1例常染色体显性遗传性脑动脉病的回顾分析  

A Retrospective Analysis of a Case of Autosomal Dominant Cerebral Artery Disease

作　　者：陈泓源 陈杰荣 姚亚男 欧阳峰 罗盈 黎艳湘 甘慧泉 CHEN Hongyuan;CHEN Jierong;YAO Yanan;OUYANG Feng;LUO Ying;LI Yanxiang;GAN Huiquan(Huazhou People’s Hospital,Maoming 525000,China;Department of Clinical Laboratory,Guangdong Provincial People,s Hospital Affiliated to Southern Medical University,Guangzhou 510055,China)

机构地区：[1]化州市人民医院,广东茂名525000 [2]南方医科大学附属广东省人民医院(广东省医学科学院)检验科,广东广州510055

出　　处：《标记免疫分析与临床》2025年第1期216-220,共5页Labeled Immunoassays and Clinical Medicine

基　　金：2024年度基础与应用基础研究专题,优秀博士“续航”项目(编号:SL2023A04J02411)。

摘　　要：易诱发白质脑病及皮下梗死的常染色体显性脑动脉病(CADASIL)是一种由NOTCH3基因突变引起的成年发病的遗传性脑小血管病。CADASIL常引起为脑白质信号升高、多发性脑部腔隙梗塞、微出血等症状。T2加权像、FLAIR像上发现白质高信号病变应考虑本病。CADASIL可导致脑血管及血脑屏障的改变,偶见脑白质疏松(LA)。本文结合相关文献,回顾性分析1例由CADASIL引起的脑白质疏松患者的临床资料、实验室及影像学检查结果和诊疗经过,旨在提高对该疾病的认识。CADASIL(Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary adult-onset small vessel disease of the brain caused by mutations in the NOTCH3 gene. As one of the most common hereditary small vessel diseases of the brain, CADASIL often presents with various degrees of MRI lesions, such as white matter hyperintensities, multiple lacunar infarcts, enlarged perivascular spaces, microbleeds, and newly developed subcortical lacunar infarcts. Among these symptoms, white matter hyperintensities on T2-weighted or FLAIR images are the earliest and most common MRI changes. CADASIL can lead to changes in the cerebral vasculature and blood-brain barrier, occasionally resulting in leukoaraiosis(LA). This paper retrospectively analyzes the clinical data, laboratory and imaging results, and treatment course of a patient with leukoaraiosis caused by CADASIL. Furthermore, we discuss the patient genotype, combining with the latest literature, to enhance the understanding of the underlying mechanism of this disease.

关 键 词：易诱发白质脑病及皮下梗死的常染色体显性脑动脉病 脑白质疏松 宏基因组学第二代测序技术 

分 类 号：R596.1[医药卫生—内科学]