伴皮层下梗死和白质脑病的常染色体显性遗传性脑动脉病一例报告

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.

A case of CADASIL manifested as multiple sclerosis with literature review

Objective To report a case of cerebral autosomal dominat arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL),which has been misdiagnosed as multiple sclerosis.Methods The patient was a 47- year-old woman who had dizzy and recurrent limb palsy for 6 years,and cognition decline for 1 year.After careful investi- gating the familial history,sural biopsy and gene analysis confirmed the diagnosis of CADASIL.Results The sural nerve biopsy of the patient showed typical granular osmiophilic material(GOM)on the smooth muscle cell surface of the per- ineural arterioles.Gene analysis revealed Cys117Arg mutation in the Notch3 gene.Conclusions When a juvenile patient has recurrent stroke and dementia,clinicians should trace the familial history carefully.Sural nerve biopsy and gene anal- ysis should be done to avoid misdiagnosis of CADASIL.