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Case No. 504
2019-01-01~2019-01-31
출제자 : 박지은
Hit : 575
| Period | 2019-01-01~2019-01-31 |
|---|---|
| Diagnosis | Adult Onset Alexander Disease |
| Gender |
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| Age | 42 |
| Clinical information | 2년전부터 시작된 삼킴 장애, 신경과 검사상 glossopharyngeal neuralgia로 내원한 42세 여환이다. 진단은? |
| Discussion | Adult Onset Alexander Disease 설명) 1. Introduction Glial fibrillary acidic protein gene mutation Pathologic hallmark- Rosenthal fibers (eosinophilic inclusions localized in astrocyte cytoplasm) Adult onset (> 12 yr): different clinical and radiological presentation with early-onset, mainl concentrated in the brainstem-spinal cord junction - Onset as late as 62 years old - Sporadic > familial - Presentation: bulbar dysfunction (dysarthria, dysphagia, dysphonia), cerebellar ataxia 2. MR findings * highly characteristic even leading to identification of asymptomatic disease - Tadpole atrophy (올챙이모양): atrophy of the medulla and cervical spinal cord with relative sparing of pons - cerebellar/dentate involvement (frequently, hilum of dentate nucleus) - garland-like feature along the ventricular wall (ependymal nodularity) - abnormality in brain stem, middle cerebellar peduncle, spinal cord, cerebral white matter |
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Correct Answer
Semi-Correct Answer |