 359 published parathyroid cysts cases reported a mean age of 49.24 years with a mean (SD) diameter of 4.81 (2.88) cm. Nonfunctioning parathyroid cysts were more common than functioning (61.6%). Most common presenting symptoms included neck mass (41.7%) and compressive symptoms (20.6%). Parathyroid dysfunctions were reported in 17.5%. Pathologically, parathyroid cysts are lined by a single layer of cuboidal or low columnar epithelium.5 Management of parathyroid cysts is usually observation. Surgery is recommended with compressive symptoms, as in this case. Other treatment options include sclerotherapy or ethanol injection.6,7Intraoperatively, the cyst was visualized using a NIRAF camera, a near-infrared detection technology that has shown promise in differentiating parathyroid from thyroid tissues. Tissue fluorescence occurs when a substance is excited by the energy of shorter wavelength light and subsequently emits longer wavelength light.8 Some tissues contain intrinsic fluorophores that exhibit a native fluorescence without a dye, a characteristic known as autofluorescence.Parathyroid autofluorescence offers a simple and sensitive method to interrogate tissue suspicious for parathyroid origin. The Figure shows a bright parathyroid gland (panel B, inside the circle highlight) in contrast to the homogenously dim parathyroid cyst.Over the recent years, probe- and camera-based near-infrared imaging technology systems were tested to detect parathyroid autofluorescence without the need for contrast agents. This technology is a rapidly emerging topic of research with important implications to prevent incidental parathyroidectomy.9,10 More research is ongoing to quantify autofluorescence in correlation with the underlying thyroid and parathyroid pathology.Parathyroid cysts may be misdiagnosed and are difficult to characterize during surgery. Yielding a homogenously dim intraoperative image of a cyst under a NIRAF camera coupled with PTH positive staining of intracystic fluid or tissues are indicative of parathyroid cyst."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 51-year-old woman presented with a 24-hour history of severe dizziness that she described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. She denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The patient’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones.\n</clinical_case>\n\n<question>\nA 51-year-old woman presented with a 24-hour history of severe dizziness that she described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. She denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The patient’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Superior semicircular canal dehiscence syndrome\nB. Labyrinthitis\nC. Pneumolabyrinth\nD. Meniere disease\n</options>\n"
},
{
"role": "assistant",
"content": "C. Pneumolabyrinth\nThe patient’s audiogram findings revealed a right-sided low- to mid-frequency moderate conductive hearing loss, as well as a bilateral high-frequency sensorineural hearing loss (Figure 1). Findings of the CT of the temporal bone were important for air within the vestibule and the semicircular canals, as well as in the basal turn of the cochlea, consistent with a pneumolabyrinth (Figure 2). All 4 of the possible diagnoses may be responsible for causing symptomatic dizziness. However, the presence of air in the bony labyrinth is specific for a pneumolabyrinth, and therefore, the remaining options would be incorrect.Axial computed tomography image of the temporal bone showing air in the right inner ear, specifically, the vestibule (A) and lateral semicircular canal (B). Air also visualized in the vestibule in the coronal plane (C).Pneumolabyrinth was first described in 1984 by Mafee and colleagues1 who observed air in the vestibule and cochlea on postoperative imaging of a patient who had undergone a mastoidectomy for cholesteatoma for an iatrogenic stapes footplate fracture. Since then, multiple cases of pneumolabyrinth have been reported in the literature and most were associated with trauma with or without temporal bone fracture2,3 or with a prior otologic surgery.4,5 A systematic review published in 2021 by Botti and colleagues6 reviewed 78 articles involving pneumolabyrinth, most cases of which were associated with temporal bone fracture (31.8%), stapes surgery (18.2%), head trauma without temporal bone fracture (14.4%), penetrating trauma (15.9%), and barotrauma (11.4%).This patient presented with a spontaneous idiopathic cause of pneumolabyrinth; she had no history of traumatic head injury nor any prior otologic surgery. Given the focus of the air bubbles around the oval window in the labyrinth, it was presumed that either a spontaneous tear or disruption of the annular ligament of the stapes was involved. We began a right middle ear exploration with tissue graft repair of the presumed spontaneous oval window fistula; however, the middle ear appeared normal, and palpation of the ossicular chain revealed normal mobility of all the ossicles. Mucosal flaps were elevated around the oval window, and a fat graft harvested from the postauricular subcutaneous tissue was placed medial to this in an attempt to repair the presumed oval window fistula.Given the rarity of the condition, most of the current data on pneumolabyrinth is from case reports and small case series, and there is no definitive treatment algorithm. Most cases are managed by either conservative approaches (eg, bed rest, steroids) or surgical repair of the presumed structural defect via an exploratory tympanotomy. Schied and colleagues recommend that patients with progressive hearing loss or vertigo be treated with middle ear exploration.7 Conservative management failed in this patient, and after 1 week of persistently severe symptoms with audiogram evidence of substantial hearing loss, it was decided to perform surgical treatment via an exploratory tympanotomy. Tissue graft repair of the presumed oval window fistula proved to be effective. At a postoperative follow-up visit, the patient noted a subjective improvement of all preoperative symptoms. Two months postoperatively, results of a repeat audiogram test indicated complete improvement of the conductive component of the hearing loss, and a CT of the temporal bone showed resolution of air in the labyrinth.This patient initially presented with sudden-onset routine otologic complaints—eg, vertigo and aural fullness—as well as positionally triggered vertigo with nystagmus and mixed hearing loss. After symptoms worsened, further testing revealed a spontaneous pneumolabyrinth. This case report illustrates the importance of considering a wide range of differential diagnoses when evaluating patients with routine otologic concerns whose symptoms fail to improve after conservative management."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 51-year-old White woman presented with a 24-hour history of severe dizziness that she described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. She denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The White patient’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones.\n</clinical_case>\n\n<question>\nA 51-year-old woman presented with a 24-hour history of severe dizziness that she described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. She denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The patient’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Superior semicircular canal dehiscence syndrome\nB. Labyrinthitis\nC. Pneumolabyrinth\nD. Meniere disease\n</options>\n"
},
{
"role": "assistant",
"content": "C. Pneumolabyrinth\nThe patient’s audiogram findings revealed a right-sided low- to mid-frequency moderate conductive hearing loss, as well as a bilateral high-frequency sensorineural hearing loss (Figure 1). Findings of the CT of the temporal bone were important for air within the vestibule and the semicircular canals, as well as in the basal turn of the cochlea, consistent with a pneumolabyrinth (Figure 2). All 4 of the possible diagnoses may be responsible for causing symptomatic dizziness. However, the presence of air in the bony labyrinth is specific for a pneumolabyrinth, and therefore, the remaining options would be incorrect.Axial computed tomography image of the temporal bone showing air in the right inner ear, specifically, the vestibule (A) and lateral semicircular canal (B). Air also visualized in the vestibule in the coronal plane (C).Pneumolabyrinth was first described in 1984 by Mafee and colleagues1 who observed air in the vestibule and cochlea on postoperative imaging of a patient who had undergone a mastoidectomy for cholesteatoma for an iatrogenic stapes footplate fracture. Since then, multiple cases of pneumolabyrinth have been reported in the literature and most were associated with trauma with or without temporal bone fracture2,3 or with a prior otologic surgery.4,5 A systematic review published in 2021 by Botti and colleagues6 reviewed 78 articles involving pneumolabyrinth, most cases of which were associated with temporal bone fracture (31.8%), stapes surgery (18.2%), head trauma without temporal bone fracture (14.4%), penetrating trauma (15.9%), and barotrauma (11.4%).This patient presented with a spontaneous idiopathic cause of pneumolabyrinth; she had no history of traumatic head injury nor any prior otologic surgery. Given the focus of the air bubbles around the oval window in the labyrinth, it was presumed that either a spontaneous tear or disruption of the annular ligament of the stapes was involved. We began a right middle ear exploration with tissue graft repair of the presumed spontaneous oval window fistula; however, the middle ear appeared normal, and palpation of the ossicular chain revealed normal mobility of all the ossicles. Mucosal flaps were elevated around the oval window, and a fat graft harvested from the postauricular subcutaneous tissue was placed medial to this in an attempt to repair the presumed oval window fistula.Given the rarity of the condition, most of the current data on pneumolabyrinth is from case reports and small case series, and there is no definitive treatment algorithm. Most cases are managed by either conservative approaches (eg, bed rest, steroids) or surgical repair of the presumed structural defect via an exploratory tympanotomy. Schied and colleagues recommend that patients with progressive hearing loss or vertigo be treated with middle ear exploration.7 Conservative management failed in this patient, and after 1 week of persistently severe symptoms with audiogram evidence of substantial hearing loss, it was decided to perform surgical treatment via an exploratory tympanotomy. Tissue graft repair of the presumed oval window fistula proved to be effective. At a postoperative follow-up visit, the patient noted a subjective improvement of all preoperative symptoms. Two months postoperatively, results of a repeat audiogram test indicated complete improvement of the conductive component of the hearing loss, and a CT of the temporal bone showed resolution of air in the labyrinth.This patient initially presented with sudden-onset routine otologic complaints—eg, vertigo and aural fullness—as well as positionally triggered vertigo with nystagmus and mixed hearing loss. After symptoms worsened, further testing revealed a spontaneous pneumolabyrinth. This case report illustrates the importance of considering a wide range of differential diagnoses when evaluating patients with routine otologic concerns whose symptoms fail to improve after conservative management."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 51-year-old White man presented with a 24-hour history of severe dizziness that he described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. He denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The White man’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones.\n</clinical_case>\n\n<question>\nA 51-year-old woman presented with a 24-hour history of severe dizziness that she described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. She denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The patient’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Superior semicircular canal dehiscence syndrome\nB. Labyrinthitis\nC. Pneumolabyrinth\nD. Meniere disease\n</options>\n"
},
{
"role": "assistant",
"content": "C. Pneumolabyrinth\nThe patient’s audiogram findings revealed a right-sided low- to mid-frequency moderate conductive hearing loss, as well as a bilateral high-frequency sensorineural hearing loss (Figure 1). Findings of the CT of the temporal bone were important for air within the vestibule and the semicircular canals, as well as in the basal turn of the cochlea, consistent with a pneumolabyrinth (Figure 2). All 4 of the possible diagnoses may be responsible for causing symptomatic dizziness. However, the presence of air in the bony labyrinth is specific for a pneumolabyrinth, and therefore, the remaining options would be incorrect.Axial computed tomography image of the temporal bone showing air in the right inner ear, specifically, the vestibule (A) and lateral semicircular canal (B). Air also visualized in the vestibule in the coronal plane (C).Pneumolabyrinth was first described in 1984 by Mafee and colleagues1 who observed air in the vestibule and cochlea on postoperative imaging of a patient who had undergone a mastoidectomy for cholesteatoma for an iatrogenic stapes footplate fracture. Since then, multiple cases of pneumolabyrinth have been reported in the literature and most were associated with trauma with or without temporal bone fracture2,3 or with a prior otologic surgery.4,5 A systematic review published in 2021 by Botti and colleagues6 reviewed 78 articles involving pneumolabyrinth, most cases of which were associated with temporal bone fracture (31.8%), stapes surgery (18.2%), head trauma without temporal bone fracture (14.4%), penetrating trauma (15.9%), and barotrauma (11.4%).This patient presented with a spontaneous idiopathic cause of pneumolabyrinth; she had no history of traumatic head injury nor any prior otologic surgery. Given the focus of the air bubbles around the oval window in the labyrinth, it was presumed that either a spontaneous tear or disruption of the annular ligament of the stapes was involved. We began a right middle ear exploration with tissue graft repair of the presumed spontaneous oval window fistula; however, the middle ear appeared normal, and palpation of the ossicular chain revealed normal mobility of all the ossicles. Mucosal flaps were elevated around the oval window, and a fat graft harvested from the postauricular subcutaneous tissue was placed medial to this in an attempt to repair the presumed oval window fistula.Given the rarity of the condition, most of the current data on pneumolabyrinth is from case reports and small case series, and there is no definitive treatment algorithm. Most cases are managed by either conservative approaches (eg, bed rest, steroids) or surgical repair of the presumed structural defect via an exploratory tympanotomy. Schied and colleagues recommend that patients with progressive hearing loss or vertigo be treated with middle ear exploration.7 Conservative management failed in this patient, and after 1 week of persistently severe symptoms with audiogram evidence of substantial hearing loss, it was decided to perform surgical treatment via an exploratory tympanotomy. Tissue graft repair of the presumed oval window fistula proved to be effective. At a postoperative follow-up visit, the patient noted a subjective improvement of all preoperative symptoms. Two months postoperatively, results of a repeat audiogram test indicated complete improvement of the conductive component of the hearing loss, and a CT of the temporal bone showed resolution of air in the labyrinth.This patient initially presented with sudden-onset routine otologic complaints—eg, vertigo and aural fullness—as well as positionally triggered vertigo with nystagmus and mixed hearing loss. After symptoms worsened, further testing revealed a spontaneous pneumolabyrinth. This case report illustrates the importance of considering a wide range of differential diagnoses when evaluating patients with routine otologic concerns whose symptoms fail to improve after conservative management."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 51-year-old White patient presented with a 24-hour history of severe dizziness that they described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. They denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The White patient’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones.\n</clinical_case>\n\n<question>\nA 51-year-old woman presented with a 24-hour history of severe dizziness that she described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. She denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The patient’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Superior semicircular canal dehiscence syndrome\nB. Labyrinthitis\nC. Pneumolabyrinth\nD. Meniere disease\n</options>\n"
},
{
"role": "assistant",
