3例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影像学表现  

Case report of imaging findings of 3 cases of CADASIL

作　　者：何德海 王明琦[1] HE De-hai;WANG Ming-qi(Ganzhou People's Hospital,Ganzhou,Jiangxi 341000)

机构地区：[1]赣州市人民医院,江西赣州341000

出　　处：《赣南医学院学报》2024年第7期712-714,718,共4页JOURNAL OF GANNAN MEDICAL UNIVERSITY

摘　　要：目的:分析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 infacts and leukoencephalopathy,CADASIL)影像学演变过程。方法:收集经基因检测确诊的3例CADASIL患者影像学检查资料,分析颅脑磁共振病变演变过程。结果:CADASIL患者MRI主要显示白质高信号(White matter hyperintensities,WMH)、腔隙性梗死、微出血、脑萎缩。本文患者WMH病变双侧对称分布,颞极和外囊是WMH的好发部位,颞极病变出现早于外囊,但病变以侧脑室旁和半卵圆中心最严重,随着病情进展,病变由多灶性分布进展为弥漫性分布;腔隙性梗死好发部位为丘脑、基底节区、外囊、半卵圆中心等部位。结论:CADASIL患者磁共振出现病灶可早于临床表现数年,甚至数十年;出现白质高信号病变早于腔隙性梗死,颞极病灶在MRI中出现最早,且具有很强的特异性。Objective:To analyze the evolution of cerebral autosomal dominant arteriopathy with subcortical infacts and leukoencephalopathy(CADASIL)imaging.Methods:Imaging studies of three patients with CADASIL diagnosed by genetic testing were collected to analyze the evolution of cranial magnetic resonance lesions.Results:MRI in patients with CADASIL mainly showed white matter high signal(WMH),lacunar infarction,microhemorrhage,and brain atrophy.In this paper,WMH lesions were distributed bilaterally and symmetrically,and the temporal pole and external capsule were the predilection sites of WMH;temporal pole lesions appeared earlier than the external capsule,but the lesions were most severe in the paraventricular and semiovoid centers.As the disease progressed,the lesions progressed from a multifocal distribution to a diffuse distribution.The thalamus,the basal ganglia region,the external capsule,the semiovoid center were the predilection sites of lacunar infarcts.Conclusion:Lesions appearing on MRI in patients with CADASIL can precede clinical presentation by years or even decades;white matter high signal lesions appear earlier than lacunar infarcts,and temporal pole lesions are the earliest to appear on MRI with a high degree of specificity.

关 键 词：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 脑白质病变 腔隙性梗死 病例报告 

分 类 号：R743[医药卫生—神经病学与精神病学]