Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy(CADASIL) is a common hereditary disease caused by NOTCH3 gene. The major clinical manifestations include recurrent small-vessel ischaemic events, migraine, dementia and mood disturbance. Herein, we report a 32-years-old male presented with right leg weakness and persistent migraine. We carried out neurological exams, genetic testing, blood and cerebrospinal fluid analysis (CSF) as well as magnetic resonance imaging (MRI) for the brain and spinal cord. There were no anti-aquaporin-4 antibodies and oligoclonal bands in the CSF and blood investigations were within the normal range. MRI scans revealed multiple hyperintense regions in the brain and longitudinally hyperintense signal in spinal cord. Further, we identified a c.383G>A(p.Cys128Tyr) mutation in NOTCH3 gene. Therefore, the patient was diagnosed with CADASIL concurrent with spinal cord lesion. The patient's condition slightly improved after two weeks treatment with daily dosage of 0.5 g citicoline and 75 mg clopidogrel.
[1]Jilin Univ, Dept Neurol, Neurosci Ctr, Teaching Hosp 1, 71 Xinmin St, Changchun 130021, Jilin, Peoples R China.
[2]Jilin Univ, Teaching Hosp 3, Changchun, Jilin, Peoples R China.
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