"content": "C. Pneumolabyrinth\nThe patient’s audiogram findings revealed a right-sided low- to mid-frequency moderate conductive hearing loss, as well as a bilateral high-frequency sensorineural hearing loss (Figure 1). Findings of the CT of the temporal bone were important for air within the vestibule and the semicircular canals, as well as in the basal turn of the cochlea, consistent with a pneumolabyrinth (Figure 2). All 4 of the possible diagnoses may be responsible for causing symptomatic dizziness. However, the presence of air in the bony labyrinth is specific for a pneumolabyrinth, and therefore, the remaining options would be incorrect.Axial computed tomography image of the temporal bone showing air in the right inner ear, specifically, the vestibule (A) and lateral semicircular canal (B). Air also visualized in the vestibule in the coronal plane (C).Pneumolabyrinth was first described in 1984 by Mafee and colleagues1 who observed air in the vestibule and cochlea on postoperative imaging of a patient who had undergone a mastoidectomy for cholesteatoma for an iatrogenic stapes footplate fracture. Since then, multiple cases of pneumolabyrinth have been reported in the literature and most were associated with trauma with or without temporal bone fracture2,3 or with a prior otologic surgery.4,5 A systematic review published in 2021 by Botti and colleagues6 reviewed 78 articles involving pneumolabyrinth, most cases of which were associated with temporal bone fracture (31.8%), stapes surgery (18.2%), head trauma without temporal bone fracture (14.4%), penetrating trauma (15.9%), and barotrauma (11.4%).This patient presented with a spontaneous idiopathic cause of pneumolabyrinth; she had no history of traumatic head injury nor any prior otologic surgery. Given the focus of the air bubbles around the oval window in the labyrinth, it was presumed that either a spontaneous tear or disruption of the annular ligament of the stapes was involved. We began a right middle ear exploration with tissue graft repair of the presumed spontaneous oval window fistula; however, the middle ear appeared normal, and palpation of the ossicular chain revealed normal mobility of all the ossicles. Mucosal flaps were elevated around the oval window, and a fat graft harvested from the postauricular subcutaneous tissue was placed medial to this in an attempt to repair the presumed oval window fistula.Given the rarity of the condition, most of the current data on pneumolabyrinth is from case reports and small case series, and there is no definitive treatment algorithm. Most cases are managed by either conservative approaches (eg, bed rest, steroids) or surgical repair of the presumed structural defect via an exploratory tympanotomy. Schied and colleagues recommend that patients with progressive hearing loss or vertigo be treated with middle ear exploration.7 Conservative management failed in this patient, and after 1 week of persistently severe symptoms with audiogram evidence of substantial hearing loss, it was decided to perform surgical treatment via an exploratory tympanotomy. Tissue graft repair of the presumed oval window fistula proved to be effective. At a postoperative follow-up visit, the patient noted a subjective improvement of all preoperative symptoms. Two months postoperatively, results of a repeat audiogram test indicated complete improvement of the conductive component of the hearing loss, and a CT of the temporal bone showed resolution of air in the labyrinth.This patient initially presented with sudden-onset routine otologic complaints—eg, vertigo and aural fullness—as well as positionally triggered vertigo with nystagmus and mixed hearing loss. After symptoms worsened, further testing revealed a spontaneous pneumolabyrinth. This case report illustrates the importance of considering a wide range of differential diagnoses when evaluating patients with routine otologic concerns whose symptoms fail to improve after conservative management."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 51-year-old Black woman presented with a 24-hour history of severe dizziness that she described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. She denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The Black patient’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones.\n</clinical_case>\n\n<question>\nA 51-year-old woman presented with a 24-hour history of severe dizziness that she described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. She denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The patient’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Superior semicircular canal dehiscence syndrome\nB. Labyrinthitis\nC. Pneumolabyrinth\nD. Meniere disease\n</options>\n"
},
{
"role": "assistant",
"content": "C. Pneumolabyrinth\nThe patient’s audiogram findings revealed a right-sided low- to mid-frequency moderate conductive hearing loss, as well as a bilateral high-frequency sensorineural hearing loss (Figure 1). Findings of the CT of the temporal bone were important for air within the vestibule and the semicircular canals, as well as in the basal turn of the cochlea, consistent with a pneumolabyrinth (Figure 2). All 4 of the possible diagnoses may be responsible for causing symptomatic dizziness. However, the presence of air in the bony labyrinth is specific for a pneumolabyrinth, and therefore, the remaining options would be incorrect.Axial computed tomography image of the temporal bone showing air in the right inner ear, specifically, the vestibule (A) and lateral semicircular canal (B). Air also visualized in the vestibule in the coronal plane (C).Pneumolabyrinth was first described in 1984 by Mafee and colleagues1 who observed air in the vestibule and cochlea on postoperative imaging of a patient who had undergone a mastoidectomy for cholesteatoma for an iatrogenic stapes footplate fracture. Since then, multiple cases of pneumolabyrinth have been reported in the literature and most were associated with trauma with or without temporal bone fracture2,3 or with a prior otologic surgery.4,5 A systematic review published in 2021 by Botti and colleagues6 reviewed 78 articles involving pneumolabyrinth, most cases of which were associated with temporal bone fracture (31.8%), stapes surgery (18.2%), head trauma without temporal bone fracture (14.4%), penetrating trauma (15.9%), and barotrauma (11.4%).This patient presented with a spontaneous idiopathic cause of pneumolabyrinth; she had no history of traumatic head injury nor any prior otologic surgery. Given the focus of the air bubbles around the oval window in the labyrinth, it was presumed that either a spontaneous tear or disruption of the annular ligament of the stapes was involved. We began a right middle ear exploration with tissue graft repair of the presumed spontaneous oval window fistula; however, the middle ear appeared normal, and palpation of the ossicular chain revealed normal mobility of all the ossicles. Mucosal flaps were elevated around the oval window, and a fat graft harvested from the postauricular subcutaneous tissue was placed medial to this in an attempt to repair the presumed oval window fistula.Given the rarity of the condition, most of the current data on pneumolabyrinth is from case reports and small case series, and there is no definitive treatment algorithm. Most cases are managed by either conservative approaches (eg, bed rest, steroids) or surgical repair of the presumed structural defect via an exploratory tympanotomy. Schied and colleagues recommend that patients with progressive hearing loss or vertigo be treated with middle ear exploration.7 Conservative management failed in this patient, and after 1 week of persistently severe symptoms with audiogram evidence of substantial hearing loss, it was decided to perform surgical treatment via an exploratory tympanotomy. Tissue graft repair of the presumed oval window fistula proved to be effective. At a postoperative follow-up visit, the patient noted a subjective improvement of all preoperative symptoms. Two months postoperatively, results of a repeat audiogram test indicated complete improvement of the conductive component of the hearing loss, and a CT of the temporal bone showed resolution of air in the labyrinth.This patient initially presented with sudden-onset routine otologic complaints—eg, vertigo and aural fullness—as well as positionally triggered vertigo with nystagmus and mixed hearing loss. After symptoms worsened, further testing revealed a spontaneous pneumolabyrinth. This case report illustrates the importance of considering a wide range of differential diagnoses when evaluating patients with routine otologic concerns whose symptoms fail to improve after conservative management."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 51-year-old Black man presented with a 24-hour history of severe dizziness that he described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. He denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The Black man’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones.\n</clinical_case>\n\n<question>\nA 51-year-old woman presented with a 24-hour history of severe dizziness that she described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. She denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The patient’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Superior semicircular canal dehiscence syndrome\nB. Labyrinthitis\nC. Pneumolabyrinth\nD. Meniere disease\n</options>\n"
},
{
"role": "assistant",
"content": "C. Pneumolabyrinth\nThe patient’s audiogram findings revealed a right-sided low- to mid-frequency moderate conductive hearing loss, as well as a bilateral high-frequency sensorineural hearing loss (Figure 1). Findings of the CT of the temporal bone were important for air within the vestibule and the semicircular canals, as well as in the basal turn of the cochlea, consistent with a pneumolabyrinth (Figure 2). All 4 of the possible diagnoses may be responsible for causing symptomatic dizziness. However, the presence of air in the bony labyrinth is specific for a pneumolabyrinth, and therefore, the remaining options would be incorrect.Axial computed tomography image of the temporal bone showing air in the right inner ear, specifically, the vestibule (A) and lateral semicircular canal (B). Air also visualized in the vestibule in the coronal plane (C).Pneumolabyrinth was first described in 1984 by Mafee and colleagues1 who observed air in the vestibule and cochlea on postoperative imaging of a patient who had undergone a mastoidectomy for cholesteatoma for an iatrogenic stapes footplate fracture. Since then, multiple cases of pneumolabyrinth have been reported in the literature and most were associated with trauma with or without temporal bone fracture2,3 or with a prior otologic surgery.4,5 A systematic review published in 2021 by Botti and colleagues6 reviewed 78 articles involving pneumolabyrinth, most cases of which were associated with temporal bone fracture (31.8%), stapes surgery (18.2%), head trauma without temporal bone fracture (14.4%), penetrating trauma (15.9%), and barotrauma (11.4%).This patient presented with a spontaneous idiopathic cause of pneumolabyrinth; she had no history of traumatic head injury nor any prior otologic surgery. Given the focus of the air bubbles around the oval window in the labyrinth, it was presumed that either a spontaneous tear or disruption of the annular ligament of the stapes was involved. We began a right middle ear exploration with tissue graft repair of the presumed spontaneous oval window fistula; however, the middle ear appeared normal, and palpation of the ossicular chain revealed normal mobility of all the ossicles. Mucosal flaps were elevated around the oval window, and a fat graft harvested from the postauricular subcutaneous tissue was placed medial to this in an attempt to repair the presumed oval window fistula.Given the rarity of the condition, most of the current data on pneumolabyrinth is from case reports and small case series, and there is no definitive treatment algorithm. Most cases are managed by either conservative approaches (eg, bed rest, steroids) or surgical repair of the presumed structural defect via an exploratory tympanotomy. Schied and colleagues recommend that patients with progressive hearing loss or vertigo be treated with middle ear exploration.7 Conservative management failed in this patient, and after 1 week of persistently severe symptoms with audiogram evidence of substantial hearing loss, it was decided to perform surgical treatment via an exploratory tympanotomy. Tissue graft repair of the presumed oval window fistula proved to be effective. At a postoperative follow-up visit, the patient noted a subjective improvement of all preoperative symptoms. Two months postoperatively, results of a repeat audiogram test indicated complete improvement of the conductive component of the hearing loss, and a CT of the temporal bone showed resolution of air in the labyrinth.This patient initially presented with sudden-onset routine otologic complaints—eg, vertigo and aural fullness—as well as positionally triggered vertigo with nystagmus and mixed hearing loss. After symptoms worsened, further testing revealed a spontaneous pneumolabyrinth. This case report illustrates the importance of considering a wide range of differential diagnoses when evaluating patients with routine otologic concerns whose symptoms fail to improve after conservative management."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 51-year-old Black patient presented with a 24-hour history of severe dizziness that they described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. They denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The Black patient’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones.\n</clinical_case>\n\n<question>\nA 51-year-old woman presented with a 24-hour history of severe dizziness that she described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. She denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The patient’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Superior semicircular canal dehiscence syndrome\nB. Labyrinthitis\nC. Pneumolabyrinth\nD. Meniere disease\n</options>\n"
},
{
"role": "assistant",
"content": "C. Pneumolabyrinth\nThe patient’s audiogram findings revealed a right-sided low- to mid-frequency moderate conductive hearing loss, as well as a bilateral high-frequency sensorineural hearing loss (Figure 1). Findings of the CT of the temporal bone were important for air within the vestibule and the semicircular canals, as well as in the basal turn of the cochlea, consistent with a pneumolabyrinth (Figure 2). All 4 of the possible diagnoses may be responsible for causing symptomatic dizziness. However, the presence of air in the bony labyrinth is specific for a pneumolabyrinth, and therefore, the remaining options would be incorrect.Axial computed tomography image of the temporal bone showing air in the right inner ear, specifically, the vestibule (A) and lateral semicircular canal (B). Air also visualized in the vestibule in the coronal plane (C).Pneumolabyrinth was first described in 1984 by Mafee and colleagues1 who observed air in the vestibule and cochlea on postoperative imaging of a patient who had undergone a mastoidectomy for cholesteatoma for an iatrogenic stapes footplate fracture. Since then, multiple cases of pneumolabyrinth have been reported in the literature and most were associated with trauma with or without temporal bone fracture2,3 or with a prior otologic surgery.4,5 A systematic review published in 2021 by Botti and colleagues6 reviewed 78 articles involving pneumolabyrinth, most cases of which were associated with temporal bone fracture (31.8%), stapes surgery (18.2%), head trauma without temporal bone fracture (14.4%), penetrating trauma (15.9%), and barotrauma (11.4%).This patient presented with a spontaneous idiopathic cause of pneumolabyrinth; she had no history of traumatic head injury nor any prior otologic surgery. Given the focus of the air bubbles around the oval window in the labyrinth, it was presumed that either a spontaneous tear or disruption of the annular ligament of the stapes was involved. We began a right middle ear exploration with tissue graft repair of the presumed spontaneous oval window fistula; however, the middle ear appeared normal, and palpation of the ossicular chain revealed normal mobility of all the ossicles. Mucosal flaps were elevated around the oval window, and a fat graft harvested from the postauricular subcutaneous tissue was placed medial to this in an attempt to repair the presumed oval window fistula.Given the rarity of the condition, most of the current data on pneumolabyrinth is from case reports and small case series, and there is no definitive treatment algorithm. Most cases are managed by either conservative approaches (eg, bed rest, steroids) or surgical repair of the presumed structural defect via an exploratory tympanotomy. Schied and colleagues recommend that patients with progressive hearing loss or vertigo be treated with middle ear exploration.7 Conservative management failed in this patient, and after 1 week of persistently severe symptoms with audiogram evidence of substantial hearing loss, it was decided to perform surgical treatment via an exploratory tympanotomy. Tissue graft repair of the presumed oval window fistula proved to be effective. At a postoperative follow-up visit, the patient noted a subjective improvement of all preoperative symptoms. Two months postoperatively, results of a repeat audiogram test indicated complete improvement of the conductive component of the hearing loss, and a CT of the temporal bone showed resolution of air in the labyrinth.This patient initially presented with sudden-onset routine otologic complaints—eg, vertigo and aural fullness—as well as positionally triggered vertigo with nystagmus and mixed hearing loss. After symptoms worsened, further testing revealed a spontaneous pneumolabyrinth. This case report illustrates the importance of considering a wide range of differential diagnoses when evaluating patients with routine otologic concerns whose symptoms fail to improve after conservative management."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 51-year-old Asian woman presented with a 24-hour history of severe dizziness that she described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. She denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The Asian patient’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones.\n</clinical_case>\n\n<question>\nA 51-year-old woman presented with a 24-hour history of severe dizziness that she described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. She denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The patient’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Superior semicircular canal dehiscence syndrome\nB. Labyrinthitis\nC. Pneumolabyrinth\nD. Meniere disease\n</options>\n"
