伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病的临床特点(附1家系报告)

Clinical features of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (report of 1 family)

目的探讨伴皮质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。方法对1例CADASIL患者及其家系的临床资料进行回顾性分析。结果先证者以大脑皮质下梗死起病,伴有渐进性认知功能障碍。头颅MRI示皮质下多发梗死灶,脑白质疏松。NOTHC3基因检测为第3号外显子Arg110Cys突变,家系调查显示为常染色体显性遗传。结论 CADASIL临床表现主要为缺血性卒中、认知障碍、偏头痛及精神症状。MRI特征性改变是颞极白质T2的异常高信号。NOTCH3基因检查发现突变。

Objective To investigate the clinical features of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy （CADASIL）. Methods Clinical data of a patient with CADASIL and his family were analyzed retrospectively. Results The clinical manifestation of the proband was onset as subcortical infarction, and associated with progressive cognitive dysfunction. MRI showed subcortical multiinfarct lesions and leukoaraiosis. Genetic testing revealed Arg110Cys mutation in the third exon of NOTHC3 gene. Family survey showed autosoma] dominent inherritence. Conclusions Ischemic stroke, cognitive dysfunction, migraine and mental symptom are the common manifestations of CADASIL. The characteristic change of MRI is abnormal high signal intensity on T： in substantia alba of temporal pole. The NOTHC3 gene is mutation.