脑小血管病

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(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)患者脑微出血(cerebral microbleeds,CMBs)的分布特征及临床意义。方法回顾性纳入2017年6月-2019年12月北京协和医院基因确诊的连续CADASIL患者21例(CADASIL组),以及性别匹配的高血压动脉硬化性脑小血管病患者21例(高血压脑小血管病组)。所有患者均行头MRI检查(含T2^*/SWI序列),盲法读片并记录CMBs的数量和部位,分析两组CMBs分布的差异。结果CADASIL组年龄和常见血管病危险因素比例均低于高血压脑小血管病组。CADASIL组47.6%患者检出CMBs(共计115个),而高血压脑小血管病组高达95.2%(共计218个)。CADASIL组CMBs分布以丘脑最常受累(45.2%),其次是脑叶(皮层/皮层下,35.7%)、基底节(11.3%)。高血压脑小血管病组则以丘脑以外的基底节CMBs最多见(35.3%),其次是脑叶(26.6%)、丘脑(19.2%)、脑干(16.1%)。CADASIL患者丘脑CMBs/总CMBs比例、丘脑CMBs/(基底节CMBs+脑干CMBs)比例均高于高血压脑小血管病组(均P<0.001)。结论CADASIL患者CMBs分布以丘脑最常见,其次是皮层/皮层下区域,而高血压脑小血管病患者则以丘脑以外的基底节、脑干更常见。

Cerebral Small Vessel Disease

Objective To identify the topographic characteristics of cerebral microbleeds in Chinese patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL).Methods Twenty-one genetically confirmed CADASIL patients and 21 gender-matched patients with hypertensive-cerebral small vessel disease(CSVD)from Peking Union Medical College Hospital between June 2017 and December 2019 were included in this retrospective analysis.Demographic data including cerebral MRI T2^* or SWI sequence were reviewed.The presence,number and distribution of cerebral microbleeds(CMBs)of all patients were analyzed.Results The patients with CADASIL were much younger than those with hypertensive-CSVD,and CADASIL patients had a lower percentage of diabetes and hyperlipidemia.CMBs(n=115)were present in 47.6%of patients with CADASIL,most commonly occurring in thalamus(45.2%),followed by cerebral lobe(cortical/subcortical regions,35.7%)and basal ganglia(11.3%).CMBs(n=218)were observed in 95.2%of patients with hypertensive-CSVD,with a predominance in basal ganglia(35.3%),followed by cerebral lobe(26.6%),thalamus(19.2%),brain stem(16.1%).Of note,compared with hypertensive-CSVD group,both the ratio of thalamus CMBs/total CMBs and that of thalamus CMBs/(basal ganglia CMBs+brain stem CMBs)were significantly higher in CADASIL group(both P<0.001).Conclusions CMBs in CADASIL patients were predominantly located in thalamus,followed by cortical/subcortical areas,while the CMBs in patients with hypertensive-CSVD were mainly located in the basal ganglia and brain stem.