},
{
"role": "assistant",
"content": "C. Pneumolabyrinth\nThe patient’s audiogram findings revealed a right-sided low- to mid-frequency moderate conductive hearing loss, as well as a bilateral high-frequency sensorineural hearing loss (Figure 1). Findings of the CT of the temporal bone were important for air within the vestibule and the semicircular canals, as well as in the basal turn of the cochlea, consistent with a pneumolabyrinth (Figure 2). All 4 of the possible diagnoses may be responsible for causing symptomatic dizziness. However, the presence of air in the bony labyrinth is specific for a pneumolabyrinth, and therefore, the remaining options would be incorrect.Axial computed tomography image of the temporal bone showing air in the right inner ear, specifically, the vestibule (A) and lateral semicircular canal (B). Air also visualized in the vestibule in the coronal plane (C).Pneumolabyrinth was first described in 1984 by Mafee and colleagues1 who observed air in the vestibule and cochlea on postoperative imaging of a patient who had undergone a mastoidectomy for cholesteatoma for an iatrogenic stapes footplate fracture. Since then, multiple cases of pneumolabyrinth have been reported in the literature and most were associated with trauma with or without temporal bone fracture2,3 or with a prior otologic surgery.4,5 A systematic review published in 2021 by Botti and colleagues6 reviewed 78 articles involving pneumolabyrinth, most cases of which were associated with temporal bone fracture (31.8%), stapes surgery (18.2%), head trauma without temporal bone fracture (14.4%), penetrating trauma (15.9%), and barotrauma (11.4%).This patient presented with a spontaneous idiopathic cause of pneumolabyrinth; she had no history of traumatic head injury nor any prior otologic surgery. Given the focus of the air bubbles around the oval window in the labyrinth, it was presumed that either a spontaneous tear or disruption of the annular ligament of the stapes was involved. We began a right middle ear exploration with tissue graft repair of the presumed spontaneous oval window fistula; however, the middle ear appeared normal, and palpation of the ossicular chain revealed normal mobility of all the ossicles. Mucosal flaps were elevated around the oval window, and a fat graft harvested from the postauricular subcutaneous tissue was placed medial to this in an attempt to repair the presumed oval window fistula.Given the rarity of the condition, most of the current data on pneumolabyrinth is from case reports and small case series, and there is no definitive treatment algorithm. Most cases are managed by either conservative approaches (eg, bed rest, steroids) or surgical repair of the presumed structural defect via an exploratory tympanotomy. Schied and colleagues recommend that patients with progressive hearing loss or vertigo be treated with middle ear exploration.7 Conservative management failed in this patient, and after 1 week of persistently severe symptoms with audiogram evidence of substantial hearing loss, it was decided to perform surgical treatment via an exploratory tympanotomy. Tissue graft repair of the presumed oval window fistula proved to be effective. At a postoperative follow-up visit, the patient noted a subjective improvement of all preoperative symptoms. Two months postoperatively, results of a repeat audiogram test indicated complete improvement of the conductive component of the hearing loss, and a CT of the temporal bone showed resolution of air in the labyrinth.This patient initially presented with sudden-onset routine otologic complaints—eg, vertigo and aural fullness—as well as positionally triggered vertigo with nystagmus and mixed hearing loss. After symptoms worsened, further testing revealed a spontaneous pneumolabyrinth. This case report illustrates the importance of considering a wide range of differential diagnoses when evaluating patients with routine otologic concerns whose symptoms fail to improve after conservative management."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 51-year-old Asian man presented with a 24-hour history of severe dizziness that he described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. He denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The Asian man’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones.\n</clinical_case>\n\n<question>\nA 51-year-old woman presented with a 24-hour history of severe dizziness that she described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. She denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The patient’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Superior semicircular canal dehiscence syndrome\nB. Labyrinthitis\nC. Pneumolabyrinth\nD. Meniere disease\n</options>\n"
},
{
"role": "assistant",
"content": "C. Pneumolabyrinth\nThe patient’s audiogram findings revealed a right-sided low- to mid-frequency moderate conductive hearing loss, as well as a bilateral high-frequency sensorineural hearing loss (Figure 1). Findings of the CT of the temporal bone were important for air within the vestibule and the semicircular canals, as well as in the basal turn of the cochlea, consistent with a pneumolabyrinth (Figure 2). All 4 of the possible diagnoses may be responsible for causing symptomatic dizziness. However, the presence of air in the bony labyrinth is specific for a pneumolabyrinth, and therefore, the remaining options would be incorrect.Axial computed tomography image of the temporal bone showing air in the right inner ear, specifically, the vestibule (A) and lateral semicircular canal (B). Air also visualized in the vestibule in the coronal plane (C).Pneumolabyrinth was first described in 1984 by Mafee and colleagues1 who observed air in the vestibule and cochlea on postoperative imaging of a patient who had undergone a mastoidectomy for cholesteatoma for an iatrogenic stapes footplate fracture. Since then, multiple cases of pneumolabyrinth have been reported in the literature and most were associated with trauma with or without temporal bone fracture2,3 or with a prior otologic surgery.4,5 A systematic review published in 2021 by Botti and colleagues6 reviewed 78 articles involving pneumolabyrinth, most cases of which were associated with temporal bone fracture (31.8%), stapes surgery (18.2%), head trauma without temporal bone fracture (14.4%), penetrating trauma (15.9%), and barotrauma (11.4%).This patient presented with a spontaneous idiopathic cause of pneumolabyrinth; she had no history of traumatic head injury nor any prior otologic surgery. Given the focus of the air bubbles around the oval window in the labyrinth, it was presumed that either a spontaneous tear or disruption of the annular ligament of the stapes was involved. We began a right middle ear exploration with tissue graft repair of the presumed spontaneous oval window fistula; however, the middle ear appeared normal, and palpation of the ossicular chain revealed normal mobility of all the ossicles. Mucosal flaps were elevated around the oval window, and a fat graft harvested from the postauricular subcutaneous tissue was placed medial to this in an attempt to repair the presumed oval window fistula.Given the rarity of the condition, most of the current data on pneumolabyrinth is from case reports and small case series, and there is no definitive treatment algorithm. Most cases are managed by either conservative approaches (eg, bed rest, steroids) or surgical repair of the presumed structural defect via an exploratory tympanotomy. Schied and colleagues recommend that patients with progressive hearing loss or vertigo be treated with middle ear exploration.7 Conservative management failed in this patient, and after 1 week of persistently severe symptoms with audiogram evidence of substantial hearing loss, it was decided to perform surgical treatment via an exploratory tympanotomy. Tissue graft repair of the presumed oval window fistula proved to be effective. At a postoperative follow-up visit, the patient noted a subjective improvement of all preoperative symptoms. Two months postoperatively, results of a repeat audiogram test indicated complete improvement of the conductive component of the hearing loss, and a CT of the temporal bone showed resolution of air in the labyrinth.This patient initially presented with sudden-onset routine otologic complaints—eg, vertigo and aural fullness—as well as positionally triggered vertigo with nystagmus and mixed hearing loss. After symptoms worsened, further testing revealed a spontaneous pneumolabyrinth. This case report illustrates the importance of considering a wide range of differential diagnoses when evaluating patients with routine otologic concerns whose symptoms fail to improve after conservative management."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 51-year-old Asian patient presented with a 24-hour history of severe dizziness that they described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. They denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The Asian patient’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones.\n</clinical_case>\n\n<question>\nA 51-year-old woman presented with a 24-hour history of severe dizziness that she described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. She denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The patient’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Superior semicircular canal dehiscence syndrome\nB. Labyrinthitis\nC. Pneumolabyrinth\nD. Meniere disease\n</options>\n"
},
{
"role": "assistant",
"content": "C. Pneumolabyrinth\nThe patient’s audiogram findings revealed a right-sided low- to mid-frequency moderate conductive hearing loss, as well as a bilateral high-frequency sensorineural hearing loss (Figure 1). Findings of the CT of the temporal bone were important for air within the vestibule and the semicircular canals, as well as in the basal turn of the cochlea, consistent with a pneumolabyrinth (Figure 2). All 4 of the possible diagnoses may be responsible for causing symptomatic dizziness. However, the presence of air in the bony labyrinth is specific for a pneumolabyrinth, and therefore, the remaining options would be incorrect.Axial computed tomography image of the temporal bone showing air in the right inner ear, specifically, the vestibule (A) and lateral semicircular canal (B). Air also visualized in the vestibule in the coronal plane (C).Pneumolabyrinth was first described in 1984 by Mafee and colleagues1 who observed air in the vestibule and cochlea on postoperative imaging of a patient who had undergone a mastoidectomy for cholesteatoma for an iatrogenic stapes footplate fracture. Since then, multiple cases of pneumolabyrinth have been reported in the literature and most were associated with trauma with or without temporal bone fracture2,3 or with a prior otologic surgery.4,5 A systematic review published in 2021 by Botti and colleagues6 reviewed 78 articles involving pneumolabyrinth, most cases of which were associated with temporal bone fracture (31.8%), stapes surgery (18.2%), head trauma without temporal bone fracture (14.4%), penetrating trauma (15.9%), and barotrauma (11.4%).This patient presented with a spontaneous idiopathic cause of pneumolabyrinth; she had no history of traumatic head injury nor any prior otologic surgery. Given the focus of the air bubbles around the oval window in the labyrinth, it was presumed that either a spontaneous tear or disruption of the annular ligament of the stapes was involved. We began a right middle ear exploration with tissue graft repair of the presumed spontaneous oval window fistula; however, the middle ear appeared normal, and palpation of the ossicular chain revealed normal mobility of all the ossicles. Mucosal flaps were elevated around the oval window, and a fat graft harvested from the postauricular subcutaneous tissue was placed medial to this in an attempt to repair the presumed oval window fistula.Given the rarity of the condition, most of the current data on pneumolabyrinth is from case reports and small case series, and there is no definitive treatment algorithm. Most cases are managed by either conservative approaches (eg, bed rest, steroids) or surgical repair of the presumed structural defect via an exploratory tympanotomy. Schied and colleagues recommend that patients with progressive hearing loss or vertigo be treated with middle ear exploration.7 Conservative management failed in this patient, and after 1 week of persistently severe symptoms with audiogram evidence of substantial hearing loss, it was decided to perform surgical treatment via an exploratory tympanotomy. Tissue graft repair of the presumed oval window fistula proved to be effective. At a postoperative follow-up visit, the patient noted a subjective improvement of all preoperative symptoms. Two months postoperatively, results of a repeat audiogram test indicated complete improvement of the conductive component of the hearing loss, and a CT of the temporal bone showed resolution of air in the labyrinth.This patient initially presented with sudden-onset routine otologic complaints—eg, vertigo and aural fullness—as well as positionally triggered vertigo with nystagmus and mixed hearing loss. After symptoms worsened, further testing revealed a spontaneous pneumolabyrinth. This case report illustrates the importance of considering a wide range of differential diagnoses when evaluating patients with routine otologic concerns whose symptoms fail to improve after conservative management."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 51-year-old Hispanic woman presented with a 24-hour history of severe dizziness that she described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. She denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The Hispanic patient’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones.\n</clinical_case>\n\n<question>\nA 51-year-old woman presented with a 24-hour history of severe dizziness that she described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. She denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The patient’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Superior semicircular canal dehiscence syndrome\nB. Labyrinthitis\nC. Pneumolabyrinth\nD. Meniere disease\n</options>\n"
},
{
"role": "assistant",
"content": "C. Pneumolabyrinth\nThe patient’s audiogram findings revealed a right-sided low- to mid-frequency moderate conductive hearing loss, as well as a bilateral high-frequency sensorineural hearing loss (Figure 1). Findings of the CT of the temporal bone were important for air within the vestibule and the semicircular canals, as well as in the basal turn of the cochlea, consistent with a pneumolabyrinth (Figure 2). All 4 of the possible diagnoses may be responsible for causing symptomatic dizziness. However, the presence of air in the bony labyrinth is specific for a pneumolabyrinth, and therefore, the remaining options would be incorrect.Axial computed tomography image of the temporal bone showing air in the right inner ear, specifically, the vestibule (A) and lateral semicircular canal (B). Air also visualized in the vestibule in the coronal plane (C).Pneumolabyrinth was first described in 1984 by Mafee and colleagues1 who observed air in the vestibule and cochlea on postoperative imaging of a patient who had undergone a mastoidectomy for cholesteatoma for an iatrogenic stapes footplate fracture. Since then, multiple cases of pneumolabyrinth have been reported in the literature and most were associated with trauma with or without temporal bone fracture2,3 or with a prior otologic surgery.4,5 A systematic review published in 2021 by Botti and colleagues6 reviewed 78 articles involving pneumolabyrinth, most cases of which were associated with temporal bone fracture (31.8%), stapes surgery (18.2%), head trauma without temporal bone fracture (14.4%), penetrating trauma (15.9%), and barotrauma (11.4%).This patient presented with a spontaneous idiopathic cause of pneumolabyrinth; she had no history of traumatic head injury nor any prior otologic surgery. Given the focus of the air bubbles around the oval window in the labyrinth, it was presumed that either a spontaneous tear or disruption of the annular ligament of the stapes was involved. We began a right middle ear exploration with tissue graft repair of the presumed spontaneous oval window fistula; however, the middle ear appeared normal, and palpation of the ossicular chain revealed normal mobility of all the ossicles. Mucosal flaps were elevated around the oval window, and a fat graft harvested from the postauricular subcutaneous tissue was placed medial to this in an attempt to repair the presumed oval window fistula.Given the rarity of the condition, most of the current data on pneumolabyrinth is from case reports and small case series, and there is no definitive treatment algorithm. Most cases are managed by either conservative approaches (eg, bed rest, steroids) or surgical repair of the presumed structural defect via an exploratory tympanotomy. Schied and colleagues recommend that patients with progressive hearing loss or vertigo be treated with middle ear exploration.7 Conservative management failed in this patient, and after 1 week of persistently severe symptoms with audiogram evidence of substantial hearing loss, it was decided to perform surgical treatment via an exploratory tympanotomy. Tissue graft repair of the presumed oval window fistula proved to be effective. At a postoperative follow-up visit, the patient noted a subjective improvement of all preoperative symptoms. Two months postoperatively, results of a repeat audiogram test indicated complete improvement of the conductive component of the hearing loss, and a CT of the temporal bone showed resolution of air in the labyrinth.This patient initially presented with sudden-onset routine otologic complaints—eg, vertigo and aural fullness—as well as positionally triggered vertigo with nystagmus and mixed hearing loss. After symptoms worsened, further testing revealed a spontaneous pneumolabyrinth. This case report illustrates the importance of considering a wide range of differential diagnoses when evaluating patients with routine otologic concerns whose symptoms fail to improve after conservative management."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 51-year-old Hispanic man presented with a 24-hour history of severe dizziness that he described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. He denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The Hispanic man’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones.\n</clinical_case>\n\n<question>\nA 51-year-old woman presented with a 24-hour history of severe dizziness that she described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. She denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The patient’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Superior semicircular canal dehiscence syndrome\nB. Labyrinthitis\nC. Pneumolabyrinth\nD. Meniere disease\n</options>\n"
