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目的总结貌似多发性硬化的皮层下梗死和白质脑病的常染色体显性遗传性脑动脉病(CADASIL)的临床特点。方法报告1例经基因检查和周围神经活检确诊为CADASIL的临床资料。结果患者腓肠神经活检可见有髓神经纤维密度轻度减少,电镜下可见神经束膜小动脉中层平滑肌细胞外大量颗粒性电子致密嗜锇颗粒物质(GOM)沉积。基因检测显示Notch3基因4号外显子Cys117Arg突变。结论为避免CADASIL的漏诊及误诊,凡遇青年反复脑卒中发作．又无高血压、糖尿病等常见的血管病危险因素,虽无偏头痛病史,亦应注意追问家族史并做基因检测和周围神经活检。
Objective To summarize the clinical features of autosomal dominant cerebral artery disease (CADASIL) that looks like multiple sclerosis in subcortical infarcts and leukoencephalopathy. Methods One case of CADASIL was diagnosed by genetic examination and peripheral nerve biopsy. Results The density of myelinated nerve fiber was slightly reduced in the sural nerve biopsy. The deposition of a large amount of granular electron-dense osmiophilic granulocytes (GOM) outside the SMMCs under the electron microscope. Gene test showed that the Notch3 gene Exon 4 Cys117Arg mutation. Conclusion In order to avoid the misdiagnosis and misdiagnosis of CADASIL, all young people suffered from recurrent stroke. And no hypertension, diabetes and other common risk factors for vascular disease, although no history of migraine headaches, should also pay attention to ask the family history and genetic testing and peripheral biopsy.