| Period | 0000-00-00~0000-00-00 |
|---|---|
| Diagnosis | |
| Clinical information | 37세 여자, left side weakness로 내원. |
| Discussion | [정답] CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarct and Leukoencephalopathy) 1) Hereditary small vessel disease (mutation in Notch3 gene of chromosome19) 2) Clinical & imaging findings Recurrent subcortical ischemic strokes Subcortical lacune & leukoencephalopathy in young adult Anterior temporal pole & external capsule: specific for CADASIL Normal on DSA 3) D/Dx Sporadic subcortical arteriosclerotic encephalopathy, MELAS, Primary angiitis of the CNS 4) Dx: No laboratory screening tests except for a mild elevation of CSF protein in 25% of cases, EM studies with a skin biopsy |
| Correct answer |
Correct AnswerSemi-Correct Answer |