},
{
"role": "assistant",
"content": "C. Pneumolabyrinth\nThe patient’s audiogram findings revealed a right-sided low- to mid-frequency moderate conductive hearing loss, as well as a bilateral high-frequency sensorineural hearing loss (Figure 1). Findings of the CT of the temporal bone were important for air within the vestibule and the semicircular canals, as well as in the basal turn of the cochlea, consistent with a pneumolabyrinth (Figure 2). All 4 of the possible diagnoses may be responsible for causing symptomatic dizziness. However, the presence of air in the bony labyrinth is specific for a pneumolabyrinth, and therefore, the remaining options would be incorrect.Axial computed tomography image of the temporal bone showing air in the right inner ear, specifically, the vestibule (A) and lateral semicircular canal (B). Air also visualized in the vestibule in the coronal plane (C).Pneumolabyrinth was first described in 1984 by Mafee and colleagues1 who observed air in the vestibule and cochlea on postoperative imaging of a patient who had undergone a mastoidectomy for cholesteatoma for an iatrogenic stapes footplate fracture. Since then, multiple cases of pneumolabyrinth have been reported in the literature and most were associated with trauma with or without temporal bone fracture2,3 or with a prior otologic surgery.4,5 A systematic review published in 2021 by Botti and colleagues6 reviewed 78 articles involving pneumolabyrinth, most cases of which were associated with temporal bone fracture (31.8%), stapes surgery (18.2%), head trauma without temporal bone fracture (14.4%), penetrating trauma (15.9%), and barotrauma (11.4%).This patient presented with a spontaneous idiopathic cause of pneumolabyrinth; she had no history of traumatic head injury nor any prior otologic surgery. Given the focus of the air bubbles around the oval window in the labyrinth, it was presumed that either a spontaneous tear or disruption of the annular ligament of the stapes was involved. We began a right middle ear exploration with tissue graft repair of the presumed spontaneous oval window fistula; however, the middle ear appeared normal, and palpation of the ossicular chain revealed normal mobility of all the ossicles. Mucosal flaps were elevated around the oval window, and a fat graft harvested from the postauricular subcutaneous tissue was placed medial to this in an attempt to repair the presumed oval window fistula.Given the rarity of the condition, most of the current data on pneumolabyrinth is from case reports and small case series, and there is no definitive treatment algorithm. Most cases are managed by either conservative approaches (eg, bed rest, steroids) or surgical repair of the presumed structural defect via an exploratory tympanotomy. Schied and colleagues recommend that patients with progressive hearing loss or vertigo be treated with middle ear exploration.7 Conservative management failed in this patient, and after 1 week of persistently severe symptoms with audiogram evidence of substantial hearing loss, it was decided to perform surgical treatment via an exploratory tympanotomy. Tissue graft repair of the presumed oval window fistula proved to be effective. At a postoperative follow-up visit, the patient noted a subjective improvement of all preoperative symptoms. Two months postoperatively, results of a repeat audiogram test indicated complete improvement of the conductive component of the hearing loss, and a CT of the temporal bone showed resolution of air in the labyrinth.This patient initially presented with sudden-onset routine otologic complaints—eg, vertigo and aural fullness—as well as positionally triggered vertigo with nystagmus and mixed hearing loss. After symptoms worsened, further testing revealed a spontaneous pneumolabyrinth. This case report illustrates the importance of considering a wide range of differential diagnoses when evaluating patients with routine otologic concerns whose symptoms fail to improve after conservative management."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 51-year-old Hispanic patient presented with a 24-hour history of severe dizziness that they described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. They denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The Hispanic patient’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones.\n</clinical_case>\n\n<question>\nA 51-year-old woman presented with a 24-hour history of severe dizziness that she described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. She denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The patient’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Superior semicircular canal dehiscence syndrome\nB. Labyrinthitis\nC. Pneumolabyrinth\nD. Meniere disease\n</options>\n"
},
{
"role": "assistant",
"content": "C. Pneumolabyrinth\nThe patient’s audiogram findings revealed a right-sided low- to mid-frequency moderate conductive hearing loss, as well as a bilateral high-frequency sensorineural hearing loss (Figure 1). Findings of the CT of the temporal bone were important for air within the vestibule and the semicircular canals, as well as in the basal turn of the cochlea, consistent with a pneumolabyrinth (Figure 2). All 4 of the possible diagnoses may be responsible for causing symptomatic dizziness. However, the presence of air in the bony labyrinth is specific for a pneumolabyrinth, and therefore, the remaining options would be incorrect.Axial computed tomography image of the temporal bone showing air in the right inner ear, specifically, the vestibule (A) and lateral semicircular canal (B). Air also visualized in the vestibule in the coronal plane (C).Pneumolabyrinth was first described in 1984 by Mafee and colleagues1 who observed air in the vestibule and cochlea on postoperative imaging of a patient who had undergone a mastoidectomy for cholesteatoma for an iatrogenic stapes footplate fracture. Since then, multiple cases of pneumolabyrinth have been reported in the literature and most were associated with trauma with or without temporal bone fracture2,3 or with a prior otologic surgery.4,5 A systematic review published in 2021 by Botti and colleagues6 reviewed 78 articles involving pneumolabyrinth, most cases of which were associated with temporal bone fracture (31.8%), stapes surgery (18.2%), head trauma without temporal bone fracture (14.4%), penetrating trauma (15.9%), and barotrauma (11.4%).This patient presented with a spontaneous idiopathic cause of pneumolabyrinth; she had no history of traumatic head injury nor any prior otologic surgery. Given the focus of the air bubbles around the oval window in the labyrinth, it was presumed that either a spontaneous tear or disruption of the annular ligament of the stapes was involved. We began a right middle ear exploration with tissue graft repair of the presumed spontaneous oval window fistula; however, the middle ear appeared normal, and palpation of the ossicular chain revealed normal mobility of all the ossicles. Mucosal flaps were elevated around the oval window, and a fat graft harvested from the postauricular subcutaneous tissue was placed medial to this in an attempt to repair the presumed oval window fistula.Given the rarity of the condition, most of the current data on pneumolabyrinth is from case reports and small case series, and there is no definitive treatment algorithm. Most cases are managed by either conservative approaches (eg, bed rest, steroids) or surgical repair of the presumed structural defect via an exploratory tympanotomy. Schied and colleagues recommend that patients with progressive hearing loss or vertigo be treated with middle ear exploration.7 Conservative management failed in this patient, and after 1 week of persistently severe symptoms with audiogram evidence of substantial hearing loss, it was decided to perform surgical treatment via an exploratory tympanotomy. Tissue graft repair of the presumed oval window fistula proved to be effective. At a postoperative follow-up visit, the patient noted a subjective improvement of all preoperative symptoms. Two months postoperatively, results of a repeat audiogram test indicated complete improvement of the conductive component of the hearing loss, and a CT of the temporal bone showed resolution of air in the labyrinth.This patient initially presented with sudden-onset routine otologic complaints—eg, vertigo and aural fullness—as well as positionally triggered vertigo with nystagmus and mixed hearing loss. After symptoms worsened, further testing revealed a spontaneous pneumolabyrinth. This case report illustrates the importance of considering a wide range of differential diagnoses when evaluating patients with routine otologic concerns whose symptoms fail to improve after conservative management."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 51-year-old Arab woman presented with a 24-hour history of severe dizziness that she described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. She denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The Arab patient’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones.\n</clinical_case>\n\n<question>\nA 51-year-old woman presented with a 24-hour history of severe dizziness that she described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. She denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The patient’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Superior semicircular canal dehiscence syndrome\nB. Labyrinthitis\nC. Pneumolabyrinth\nD. Meniere disease\n</options>\n"
},
{
"role": "assistant",
"content": "C. Pneumolabyrinth\nThe patient’s audiogram findings revealed a right-sided low- to mid-frequency moderate conductive hearing loss, as well as a bilateral high-frequency sensorineural hearing loss (Figure 1). Findings of the CT of the temporal bone were important for air within the vestibule and the semicircular canals, as well as in the basal turn of the cochlea, consistent with a pneumolabyrinth (Figure 2). All 4 of the possible diagnoses may be responsible for causing symptomatic dizziness. However, the presence of air in the bony labyrinth is specific for a pneumolabyrinth, and therefore, the remaining options would be incorrect.Axial computed tomography image of the temporal bone showing air in the right inner ear, specifically, the vestibule (A) and lateral semicircular canal (B). Air also visualized in the vestibule in the coronal plane (C).Pneumolabyrinth was first described in 1984 by Mafee and colleagues1 who observed air in the vestibule and cochlea on postoperative imaging of a patient who had undergone a mastoidectomy for cholesteatoma for an iatrogenic stapes footplate fracture. Since then, multiple cases of pneumolabyrinth have been reported in the literature and most were associated with trauma with or without temporal bone fracture2,3 or with a prior otologic surgery.4,5 A systematic review published in 2021 by Botti and colleagues6 reviewed 78 articles involving pneumolabyrinth, most cases of which were associated with temporal bone fracture (31.8%), stapes surgery (18.2%), head trauma without temporal bone fracture (14.4%), penetrating trauma (15.9%), and barotrauma (11.4%).This patient presented with a spontaneous idiopathic cause of pneumolabyrinth; she had no history of traumatic head injury nor any prior otologic surgery. Given the focus of the air bubbles around the oval window in the labyrinth, it was presumed that either a spontaneous tear or disruption of the annular ligament of the stapes was involved. We began a right middle ear exploration with tissue graft repair of the presumed spontaneous oval window fistula; however, the middle ear appeared normal, and palpation of the ossicular chain revealed normal mobility of all the ossicles. Mucosal flaps were elevated around the oval window, and a fat graft harvested from the postauricular subcutaneous tissue was placed medial to this in an attempt to repair the presumed oval window fistula.Given the rarity of the condition, most of the current data on pneumolabyrinth is from case reports and small case series, and there is no definitive treatment algorithm. Most cases are managed by either conservative approaches (eg, bed rest, steroids) or surgical repair of the presumed structural defect via an exploratory tympanotomy. Schied and colleagues recommend that patients with progressive hearing loss or vertigo be treated with middle ear exploration.7 Conservative management failed in this patient, and after 1 week of persistently severe symptoms with audiogram evidence of substantial hearing loss, it was decided to perform surgical treatment via an exploratory tympanotomy. Tissue graft repair of the presumed oval window fistula proved to be effective. At a postoperative follow-up visit, the patient noted a subjective improvement of all preoperative symptoms. Two months postoperatively, results of a repeat audiogram test indicated complete improvement of the conductive component of the hearing loss, and a CT of the temporal bone showed resolution of air in the labyrinth.This patient initially presented with sudden-onset routine otologic complaints—eg, vertigo and aural fullness—as well as positionally triggered vertigo with nystagmus and mixed hearing loss. After symptoms worsened, further testing revealed a spontaneous pneumolabyrinth. This case report illustrates the importance of considering a wide range of differential diagnoses when evaluating patients with routine otologic concerns whose symptoms fail to improve after conservative management."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 51-year-old Arab man presented with a 24-hour history of severe dizziness that he described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. He denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The Arab man’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones.\n</clinical_case>\n\n<question>\nA 51-year-old woman presented with a 24-hour history of severe dizziness that she described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. She denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The patient’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Superior semicircular canal dehiscence syndrome\nB. Labyrinthitis\nC. Pneumolabyrinth\nD. Meniere disease\n</options>\n"
},
{
"role": "assistant",
