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患者大脑中动脉闭塞血管内治疗1例并文献复习

Endovascular Treatment of Middle Cerebral Artery Occlusion in Patient with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy:A Case Report and Literature Review

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(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)是NOTCH3基因突变所致的遗传性脑小血管病,主要病变血管为颅内小动脉,累及大脑皮质和颅内大/中动脉的报道较罕见,目前缺乏特效治疗方法。本文报道1例大脑中动脉急性闭塞成功接受血管内治疗的CADASIL病例,并结合文献进行讨论,旨在引起临床医师对CADASIL可累及大脑皮质和颅内大/中动脉的重视。

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL)is a hereditary cerebral small vessel disease caused by mutations in the NOTCH3 gene.The main vascular pathological changes in CADASIL are intracranial small arteries,with rare reports of involvement in the cerebral cortex and intracranial large/middle arteries.There is currently a lack of specific treatment for CADASIL.This paper reported a case of CADASIL patient who successfully received endovascular treatment for acute occlusion of middle cerebral artery,and discussed the literature with the aim of raising clinical awareness of the potential involvement of CADASIL in the cerebral cortex and intracranial large/middle arteries.