CADASIL伴脑出血的临床和基因分析:3例报告

目的:评估常染色体显性遗传性皮质下梗死和白质脑病(CADASIL)伴脑出血(ICH)的临床表现、影像学和基因特征。方法:CADASIL伴ICH患者3例,在Pubmed数据库纳入另外25例有详细资料的患者,评估出血性CADASIL的临床表现、影像学特征和基因突变特点。结果:共纳入患者28例,男19例、女9例,平均年龄(54.2±13.4)岁。高血压病是最常见的危险因素(18例,64.3%),50%的患者曾接受抗栓治疗。10例患者以ICH为首发表现,最常见的出血部位是基底节和脑叶。11号外显子R544C位点是最常见的突变位点(46.2%)。18例患者(64.3%)发现数量不等的微出血灶。结论:CADASIL可发生ICH且可能是首发临床表现。严格控制高血压和谨慎使用抗血栓药可能有助于防止CADASIL患者发生ICH。

Spontaneous Intracerebral Hemorrhage in CADASIL: 3 Case Reports

To evaluate the clinical, radiological, and genetic features of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with intracerebral hemorrhage (ICH) involvement. Methods: Three patients admitted to our hospital with CADASIL who presented with ICH symptoms, and additional 25 cases in the Pubmed database using the MeSH terms CADASIL, intracerebral hemorrhage, leukoencephalopathy, and NOTCH 3 were enrolled. Clinical, radiological, and genetic features of the 28 cases were analyzed. Results: Of the 28 patients, 9 were female and 19 male, and the mean age was (54.2 ± 13.4) years. Hypertension was the most common risk factor and was present in 18 patients (64.3% ). Fifty percent of patients received antithrombotics to prevent ischemic events. ICH was the initial manifestation in 10 patients, and the most frequent sites of ICH were the basal ganglia and brain lobes. R544C in exon11 was the most prevalent mutation (46.2%). Cerebral microbleeds varying in number were found in 18 patients (64.3% ). Conclusion: ICH may present in CADASIL patients and may be the initial clinical symptom. In addition, strict control of hypertension and cautious use of antithrombotics may be important in the prevention of ICH in CADASIL patients.