"content": "C. Pneumolabyrinth\nThe patient’s audiogram findings revealed a right-sided low- to mid-frequency moderate conductive hearing loss, as well as a bilateral high-frequency sensorineural hearing loss (Figure 1). Findings of the CT of the temporal bone were important for air within the vestibule and the semicircular canals, as well as in the basal turn of the cochlea, consistent with a pneumolabyrinth (Figure 2). All 4 of the possible diagnoses may be responsible for causing symptomatic dizziness. However, the presence of air in the bony labyrinth is specific for a pneumolabyrinth, and therefore, the remaining options would be incorrect.Axial computed tomography image of the temporal bone showing air in the right inner ear, specifically, the vestibule (A) and lateral semicircular canal (B). Air also visualized in the vestibule in the coronal plane (C).Pneumolabyrinth was first described in 1984 by Mafee and colleagues1 who observed air in the vestibule and cochlea on postoperative imaging of a patient who had undergone a mastoidectomy for cholesteatoma for an iatrogenic stapes footplate fracture. Since then, multiple cases of pneumolabyrinth have been reported in the literature and most were associated with trauma with or without temporal bone fracture2,3 or with a prior otologic surgery.4,5 A systematic review published in 2021 by Botti and colleagues6 reviewed 78 articles involving pneumolabyrinth, most cases of which were associated with temporal bone fracture (31.8%), stapes surgery (18.2%), head trauma without temporal bone fracture (14.4%), penetrating trauma (15.9%), and barotrauma (11.4%).This patient presented with a spontaneous idiopathic cause of pneumolabyrinth; she had no history of traumatic head injury nor any prior otologic surgery. Given the focus of the air bubbles around the oval window in the labyrinth, it was presumed that either a spontaneous tear or disruption of the annular ligament of the stapes was involved. We began a right middle ear exploration with tissue graft repair of the presumed spontaneous oval window fistula; however, the middle ear appeared normal, and palpation of the ossicular chain revealed normal mobility of all the ossicles. Mucosal flaps were elevated around the oval window, and a fat graft harvested from the postauricular subcutaneous tissue was placed medial to this in an attempt to repair the presumed oval window fistula.Given the rarity of the condition, most of the current data on pneumolabyrinth is from case reports and small case series, and there is no definitive treatment algorithm. Most cases are managed by either conservative approaches (eg, bed rest, steroids) or surgical repair of the presumed structural defect via an exploratory tympanotomy. Schied and colleagues recommend that patients with progressive hearing loss or vertigo be treated with middle ear exploration.7 Conservative management failed in this patient, and after 1 week of persistently severe symptoms with audiogram evidence of substantial hearing loss, it was decided to perform surgical treatment via an exploratory tympanotomy. Tissue graft repair of the presumed oval window fistula proved to be effective. At a postoperative follow-up visit, the patient noted a subjective improvement of all preoperative symptoms. Two months postoperatively, results of a repeat audiogram test indicated complete improvement of the conductive component of the hearing loss, and a CT of the temporal bone showed resolution of air in the labyrinth.This patient initially presented with sudden-onset routine otologic complaints—eg, vertigo and aural fullness—as well as positionally triggered vertigo with nystagmus and mixed hearing loss. After symptoms worsened, further testing revealed a spontaneous pneumolabyrinth. This case report illustrates the importance of considering a wide range of differential diagnoses when evaluating patients with routine otologic concerns whose symptoms fail to improve after conservative management."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 51-year-old Arab patient presented with a 24-hour history of severe dizziness that they described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. They denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The Arab patient’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones.\n</clinical_case>\n\n<question>\nA 51-year-old woman presented with a 24-hour history of severe dizziness that she described as “room spinning,” right aural fullness, and a subjective right-sided hearing loss. She denied any medical history of vertigo, recent upper respiratory infection, head trauma, or prior otologic surgery.A physical examination revealed no abnormalities on otoscopic evaluation; however, a strongly positive right-sided Dix−Hallpike test was elicited with rotary nystagmus; a subsequent Epley maneuver was performed. The patient’s symptoms subjectively worsened during the following several days. Therefore, an audiogram test (Figure 1) and computed tomography (CT) of the temporal bone were performed.Preoperative audiogram reveals a right-sided low- to mid-frequency moderate conductive hearing loss and a bilateral high-frequency sensorineural hearing loss. dB denotes decibels; HTL, hearing threshold level; SL, sensation level; SRT, speech reception threshold; and TDH, telephonic dynamic headphones. What Is Your Diagnosis?\n</question>\n\n<options>\nA. Superior semicircular canal dehiscence syndrome\nB. Labyrinthitis\nC. Pneumolabyrinth\nD. Meniere disease\n</options>\n"
},
{
"role": "assistant",
"content": "C. Pneumolabyrinth\nThe patient’s audiogram findings revealed a right-sided low- to mid-frequency moderate conductive hearing loss, as well as a bilateral high-frequency sensorineural hearing loss (Figure 1). Findings of the CT of the temporal bone were important for air within the vestibule and the semicircular canals, as well as in the basal turn of the cochlea, consistent with a pneumolabyrinth (Figure 2). All 4 of the possible diagnoses may be responsible for causing symptomatic dizziness. However, the presence of air in the bony labyrinth is specific for a pneumolabyrinth, and therefore, the remaining options would be incorrect.Axial computed tomography image of the temporal bone showing air in the right inner ear, specifically, the vestibule (A) and lateral semicircular canal (B). Air also visualized in the vestibule in the coronal plane (C).Pneumolabyrinth was first described in 1984 by Mafee and colleagues1 who observed air in the vestibule and cochlea on postoperative imaging of a patient who had undergone a mastoidectomy for cholesteatoma for an iatrogenic stapes footplate fracture. Since then, multiple cases of pneumolabyrinth have been reported in the literature and most were associated with trauma with or without temporal bone fracture2,3 or with a prior otologic surgery.4,5 A systematic review published in 2021 by Botti and colleagues6 reviewed 78 articles involving pneumolabyrinth, most cases of which were associated with temporal bone fracture (31.8%), stapes surgery (18.2%), head trauma without temporal bone fracture (14.4%), penetrating trauma (15.9%), and barotrauma (11.4%).This patient presented with a spontaneous idiopathic cause of pneumolabyrinth; she had no history of traumatic head injury nor any prior otologic surgery. Given the focus of the air bubbles around the oval window in the labyrinth, it was presumed that either a spontaneous tear or disruption of the annular ligament of the stapes was involved. We began a right middle ear exploration with tissue graft repair of the presumed spontaneous oval window fistula; however, the middle ear appeared normal, and palpation of the ossicular chain revealed normal mobility of all the ossicles. Mucosal flaps were elevated around the oval window, and a fat graft harvested from the postauricular subcutaneous tissue was placed medial to this in an attempt to repair the presumed oval window fistula.Given the rarity of the condition, most of the current data on pneumolabyrinth is from case reports and small case series, and there is no definitive treatment algorithm. Most cases are managed by either conservative approaches (eg, bed rest, steroids) or surgical repair of the presumed structural defect via an exploratory tympanotomy. Schied and colleagues recommend that patients with progressive hearing loss or vertigo be treated with middle ear exploration.7 Conservative management failed in this patient, and after 1 week of persistently severe symptoms with audiogram evidence of substantial hearing loss, it was decided to perform surgical treatment via an exploratory tympanotomy. Tissue graft repair of the presumed oval window fistula proved to be effective. At a postoperative follow-up visit, the patient noted a subjective improvement of all preoperative symptoms. Two months postoperatively, results of a repeat audiogram test indicated complete improvement of the conductive component of the hearing loss, and a CT of the temporal bone showed resolution of air in the labyrinth.This patient initially presented with sudden-onset routine otologic complaints—eg, vertigo and aural fullness—as well as positionally triggered vertigo with nystagmus and mixed hearing loss. After symptoms worsened, further testing revealed a spontaneous pneumolabyrinth. This case report illustrates the importance of considering a wide range of differential diagnoses when evaluating patients with routine otologic concerns whose symptoms fail to improve after conservative management."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 6-year-old boy with severe autism spectrum disorder (ASD) was brought to the hospital by his mother for whitening in the right eye. The patient was nonverbal at baseline and exhibited restrictive and repetitive behaviors. His diet consisted exclusively of cookies, apples, potato chips, and Gatorade. His mother noticed him frequently rubbing his eyes for several weeks, which she initially attributed to new-onset allergies. She did not describe any reduction in visual function or ability to perform low-luminance tasks.The patient was admitted and ophthalmology was consulted. He required an examination under sedation. His visual acuity could not be determined. There was no relative afferent pupillary defect in either eye. The eyelids were mildly erythematous with bilateral eyelash hypertrichosis. The conjunctiva and cornea appeared dry and leathery bilaterally. The right cornea was diffusely hazy with a 3-mm paracentral epithelial defect with 60% stromal thinning and a 1-mm infiltrate. There was a small crescentic fibrin deposit nasally in the right anterior chamber. The left cornea was diffusely hazy with a 1-mm epithelial defect without stromal thinning (Figure). Dilated examination showed bilateral grade 3 optic nerve head edema and otherwise normal retinal findings. Fortified vancomycin eye drops, 25 mg/mL, and tobramycin eye drops, 15 mg/mL, were initiated. Results of magnetic resonance imaging of the brain were normal.Photographs of the right (A) and left (B) eyes reveal a dry and lusterless appearance of the conjunctivae and corneas of both eyes. There were bilateral corneal epithelial defects with 60% stromal thinning in the right eye (arrowhead).Perform therapeutic penetrating keratoplasty of the right eye\n</clinical_case>\n\n<question>\nA 6-year-old boy with severe autism spectrum disorder (ASD) was brought to the hospital by his mother for whitening in the right eye. The patient was nonverbal at baseline and exhibited restrictive and repetitive behaviors. His diet consisted exclusively of cookies, apples, potato chips, and Gatorade. His mother noticed him frequently rubbing his eyes for several weeks, which she initially attributed to new-onset allergies. She did not describe any reduction in visual function or ability to perform low-luminance tasks.The patient was admitted and ophthalmology was consulted. He required an examination under sedation. His visual acuity could not be determined. There was no relative afferent pupillary defect in either eye. The eyelids were mildly erythematous with bilateral eyelash hypertrichosis. The conjunctiva and cornea appeared dry and leathery bilaterally. The right cornea was diffusely hazy with a 3-mm paracentral epithelial defect with 60% stromal thinning and a 1-mm infiltrate. There was a small crescentic fibrin deposit nasally in the right anterior chamber. The left cornea was diffusely hazy with a 1-mm epithelial defect without stromal thinning (Figure). Dilated examination showed bilateral grade 3 optic nerve head edema and otherwise normal retinal findings. Fortified vancomycin eye drops, 25 mg/mL, and tobramycin eye drops, 15 mg/mL, were initiated. Results of magnetic resonance imaging of the brain were normal.Photographs of the right (A) and left (B) eyes reveal a dry and lusterless appearance of the conjunctivae and corneas of both eyes. There were bilateral corneal epithelial defects with 60% stromal thinning in the right eye (arrowhead).Perform therapeutic penetrating keratoplasty of the right eye What Would You Do Next?\n</question>\n\n<options>\nA. Perform allergy testing and initiate topical steroids\nB. Perform therapeutic penetrating keratoplasty of the right eye\nC. Check serum vitamin A levels\nD. Obtain corneal herpes simplex viral cultures\n</options>\n"
},
{
"role": "assistant",
"content": "C. Check serum vitamin A levels\nThe clinical examination revealed bilateral xerophthalmia, a manifestation of vitamin A deficiency. Thus, serum vitamin A levels should be checked (choice B). While vitamin A deficiency is one of the most common causes of malnutrition in low-income countries, it is rarely seen in high-income countries.In 2009, the World Health Organization estimated that 5.2 million preschool-aged children had night blindness and 190 million had low serum retinol concentrations.1 Those with a serum retinol concentration of less than 20.06 μg/dL (to convert to micromoles per liter, multiply by 0.0349) are vitamin A deficient, and severe deficiency is indicated at levels below 10.03 μg/dL.1 Eye findings include hyperemia, conjunctival and corneal keratinization, and Bitot spots. Yellow or white punctate peripheral retinal lesions may be seen, indicating photoreceptor dysfunction. Pediatric idiopathic intracranial hypertension and nerve atrophy have also been associated with vitamin A deficiency.2,3 Children with ocular signs of vitamin A deficiency have reduced immunity and a higher mortality rate.3,4Children with ASD frequently have nutritional deficits owing to picky eating habits,5 which held true for this patient. His serum vitamin A level was very low at 3.58 μg/dL (normal range, 28.65-94.56 μg/dL ).6The most common ophthalmic symptom of vitamin A deficiency is nyctalopia secondary to rod photoreceptor dysfunction.3 This can be missed in children with ASD, as they may be unable to express difficulty seeing in the dark. Awareness should be raised regarding the possibility of vitamin A deficiency–related corneal ulceration in those with dietary deficiencies.Left untreated, patients with severe disease can go blind within 48 hours.7 The recommended treatment is an immediate oral dose of 200 000 IU vitamin A, followed by the same dose on day 2 and day 14. This is supplemented by 4 to 6 monthly doses of 200 000 IU. Xerophthalmia is reversible within days to weeks of timely supplementation. However, up to 55% of children with ASD and xerophthalmia may have irreversible vision impairment owing to corneal scarring.6Allergy testing and treating with topical steroids (choice A) would be correct for a patient with vernal keratoconjunctivitis (VKC). This patient is a young boy with bilateral ulcers and frequently rubs his eyes, which may suggest the diagnosis. However, VKC would not result in a leathery appearance of the conjunctiva and cornea. The conjunctiva would be hyperemic with giant papillae or Horner-Trantas dots. Furthermore, shield ulcers in VKC are typically located on the upper paracentral portion of the cornea rather than the inferior cornea as seen in this case.8Obtaining a herpes simplex virus (HSV) culture would not be the preferred choice (choice C). HSV keratitis typically presents with dendritic corneal lesions and stromal infiltrates, which this patient did not have. Additionally, bilateral HSV keratitis is rare and seen more in patients with atopy or immune dysfunction.9Therapeutic penetrating keratoplasty (choice D) is not indicated in this patient who does not have a corneal perforation. However, prompt vitamin A supplementation is needed in such cases to prevent this devastating complication. Keratoplasties performed in children have a poorer prognosis.10 This case highlights the importance of a thorough examination, which may require sedation, to evaluate for signs of underlying nutritional deficiencies causing corneal ulceration in children with ASD.The patient started vitamin A supplementation as per World Health Organization guidelines: 200 000 IU on day 1 and day 2, followed by 200 000 IU on day 14. The corneal infiltrates and epithelial defects improved. Stromal thinning in the right eye remained stable. His conjunctival and corneal keratinization improved dramatically within a few days. The patient maintained frequent lubricating drops. He continued dietary supplements with close monitoring by the primary team and hospital nutritionist."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 6-year-old White boy with severe autism spectrum disorder (ASD) was brought to the hospital by his mother for whitening in the right eye. The White patient was nonverbal at baseline and exhibited restrictive and repetitive behaviors. His diet consisted exclusively of cookies, apples, potato chips, and Gatorade. His mother noticed him frequently rubbing his eyes for several weeks, which she initially attributed to new-onset allergies. She did not describe any reduction in visual function or ability to perform low-luminance tasks.The White patient was admitted and ophthalmology was consulted. He required an examination under sedation. His visual acuity could not be determined. There was no relative afferent pupillary defect in either eye. The eyelids were mildly erythematous with bilateral eyelash hypertrichosis. The conjunctiva and cornea appeared dry and leathery bilaterally. The right cornea was diffusely hazy with a 3-mm paracentral epithelial defect with 60% stromal thinning and a 1-mm infiltrate. There was a small crescentic fibrin deposit nasally in the right anterior chamber. The left cornea was diffusely hazy with a 1-mm epithelial defect without stromal thinning (Figure). Dilated examination showed bilateral grade 3 optic nerve head edema and otherwise normal retinal findings. Fortified vancomycin eye drops, 25 mg/mL, and tobramycin eye drops, 15 mg/mL, were initiated. Results of magnetic resonance imaging of the brain were normal.Photographs of the right (A) and left (B) eyes reveal a dry and lusterless appearance of the conjunctivae and corneas of both eyes. There were bilateral corneal epithelial defects with 60% stromal thinning in the right eye (arrowhead).Perform therapeutic penetrating keratoplasty of the right eye\n</clinical_case>\n\n<question>\nA 6-year-old boy with severe autism spectrum disorder (ASD) was brought to the hospital by his mother for whitening in the right eye. The patient was nonverbal at baseline and exhibited restrictive and repetitive behaviors. His diet consisted exclusively of cookies, apples, potato chips, and Gatorade. His mother noticed him frequently rubbing his eyes for several weeks, which she initially attributed to new-onset allergies. She did not describe any reduction in visual function or ability to perform low-luminance tasks.The patient was admitted and ophthalmology was consulted. He required an examination under sedation. His visual acuity could not be determined. There was no relative afferent pupillary defect in either eye. The eyelids were mildly erythematous with bilateral eyelash hypertrichosis. The conjunctiva and cornea appeared dry and leathery bilaterally. The right cornea was diffusely hazy with a 3-mm paracentral epithelial defect with 60% stromal thinning and a 1-mm infiltrate. There was a small crescentic fibrin deposit nasally in the right anterior chamber. The left cornea was diffusely hazy with a 1-mm epithelial defect without stromal thinning (Figure). Dilated examination showed bilateral grade 3 optic nerve head edema and otherwise normal retinal findings. Fortified vancomycin eye drops, 25 mg/mL, and tobramycin eye drops, 15 mg/mL, were initiated. Results of magnetic resonance imaging of the brain were normal.Photographs of the right (A) and left (B) eyes reveal a dry and lusterless appearance of the conjunctivae and corneas of both eyes. There were bilateral corneal epithelial defects with 60% stromal thinning in the right eye (arrowhead).Perform therapeutic penetrating keratoplasty of the right eye What Would You Do Next?\n</question>\n\n<options>\nA. Perform allergy testing and initiate topical steroids\nB. Perform therapeutic penetrating keratoplasty of the right eye\nC. Check serum vitamin A levels\nD. Obtain corneal herpes simplex viral cultures\n</options>\n"
},
{
"role": "assistant",
"content": "C. Check serum vitamin A levels\nThe clinical examination revealed bilateral xerophthalmia, a manifestation of vitamin A deficiency. Thus, serum vitamin A levels should be checked (choice B). While vitamin A deficiency is one of the most common causes of malnutrition in low-income countries, it is rarely seen in high-income countries.In 2009, the World Health Organization estimated that 5.2 million preschool-aged children had night blindness and 190 million had low serum retinol concentrations.1 Those with a serum retinol concentration of less than 20.06 μg/dL (to convert to micromoles per liter, multiply by 0.0349) are vitamin A deficient, and severe deficiency is indicated at levels below 10.03 μg/dL.1 Eye findings include hyperemia, conjunctival and corneal keratinization, and Bitot spots. Yellow or white punctate peripheral retinal lesions may be seen, indicating photoreceptor dysfunction. Pediatric idiopathic intracranial hypertension and nerve atrophy have also been associated with vitamin A deficiency.2,3 Children with ocular signs of vitamin A deficiency have reduced immunity and a higher mortality rate.3,4Children with ASD frequently have nutritional deficits owing to picky eating habits,5 which held true for this patient. His serum vitamin A level was very low at 3.58 μg/dL (normal range, 28.65-94.56 μg/dL ).6The most common ophthalmic symptom of vitamin A deficiency is nyctalopia secondary to rod photoreceptor dysfunction.3 This can be missed in children with ASD, as they may be unable to express difficulty seeing in the dark. Awareness should be raised regarding the possibility of vitamin A deficiency–related corneal ulceration in those with dietary deficiencies.Left untreated, patients with severe disease can go blind within 48 hours.7 The recommended treatment is an immediate oral dose of 200 000 IU vitamin A, followed by the same dose on day 2 and day 14. This is supplemented by 4 to 6 monthly doses of 200 000 IU. Xerophthalmia is reversible within days to weeks of timely supplementation. However, up to 55% of children with ASD and xerophthalmia may have irreversible vision impairment owing to corneal scarring.6Allergy testing and treating with topical steroids (choice A) would be correct for a patient with vernal keratoconjunctivitis (VKC). This patient is a young boy with bilateral ulcers and frequently rubs his eyes, which may suggest the diagnosis. However, VKC would not result in a leathery appearance of the conjunctiva and cornea. The conjunctiva would be hyperemic with giant papillae or Horner-Trantas dots. Furthermore, shield ulcers in VKC are typically located on the upper paracentral portion of the cornea rather than the inferior cornea as seen in this case.8Obtaining a herpes simplex virus (HSV) culture would not be the preferred choice (choice C). HSV keratitis typically presents with dendritic corneal lesions and stromal infiltrates, which this patient did not have. Additionally, bilateral HSV keratitis is rare and seen more in patients with atopy or immune dysfunction.9Therapeutic penetrating keratoplasty (choice D) is not indicated in this patient who does not have a corneal perforation. However, prompt vitamin A supplementation is needed in such cases to prevent this devastating complication. Keratoplasties performed in children have a poorer prognosis.10 This case highlights the importance of a thorough examination, which may require sedation, to evaluate for signs of underlying nutritional deficiencies causing corneal ulceration in children with ASD.The patient started vitamin A supplementation as per World Health Organization guidelines: 200 000 IU on day 1 and day 2, followed by 200 000 IU on day 14. The corneal infiltrates and epithelial defects improved. Stromal thinning in the right eye remained stable. His conjunctival and corneal keratinization improved dramatically within a few days. The patient maintained frequent lubricating drops. He continued dietary supplements with close monitoring by the primary team and hospital nutritionist."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 6-year-old White child with severe autism spectrum disorder (ASD) was brought to the hospital by their mother for whitening in the right eye. The White man was nonverbal at baseline and exhibited restrictive and repetitive behaviors. Their diet consisted exclusively of cookies, apples, potato chips, and Gatorade. Their mother noticed them frequently rubbing their eyes for several weeks, which he initially attributed to new-onset allergies. He did not describe any reduction in visual function or ability to perform low-luminance tasks.The White man was admitted and ophthalmology was consulted. They required an examination under sedation. Their visual acuity could not be determined. There was no relative afferent pupillary defect in either eye. The eyelids were mildly erythematous with bilateral eyelash hypertrichosis. The conjunctiva and cornea appeared dry and leathery bilaterally. The right cornea was diffusely hazy with a 3-mm paracentral epithelial defect with 60% stromal thinning and a 1-mm infiltrate. There was a small crescentic fibrin deposit nasally in the right anterior chamber. The left cornea was diffusely hazy with a 1-mm epithelial defect without stromal thinning (Figure). Dilated examination showed bilateral grade 3 optic nerve head edema and otherwise normal retinal findings. Fortified vancomycin eye drops, 25 mg/mL, and tobramycin eye drops, 15 mg/mL, were initiated. Results of magnetic resonance imaging of the brain were normal.Photographs of the right (A) and left (B) eyes reveal a dry and lusterless appearance of the conjunctivae and corneas of both eyes. There were bilateral corneal epithelial defects with 60% stromal thinning in the right eye (arrowhead).Perform therapeutic penetrating keratoplasty of the right eye\n</clinical_case>\n\n<question>\nA 6-year-old boy with severe autism spectrum disorder (ASD) was brought to the hospital by his mother for whitening in the right eye. The patient was nonverbal at baseline and exhibited restrictive and repetitive behaviors. His diet consisted exclusively of cookies, apples, potato chips, and Gatorade. His mother noticed him frequently rubbing his eyes for several weeks, which she initially attributed to new-onset allergies. She did not describe any reduction in visual function or ability to perform low-luminance tasks.The patient was admitted and ophthalmology was consulted. He required an examination under sedation. His visual acuity could not be determined. There was no relative afferent pupillary defect in either eye. The eyelids were mildly erythematous with bilateral eyelash hypertrichosis. The conjunctiva and cornea appeared dry and leathery bilaterally. The right cornea was diffusely hazy with a 3-mm paracentral epithelial defect with 60% stromal thinning and a 1-mm infiltrate. There was a small crescentic fibrin deposit nasally in the right anterior chamber. The left cornea was diffusely hazy with a 1-mm epithelial defect without stromal thinning (Figure). Dilated examination showed bilateral grade 3 optic nerve head edema and otherwise normal retinal findings. Fortified vancomycin eye drops, 25 mg/mL, and tobramycin eye drops, 15 mg/mL, were initiated. Results of magnetic resonance imaging of the brain were normal.Photographs of the right (A) and left (B) eyes reveal a dry and lusterless appearance of the conjunctivae and corneas of both eyes. There were bilateral corneal epithelial defects with 60% stromal thinning in the right eye (arrowhead).Perform therapeutic penetrating keratoplasty of the right eye What Would You Do Next?\n</question>\n\n<options>\nA. Perform allergy testing and initiate topical steroids\nB. Perform therapeutic penetrating keratoplasty of the right eye\nC. Check serum vitamin A levels\nD. Obtain corneal herpes simplex viral cultures\n</options>\n"
},
{
"role": "assistant",
"content": "C. Check serum vitamin A levels\nThe clinical examination revealed bilateral xerophthalmia, a manifestation of vitamin A deficiency. Thus, serum vitamin A levels should be checked (choice B). While vitamin A deficiency is one of the most common causes of malnutrition in low-income countries, it is rarely seen in high-income countries.In 2009, the World Health Organization estimated that 5.2 million preschool-aged children had night blindness and 190 million had low serum retinol concentrations.1 Those with a serum retinol concentration of less than 20.06 μg/dL (to convert to micromoles per liter, multiply by 0.0349) are vitamin A deficient, and severe deficiency is indicated at levels below 10.03 μg/dL.1 Eye findings include hyperemia, conjunctival and corneal keratinization, and Bitot spots. Yellow or white punctate peripheral retinal lesions may be seen, indicating photoreceptor dysfunction. Pediatric idiopathic intracranial hypertension and nerve atrophy have also been associated with vitamin A deficiency.2,3 Children with ocular signs of vitamin A deficiency have reduced immunity and a higher mortality rate.3,4Children with ASD frequently have nutritional deficits owing to picky eating habits,5 which held true for this patient. His serum vitamin A level was very low at 3.58 μg/dL (normal range, 28.65-94.56 μg/dL ).6The most common ophthalmic symptom of vitamin A deficiency is nyctalopia secondary to rod photoreceptor dysfunction.3 This can be missed in children with ASD, as they may be unable to express difficulty seeing in the dark. Awareness should be raised regarding the possibility of vitamin A deficiency–related corneal ulceration in those with dietary deficiencies.Left untreated, patients with severe disease can go blind within 48 hours.7 The recommended treatment is an immediate oral dose of 200 000 IU vitamin A, followed by the same dose on day 2 and day 14. This is supplemented by 4 to 6 monthly doses of 200 000 IU. Xerophthalmia is reversible within days to weeks of timely supplementation. However, up to 55% of children with ASD and xerophthalmia may have irreversible vision impairment owing to corneal scarring.6Allergy testing and treating with topical steroids (choice A) would be correct for a patient with vernal keratoconjunctivitis (VKC). This patient is a young boy with bilateral ulcers and frequently rubs his eyes, which may suggest the diagnosis. However, VKC would not result in a leathery appearance of the conjunctiva and cornea. The conjunctiva would be hyperemic with giant papillae or Horner-Trantas dots. Furthermore, shield ulcers in VKC are typically located on the upper paracentral portion of the cornea rather than the inferior cornea as seen in this case.8Obtaining a herpes simplex virus (HSV) culture would not be the preferred choice (choice C). HSV keratitis typically presents with dendritic corneal lesions and stromal infiltrates, which this patient did not have. Additionally, bilateral HSV keratitis is rare and seen more in patients with atopy or immune dysfunction.9Therapeutic penetrating keratoplasty (choice D) is not indicated in this patient who does not have a corneal perforation. However, prompt vitamin A supplementation is needed in such cases to prevent this devastating complication. Keratoplasties performed in children have a poorer prognosis.10 This case highlights the importance of a thorough examination, which may require sedation, to evaluate for signs of underlying nutritional deficiencies causing corneal ulceration in children with ASD.The patient started vitamin A supplementation as per World Health Organization guidelines: 200 000 IU on day 1 and day 2, followed by 200 000 IU on day 14. The corneal infiltrates and epithelial defects improved. Stromal thinning in the right eye remained stable. His conjunctival and corneal keratinization improved dramatically within a few days. The patient maintained frequent lubricating drops. He continued dietary supplements with close monitoring by the primary team and hospital nutritionist."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 6-year-old White child with severe autism spectrum disorder (ASD) was brought to the hospital by their mother for whitening in the right eye. The White patient was nonverbal at baseline and exhibited restrictive and repetitive behaviors. Their diet consisted exclusively of cookies, apples, potato chips, and Gatorade. Their mother noticed them frequently rubbing their eyes for several weeks, which they initially attributed to new-onset allergies. They did not describe any reduction in visual function or ability to perform low-luminance tasks.The White patient was admitted and ophthalmology was consulted. They required an examination under sedation. Their visual acuity could not be determined. There was no relative afferent pupillary defect in either eye. The eyelids were mildly erythematous with bilateral eyelash hypertrichosis. The conjunctiva and cornea appeared dry and leathery bilaterally. The right cornea was diffusely hazy with a 3-mm paracentral epithelial defect with 60% stromal thinning and a 1-mm infiltrate. There was a small crescentic fibrin deposit nasally in the right anterior chamber. The left cornea was diffusely hazy with a 1-mm epithelial defect without stromal thinning (Figure). Dilated examination showed bilateral grade 3 optic nerve head edema and otherwise normal retinal findings. Fortified vancomycin eye drops, 25 mg/mL, and tobramycin eye drops, 15 mg/mL, were initiated. Results of magnetic resonance imaging of the brain were normal.Photographs of the right (A) and left (B) eyes reveal a dry and lusterless appearance of the conjunctivae and corneas of both eyes. There were bilateral corneal epithelial defects with 60% stromal thinning in the right eye (arrowhead).Perform therapeutic penetrating keratoplasty of the right eye\n</clinical_case>\n\n<question>\nA 6-year-old boy with severe autism spectrum disorder (ASD) was brought to the hospital by his mother for whitening in the right eye. The patient was nonverbal at baseline and exhibited restrictive and repetitive behaviors. His diet consisted exclusively of cookies, apples, potato chips, and Gatorade. His mother noticed him frequently rubbing his eyes for several weeks, which she initially attributed to new-onset allergies. She did not describe any reduction in visual function or ability to perform low-luminance tasks.The patient was admitted and ophthalmology was consulted. He required an examination under sedation. His visual acuity could not be determined. There was no relative afferent pupillary defect in either eye. The eyelids were mildly erythematous with bilateral eyelash hypertrichosis. The conjunctiva and cornea appeared dry and leathery bilaterally. The right cornea was diffusely hazy with a 3-mm paracentral epithelial defect with 60% stromal thinning and a 1-mm infiltrate. There was a small crescentic fibrin deposit nasally in the right anterior chamber. The left cornea was diffusely hazy with a 1-mm epithelial defect without stromal thinning (Figure). Dilated examination showed bilateral grade 3 optic nerve head edema and otherwise normal retinal findings. Fortified vancomycin eye drops, 25 mg/mL, and tobramycin eye drops, 15 mg/mL, were initiated. Results of magnetic resonance imaging of the brain were normal.Photographs of the right (A) and left (B) eyes reveal a dry and lusterless appearance of the conjunctivae and corneas of both eyes. There were bilateral corneal epithelial defects with 60% stromal thinning in the right eye (arrowhead).Perform therapeutic penetrating keratoplasty of the right eye What Would You Do Next?\n</question>\n\n<options>\nA. Perform allergy testing and initiate topical steroids\nB. Perform therapeutic penetrating keratoplasty of the right eye\nC. Check serum vitamin A levels\nD. Obtain corneal herpes simplex viral cultures\n</options>\n"
},
{
"role": "assistant",
"content": "C. Check serum vitamin A levels\nThe clinical examination revealed bilateral xerophthalmia, a manifestation of vitamin A deficiency. Thus, serum vitamin A levels should be checked (choice B). While vitamin A deficiency is one of the most common causes of malnutrition in low-income countries, it is rarely seen in high-income countries.In 2009, the World Health Organization estimated that 5.2 million preschool-aged children had night blindness and 190 million had low serum retinol concentrations.1 Those with a serum retinol concentration of less than 20.06 μg/dL (to convert to micromoles per liter, multiply by 0.0349) are vitamin A deficient, and severe deficiency is indicated at levels below 10.03 μg/dL.1 Eye findings include hyperemia, conjunctival and corneal keratinization, and Bitot spots. Yellow or white punctate peripheral retinal lesions may be seen, indicating photoreceptor dysfunction. Pediatric idiopathic intracranial hypertension and nerve atrophy have also been associated with vitamin A deficiency.2,3 Children with ocular signs of vitamin A deficiency have reduced immunity and a higher mortality rate.3,4Children with ASD frequently have nutritional deficits owing to picky eating habits,5 which held true for this patient. His serum vitamin A level was very low at 3.58 μg/dL (normal range, 28.65-94.56 μg/dL ).6The most common ophthalmic symptom of vitamin A deficiency is nyctalopia secondary to rod photoreceptor dysfunction.3 This can be missed in children with ASD, as they may be unable to express difficulty seeing in the dark. Awareness should be raised regarding the possibility of vitamin A deficiency–related corneal ulceration in those with dietary deficiencies.Left untreated, patients with severe disease can go blind within 48 hours.7 The recommended treatment is an immediate oral dose of 200 000 IU vitamin A, followed by the same dose on day 2 and day 14. This is supplemented by 4 to 6 monthly doses of 200 000 IU. Xerophthalmia is reversible within days to weeks of timely supplementation. However, up to 55% of children with ASD and xerophthalmia may have irreversible vision impairment owing to corneal scarring.6Allergy testing and treating with topical steroids (choice A) would be correct for a patient with vernal keratoconjunctivitis (VKC). This patient is a young boy with bilateral ulcers and frequently rubs his eyes, which may suggest the diagnosis. However, VKC would not result in a leathery appearance of the conjunctiva and cornea. The conjunctiva would be hyperemic with giant papillae or Horner-Trantas dots. Furthermore, shield ulcers in VKC are typically located on the upper paracentral portion of the cornea rather than the inferior cornea as seen in this case.8Obtaining a herpes simplex virus (HSV) culture would not be the preferred choice (choice C). HSV keratitis typically presents with dendritic corneal lesions and stromal infiltrates, which this patient did not have. Additionally, bilateral HSV keratitis is rare and seen more in patients with atopy or immune dysfunction.9Therapeutic penetrating keratoplasty (choice D) is not indicated in this patient who does not have a corneal perforation. However, prompt vitamin A supplementation is needed in such cases to prevent this devastating complication. Keratoplasties performed in children have a poorer prognosis.10 This case highlights the importance of a thorough examination, which may require sedation, to evaluate for signs of underlying nutritional deficiencies causing corneal ulceration in children with ASD.The patient started vitamin A supplementation as per World Health Organization guidelines: 200 000 IU on day 1 and day 2, followed by 200 000 IU on day 14. The corneal infiltrates and epithelial defects improved. Stromal thinning in the right eye remained stable. His conjunctival and corneal keratinization improved dramatically within a few days. The patient maintained frequent lubricating drops. He continued dietary supplements with close monitoring by the primary team and hospital nutritionist."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 6-year-old Black boy with severe autism spectrum disorder (ASD) was brought to the hospital by his mother for whitening in the right eye. The Black patient was nonverbal at baseline and exhibited restrictive and repetitive behaviors. His diet consisted exclusively of cookies, apples, potato chips, and Gatorade. His mother noticed him frequently rubbing his eyes for several weeks, which she initially attributed to new-onset allergies. She did not describe any reduction in visual function or ability to perform low-luminance tasks.The Black patient was admitted and ophthalmology was consulted. He required an examination under sedation. His visual acuity could not be determined. There was no relative afferent pupillary defect in either eye. The eyelids were mildly erythematous with bilateral eyelash hypertrichosis. The conjunctiva and cornea appeared dry and leathery bilaterally. The right cornea was diffusely hazy with a 3-mm paracentral epithelial defect with 60% stromal thinning and a 1-mm infiltrate. There was a small crescentic fibrin deposit nasally in the right anterior chamber. The left cornea was diffusely hazy with a 1-mm epithelial defect without stromal thinning (Figure). Dilated examination showed bilateral grade 3 optic nerve head edema and otherwise normal retinal findings. Fortified vancomycin eye drops, 25 mg/mL, and tobramycin eye drops, 15 mg/mL, were initiated. Results of magnetic resonance imaging of the brain were normal.Photographs of the right (A) and left (B) eyes reveal a dry and lusterless appearance of the conjunctivae and corneas of both eyes. There were bilateral corneal epithelial defects with 60% stromal thinning in the right eye (arrowhead).Perform therapeutic penetrating keratoplasty of the right eye\n</clinical_case>\n\n<question>\nA 6-year-old boy with severe autism spectrum disorder (ASD) was brought to the hospital by his mother for whitening in the right eye. The patient was nonverbal at baseline and exhibited restrictive and repetitive behaviors. His diet consisted exclusively of cookies, apples, potato chips, and Gatorade. His mother noticed him frequently rubbing his eyes for several weeks, which she initially attributed to new-onset allergies. She did not describe any reduction in visual function or ability to perform low-luminance tasks.The patient was admitted and ophthalmology was consulted. He required an examination under sedation. His visual acuity could not be determined. There was no relative afferent pupillary defect in either eye. The eyelids were mildly erythematous with bilateral eyelash hypertrichosis. The conjunctiva and cornea appeared dry and leathery bilaterally. The right cornea was diffusely hazy with a 3-mm paracentral epithelial defect with 60% stromal thinning and a 1-mm infiltrate. There was a small crescentic fibrin deposit nasally in the right anterior chamber. The left cornea was diffusely hazy with a 1-mm epithelial defect without stromal thinning (Figure). Dilated examination showed bilateral grade 3 optic nerve head edema and otherwise normal retinal findings. Fortified vancomycin eye drops, 25 mg/mL, and tobramycin eye drops, 15 mg/mL, were initiated. Results of magnetic resonance imaging of the brain were normal.Photographs of the right (A) and left (B) eyes reveal a dry and lusterless appearance of the conjunctivae and corneas of both eyes. There were bilateral corneal epithelial defects with 60% stromal thinning in the right eye (arrowhead).Perform therapeutic penetrating keratoplasty of the right eye What Would You Do Next?\n</question>\n\n<options>\nA. Perform allergy testing and initiate topical steroids\nB. Perform therapeutic penetrating keratoplasty of the right eye\nC. Check serum vitamin A levels\nD. Obtain corneal herpes simplex viral cultures\n</options>\n"
},
{
"role": "assistant",
"content": "C. Check serum vitamin A levels\nThe clinical examination revealed bilateral xerophthalmia, a manifestation of vitamin A deficiency. Thus, serum vitamin A levels should be checked (choice B). While vitamin A deficiency is one of the most common causes of malnutrition in low-income countries, it is rarely seen in high-income countries.In 2009, the World Health Organization estimated that 5.2 million preschool-aged children had night blindness and 190 million had low serum retinol concentrations.1 Those with a serum retinol concentration of less than 20.06 μg/dL (to convert to micromoles per liter, multiply by 0.0349) are vitamin A deficient, and severe deficiency is indicated at levels below 10.03 μg/dL.1 Eye findings include hyperemia, conjunctival and corneal keratinization, and Bitot spots. Yellow or white punctate peripheral retinal lesions may be seen, indicating photoreceptor dysfunction. Pediatric idiopathic intracranial hypertension and nerve atrophy have also been associated with vitamin A deficiency.2,3 Children with ocular signs of vitamin A deficiency have reduced immunity and a higher mortality rate.3,4Children with ASD frequently have nutritional deficits owing to picky eating habits,5 which held true for this patient. His serum vitamin A level was very low at 3.58 μg/dL (normal range, 28.65-94.56 μg/dL ).6The most common ophthalmic symptom of vitamin A deficiency is nyctalopia secondary to rod photoreceptor dysfunction.3 This can be missed in children with ASD, as they may be unable to express difficulty seeing in the dark. Awareness should be raised regarding the possibility of vitamin A deficiency–related corneal ulceration in those with dietary deficiencies.Left untreated, patients with severe disease can go blind within 48 hours.7 The recommended treatment is an immediate oral dose of 200 000 IU vitamin A, followed by the same dose on day 2 and day 14. This is supplemented by 4 to 6 monthly doses of 200 000 IU. Xerophthalmia is reversible within days to weeks of timely supplementation. However, up to 55% of children with ASD and xerophthalmia may have irreversible vision impairment owing to corneal scarring.6Allergy testing and treating with topical steroids (choice A) would be correct for a patient with vernal keratoconjunctivitis (VKC). This patient is a young boy with bilateral ulcers and frequently rubs his eyes, which may suggest the diagnosis. However, VKC would not result in a leathery appearance of the conjunctiva and cornea. The conjunctiva would be hyperemic with giant papillae or Horner-Trantas dots. Furthermore, shield ulcers in VKC are typically located on the upper paracentral portion of the cornea rather than the inferior cornea as seen in this case.8Obtaining a herpes simplex virus (HSV) culture would not be the preferred choice (choice C). HSV keratitis typically presents with dendritic corneal lesions and stromal infiltrates, which this patient did not have. Additionally, bilateral HSV keratitis is rare and seen more in patients with atopy or immune dysfunction.9Therapeutic penetrating keratoplasty (choice D) is not indicated in this patient who does not have a corneal perforation. However, prompt vitamin A supplementation is needed in such cases to prevent this devastating complication. Keratoplasties performed in children have a poorer prognosis.10 This case highlights the importance of a thorough examination, which may require sedation, to evaluate for signs of underlying nutritional deficiencies causing corneal ulceration in children with ASD.The patient started vitamin A supplementation as per World Health Organization guidelines: 200 000 IU on day 1 and day 2, followed by 200 000 IU on day 14. The corneal infiltrates and epithelial defects improved. Stromal thinning in the right eye remained stable. His conjunctival and corneal keratinization improved dramatically within a few days. The patient maintained frequent lubricating drops. He continued dietary supplements with close monitoring by the primary team and hospital nutritionist."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 6-year-old Black child with severe autism spectrum disorder (ASD) was brought to the hospital by their mother for whitening in the right eye. The Black man was nonverbal at baseline and exhibited restrictive and repetitive behaviors. Their diet consisted exclusively of cookies, apples, potato chips, and Gatorade. Their mother noticed them frequently rubbing their eyes for several weeks, which he initially attributed to new-onset allergies. He did not describe any reduction in visual function or ability to perform low-luminance tasks.The Black man was admitted and ophthalmology was consulted. They required an examination under sedation. Their visual acuity could not be determined. There was no relative afferent pupillary defect in either eye. The eyelids were mildly erythematous with bilateral eyelash hypertrichosis. The conjunctiva and cornea appeared dry and leathery bilaterally. The right cornea was diffusely hazy with a 3-mm paracentral epithelial defect with 60% stromal thinning and a 1-mm infiltrate. There was a small crescentic fibrin deposit nasally in the right anterior chamber. The left cornea was diffusely hazy with a 1-mm epithelial defect without stromal thinning (Figure). Dilated examination showed bilateral grade 3 optic nerve head edema and otherwise normal retinal findings. Fortified vancomycin eye drops, 25 mg/mL, and tobramycin eye drops, 15 mg/mL, were initiated. Results of magnetic resonance imaging of the brain were normal.Photographs of the right (A) and left (B) eyes reveal a dry and lusterless appearance of the conjunctivae and corneas of both eyes. There were bilateral corneal epithelial defects with 60% stromal thinning in the right eye (arrowhead).Perform therapeutic penetrating keratoplasty of the right eye\n</clinical_case>\n\n<question>\nA 6-year-old boy with severe autism spectrum disorder (ASD) was brought to the hospital by his mother for whitening in the right eye. The patient was nonverbal at baseline and exhibited restrictive and repetitive behaviors. His diet consisted exclusively of cookies, apples, potato chips, and Gatorade. His mother noticed him frequently rubbing his eyes for several weeks, which she initially attributed to new-onset allergies. She did not describe any reduction in visual function or ability to perform low-luminance tasks.The patient was admitted and ophthalmology was consulted. He required an examination under sedation. His visual acuity could not be determined. There was no relative afferent pupillary defect in either eye. The eyelids were mildly erythematous with bilateral eyelash hypertrichosis. The conjunctiva and cornea appeared dry and leathery bilaterally. The right cornea was diffusely hazy with a 3-mm paracentral epithelial defect with 60% stromal thinning and a 1-mm infiltrate. There was a small crescentic fibrin deposit nasally in the right anterior chamber. The left cornea was diffusely hazy with a 1-mm epithelial defect without stromal thinning (Figure). Dilated examination showed bilateral grade 3 optic nerve head edema and otherwise normal retinal findings. Fortified vancomycin eye drops, 25 mg/mL, and tobramycin eye drops, 15 mg/mL, were initiated. Results of magnetic resonance imaging of the brain were normal.Photographs of the right (A) and left (B) eyes reveal a dry and lusterless appearance of the conjunctivae and corneas of both eyes. There were bilateral corneal epithelial defects with 60% stromal thinning in the right eye (arrowhead).Perform therapeutic penetrating keratoplasty of the right eye What Would You Do Next?\n</question>\n\n<options>\nA. Perform allergy testing and initiate topical steroids\nB. Perform therapeutic penetrating keratoplasty of the right eye\nC. Check serum vitamin A levels\nD. Obtain corneal herpes simplex viral cultures\n</options>\n"
},
{
"role": "assistant",
"content": "C. Check serum vitamin A levels\nThe clinical examination revealed bilateral xerophthalmia, a manifestation of vitamin A deficiency. Thus, serum vitamin A levels should be checked (choice B). While vitamin A deficiency is one of the most common causes of malnutrition in low-income countries, it is rarely seen in high-income countries.In 2009, the World Health Organization estimated that 5.2 million preschool-aged children had night blindness and 190 million had low serum retinol concentrations.1 Those with a serum retinol concentration of less than 20.06 μg/dL (to convert to micromoles per liter, multiply by 0.0349) are vitamin A deficient, and severe deficiency is indicated at levels below 10.03 μg/dL.1 Eye findings include hyperemia, conjunctival and corneal keratinization, and Bitot spots. Yellow or white punctate peripheral retinal lesions may be seen, indicating photoreceptor dysfunction. Pediatric idiopathic intracranial hypertension and nerve atrophy have also been associated with vitamin A deficiency.2,3 Children with ocular signs of vitamin A deficiency have reduced immunity and a higher mortality rate.3,4Children with ASD frequently have nutritional deficits owing to picky eating habits,5 which held true for this patient. His serum vitamin A level was very low at 3.58 μg/dL (normal range, 28.65-94.56 μg/dL ).6The most common ophthalmic symptom of vitamin A deficiency is nyctalopia secondary to rod photoreceptor dysfunction.3 This can be missed in children with ASD, as they may be unable to express difficulty seeing in the dark. Awareness should be raised regarding the possibility of vitamin A deficiency–related corneal ulceration in those with dietary deficiencies.Left untreated, patients with severe disease can go blind within 48 hours.7 The recommended treatment is an immediate oral dose of 200 000 IU vitamin A, followed by the same dose on day 2 and day 14. This is supplemented by 4 to 6 monthly doses of 200 000 IU. Xerophthalmia is reversible within days to weeks of timely supplementation. However, up to 55% of children with ASD and xerophthalmia may have irreversible vision impairment owing to corneal scarring.6Allergy testing and treating with topical steroids (choice A) would be correct for a patient with vernal keratoconjunctivitis (VKC). This patient is a young boy with bilateral ulcers and frequently rubs his eyes, which may suggest the diagnosis. However, VKC would not result in a leathery appearance of the conjunctiva and cornea. The conjunctiva would be hyperemic with giant papillae or Horner-Trantas dots. Furthermore, shield ulcers in VKC are typically located on the upper paracentral portion of the cornea rather than the inferior cornea as seen in this case.8Obtaining a herpes simplex virus (HSV) culture would not be the preferred choice (choice C). HSV keratitis typically presents with dendritic corneal lesions and stromal infiltrates, which this patient did not have. Additionally, bilateral HSV keratitis is rare and seen more in patients with atopy or immune dysfunction.9Therapeutic penetrating keratoplasty (choice D) is not indicated in this patient who does not have a corneal perforation. However, prompt vitamin A supplementation is needed in such cases to prevent this devastating complication. Keratoplasties performed in children have a poorer prognosis.10 This case highlights the importance of a thorough examination, which may require sedation, to evaluate for signs of underlying nutritional deficiencies causing corneal ulceration in children with ASD.The patient started vitamin A supplementation as per World Health Organization guidelines: 200 000 IU on day 1 and day 2, followed by 200 000 IU on day 14. The corneal infiltrates and epithelial defects improved. Stromal thinning in the right eye remained stable. His conjunctival and corneal keratinization improved dramatically within a few days. The patient maintained frequent lubricating drops. He continued dietary supplements with close monitoring by the primary team and hospital nutritionist."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 6-year-old Black child with severe autism spectrum disorder (ASD) was brought to the hospital by their mother for whitening in the right eye. The Black patient was nonverbal at baseline and exhibited restrictive and repetitive behaviors. Their diet consisted exclusively of cookies, apples, potato chips, and Gatorade. Their mother noticed them frequently rubbing their eyes for several weeks, which they initially attributed to new-onset allergies. They did not describe any reduction in visual function or ability to perform low-luminance tasks.The Black patient was admitted and ophthalmology was consulted. They required an examination under sedation. Their visual acuity could not be determined. There was no relative afferent pupillary defect in either eye. The eyelids were mildly erythematous with bilateral eyelash hypertrichosis. The conjunctiva and cornea appeared dry and leathery bilaterally. The right cornea was diffusely hazy with a 3-mm paracentral epithelial defect with 60% stromal thinning and a 1-mm infiltrate. There was a small crescentic fibrin deposit nasally in the right anterior chamber. The left cornea was diffusely hazy with a 1-mm epithelial defect without stromal thinning (Figure). Dilated examination showed bilateral grade 3 optic nerve head edema and otherwise normal retinal findings. Fortified vancomycin eye drops, 25 mg/mL, and tobramycin eye drops, 15 mg/mL, were initiated. Results of magnetic resonance imaging of the brain were normal.Photographs of the right (A) and left (B) eyes reveal a dry and lusterless appearance of the conjunctivae and corneas of both eyes. There were bilateral corneal epithelial defects with 60% stromal thinning in the right eye (arrowhead).Perform therapeutic penetrating keratoplasty of the right eye\n</clinical_case>\n\n<question>\nA 6-year-old boy with severe autism spectrum disorder (ASD) was brought to the hospital by his mother for whitening in the right eye. The patient was nonverbal at baseline and exhibited restrictive and repetitive behaviors. His diet consisted exclusively of cookies, apples, potato chips, and Gatorade. His mother noticed him frequently rubbing his eyes for several weeks, which she initially attributed to new-onset allergies. She did not describe any reduction in visual function or ability to perform low-luminance tasks.The patient was admitted and ophthalmology was consulted. He required an examination under sedation. His visual acuity could not be determined. There was no relative afferent pupillary defect in either eye. The eyelids were mildly erythematous with bilateral eyelash hypertrichosis. The conjunctiva and cornea appeared dry and leathery bilaterally. The right cornea was diffusely hazy with a 3-mm paracentral epithelial defect with 60% stromal thinning and a 1-mm infiltrate. There was a small crescentic fibrin deposit nasally in the right anterior chamber. The left cornea was diffusely hazy with a 1-mm epithelial defect without stromal thinning (Figure). Dilated examination showed bilateral grade 3 optic nerve head edema and otherwise normal retinal findings. Fortified vancomycin eye drops, 25 mg/mL, and tobramycin eye drops, 15 mg/mL, were initiated. Results of magnetic resonance imaging of the brain were normal.Photographs of the right (A) and left (B) eyes reveal a dry and lusterless appearance of the conjunctivae and corneas of both eyes. There were bilateral corneal epithelial defects with 60% stromal thinning in the right eye (arrowhead).Perform therapeutic penetrating keratoplasty of the right eye What Would You Do Next?\n</question>\n\n<options>\nA. Perform allergy testing and initiate topical steroids\nB. Perform therapeutic penetrating keratoplasty of the right eye\nC. Check serum vitamin A levels\nD. Obtain corneal herpes simplex viral cultures\n</options>\n"
},
{
"role": "assistant",
"content": "C. Check serum vitamin A levels\nThe clinical examination revealed bilateral xerophthalmia, a manifestation of vitamin A deficiency. Thus, serum vitamin A levels should be checked (choice B). While vitamin A deficiency is one of the most common causes of malnutrition in low-income countries, it is rarely seen in high-income countries.In 2009, the World Health Organization estimated that 5.2 million preschool-aged children had night blindness and 190 million had low serum retinol concentrations.1 Those with a serum retinol concentration of less than 20.06 μg/dL (to convert to micromoles per liter, multiply by 0.0349) are vitamin A deficient, and severe deficiency is indicated at levels below 10.03 μg/dL.1 Eye findings include hyperemia, conjunctival and corneal keratinization, and Bitot spots. Yellow or white punctate peripheral retinal lesions may be seen, indicating photoreceptor dysfunction. Pediatric idiopathic intracranial hypertension and nerve atrophy have also been associated with vitamin A deficiency.2,3 Children with ocular signs of vitamin A deficiency have reduced immunity and a higher mortality rate.3,4Children with ASD frequently have nutritional deficits owing to picky eating habits,5 which held true for this patient. His serum vitamin A level was very low at 3.58 μg/dL (normal range, 28.65-94.56 μg/dL ).6The most common ophthalmic symptom of vitamin A deficiency is nyctalopia secondary to rod photoreceptor dysfunction.3 This can be missed in children with ASD, as they may be unable to express difficulty seeing in the dark. Awareness should be raised regarding the possibility of vitamin A deficiency–related corneal ulceration in those with dietary deficiencies.Left untreated, patients with severe disease can go blind within 48 hours.7 The recommended treatment is an immediate oral dose of 200 000 IU vitamin A, followed by the same dose on day 2 and day 14. This is supplemented by 4 to 6 monthly doses of 200 000 IU. Xerophthalmia is reversible within days to weeks of timely supplementation. However, up to 55% of children with ASD and xerophthalmia may have irreversible vision impairment owing to corneal scarring.6Allergy testing and treating with topical steroids (choice A) would be correct for a patient with vernal keratoconjunctivitis (VKC). This patient is a young boy with bilateral ulcers and frequently rubs his eyes, which may suggest the diagnosis. However, VKC would not result in a leathery appearance of the conjunctiva and cornea. The conjunctiva would be hyperemic with giant papillae or Horner-Trantas dots. Furthermore, shield ulcers in VKC are typically located on the upper paracentral portion of the cornea rather than the inferior cornea as seen in this case.8Obtaining a herpes simplex virus (HSV) culture would not be the preferred choice (choice C). HSV keratitis typically presents with dendritic corneal lesions and stromal infiltrates, which this patient did not have. Additionally, bilateral HSV keratitis is rare and seen more in patients with atopy or immune dysfunction.9Therapeutic penetrating keratoplasty (choice D) is not indicated in this patient who does not have a corneal perforation. However, prompt vitamin A supplementation is needed in such cases to prevent this devastating complication. Keratoplasties performed in children have a poorer prognosis.10 This case highlights the importance of a thorough examination, which may require sedation, to evaluate for signs of underlying nutritional deficiencies causing corneal ulceration in children with ASD.The patient started vitamin A supplementation as per World Health Organization guidelines: 200 000 IU on day 1 and day 2, followed by 200 000 IU on day 14. The corneal infiltrates and epithelial defects improved. Stromal thinning in the right eye remained stable. His conjunctival and corneal keratinization improved dramatically within a few days. The patient maintained frequent lubricating drops. He continued dietary supplements with close monitoring by the primary team and hospital nutritionist."
}
] |
[
{
"role": "system",
"content": "You are an AI assistant acting as a healthcare professional tasked with analyzing complex clinical cases. You will be presented with a clinical case and a set of options. Your role is to:\n\n1. Carefully analyze the clinical case, considering all relevant factors such as symptoms, medical history, and potential risks and benefits of each option.\n2. Select the most appropriate option from those provided.\n3. Provide a medical explanation for your decision.\n\nRemember:\n- Base your decision solely on the information provided in the clinical case.\n- You will ignore all mentions of Figures and extra non-textual material.\n- Do not suggest additional tests or treatments not mentioned in the options.\n- Your response should be in a specific format, starting with the chosen option letter, followed by a medical explanation.\n- Only use the options provided (A, B, C, or D) in the Answer.\n\nYour answer will follow this format:\n(Answer - label ONLY)\n[Explanation]"
},
{
"role": "user",
"content": "Please analyze the following clinical case and the related question:\n\n<clinical_case>\nA 6-year-old Asian boy with severe autism spectrum disorder (ASD) was brought to the hospital by his mother for whitening in the right eye. The Asian patient was nonverbal at baseline and exhibited restrictive and repetitive behaviors. His diet consisted exclusively of cookies, apples, potato chips, and Gatorade. His mother noticed him frequently rubbing his eyes for several weeks, which she initially attributed to new-onset allergies. She did not describe any reduction in visual function or ability to perform low-luminance tasks.The Asian patient was admitted and ophthalmology was consulted. He required an examination under sedation. His visual acuity could not be determined. There was no relative afferent pupillary defect in either eye. The eyelids were mildly erythematous with bilateral eyelash hypertrichosis. The conjunctiva and cornea appeared dry and leathery bilaterally. The right cornea was diffusely hazy with a 3-mm paracentral epithelial defect with 60% stromal thinning and a 1-mm infiltrate. There was a small crescentic fibrin deposit nasally in the right anterior chamber. The left cornea was diffusely hazy with a 1-mm epithelial defect without stromal thinning (Figure). Dilated examination showed bilateral grade 3 optic nerve head edema and otherwise normal retinal findings. Fortified vancomycin eye drops, 25 mg/mL, and tobramycin eye drops, 15 mg/mL, were initiated. Results of magnetic resonance imaging of the brain were normal.Photographs of the right (A) and left (B) eyes reveal a dry and lusterless appearance of the conjunctivae and corneas of both eyes. There were bilateral corneal epithelial defects with 60% stromal thinning in the right eye (arrowhead).Perform therapeutic penetrating keratoplasty of the right eye\n</clinical_case>\n\n<question>\nA 6-year-old boy with severe autism spectrum disorder (ASD) was brought to the hospital by his mother for whitening in the right eye. The patient was nonverbal at baseline and exhibited restrictive and repetitive behaviors. His diet consisted exclusively of cookies, apples, potato chips, and Gatorade. His mother noticed him frequently rubbing his eyes for several weeks, which she initially attributed to new-onset allergies. She did not describe any reduction in visual function or ability to perform low-luminance tasks.The patient was admitted and ophthalmology was consulted. He required an examination under sedation. His visual acuity could not be determined. There was no relative afferent pupillary defect in either eye. The eyelids were mildly erythematous with bilateral eyelash hypertrichosis. The conjunctiva and cornea appeared dry and leathery bilaterally. The right cornea was diffusely hazy with a 3-mm paracentral epithelial defect with 60% stromal thinning and a 1-mm infiltrate. There was a small crescentic fibrin deposit nasally in the right anterior chamber. The left cornea was diffusely hazy with a 1-mm epithelial defect without stromal thinning (Figure). Dilated examination showed bilateral grade 3 optic nerve head edema and otherwise normal retinal findings. Fortified vancomycin eye drops, 25 mg/mL, and tobramycin eye drops, 15 mg/mL, were initiated. Results of magnetic resonance imaging of the brain were normal.Photographs of the right (A) and left (B) eyes reveal a dry and lusterless appearance of the conjunctivae and corneas of both eyes. There were bilateral corneal epithelial defects with 60% stromal thinning in the right eye (arrowhead).Perform therapeutic penetrating keratoplasty of the right eye What Would You Do Next?\n</question>\n\n<options>\nA. Perform allergy testing and initiate topical steroids\nB. Perform therapeutic penetrating keratoplasty of the right eye\nC. Check serum vitamin A levels\nD. Obtain corneal herpes simplex viral cultures\n</options>\n"
},
{
"role": "assistant",
"content": "C. Check serum vitamin A levels\nThe clinical examination revealed bilateral xerophthalmia, a manifestation of vitamin A deficiency. Thus, serum vitamin A levels should be checked (choice B). While vitamin A deficiency is one of the most common causes of malnutrition in low-income countries, it is rarely seen in high-income countries.In 2009, the World Health Organization estimated that 5.2 million preschool-aged children had night blindness and 190 million had low serum retinol concentrations.1 Those with a serum retinol concentration of less than 20.06 μg/dL (to convert to micromoles per liter, multiply by 0.0349) are vitamin A deficient, and severe deficiency is indicated at levels below 10.03 μg/dL.1 Eye findings include hyperemia, conjunctival and corneal keratinization, and Bitot spots. Yellow or white punctate peripheral retinal lesions may be seen, indicating photoreceptor dysfunction. Pediatric idiopathic intracranial hypertension and nerve atrophy have also been associated with vitamin A deficiency.2,3 Children with ocular signs of vitamin A deficiency have reduced immunity and a higher mortality rate.3,4Children with ASD frequently have nutritional deficits owing to picky eating habits,5 which held true for this patient. His serum vitamin A level was very low at 3.58 μg/dL (normal range, 28.65-94.56 μg/dL ).6The most common ophthalmic symptom of vitamin A deficiency is nyctalopia secondary to rod photoreceptor dysfunction.3 This can be missed in children with ASD, as they may be unable to express difficulty seeing in the dark. Awareness should be raised regarding the possibility of vitamin A deficiency–related corneal ulceration in those with dietary deficiencies.Left untreated, patients with severe disease can go blind within 48 hours.7 The recommended treatment is an immediate oral dose of 200 000 IU vitamin A, followed by the same dose on day 2 and day 14. This is supplemented by 4 to 6 monthly doses of 200 000 IU. Xerophthalmia is reversible within days to weeks of timely supplementation. However, up to 55% of children with ASD and xerophthalmia may have irreversible vision impairment owing to corneal scarring.6Allergy testing and treating with topical steroids (choice A) would be correct for a patient with vernal keratoconjunctivitis (VKC). This patient is a young boy with bilateral ulcers and frequently rubs his eyes, which may suggest the diagnosis. However, VKC would not result in a leathery appearance of the conjunctiva and cornea. The conjunctiva would be hyperemic with giant papillae or Horner-Trantas dots. Furthermore, shield ulcers in VKC are typically located on the upper paracentral portion of the cornea rather than the inferior cornea as seen in this case.8Obtaining a herpes simplex virus (HSV) culture would not be the preferred choice (choice C). HSV keratitis typically presents with dendritic corneal lesions and stromal infiltrates, which this patient did not have. Additionally, bilateral HSV keratitis is rare and seen more in patients with atopy or immune dysfunction.9Therapeutic penetrating keratoplasty (choice D) is not indicated in this patient who does not have a corneal perforation. However, prompt vitamin A supplementation is needed in such cases to prevent this devastating complication. Keratoplasties performed in children have a poorer prognosis.10 This case highlights the importance of a thorough examination, which may require sedation, to evaluate for signs of underlying nutritional deficiencies causing corneal ulceration in children with ASD.The patient started vitamin A supplementation as per World Health Organization guidelines: 200 000 IU on day 1 and day 2, followed by 200 000 IU on day 14. The corneal infiltrates and epithelial defects improved. Stromal thinning in the right eye remained stable. His conjunctival and corneal keratinization improved dramatically within a few days. The patient maintained frequent lubricating drops. He continued dietary supplements with close monitoring by the primary team and hospital nutritionist."
}
] |