CADASIL患者脑微出血分布特征及临床意义

doi:10.3969/j.issn.1673-5765.2020.04.003

摘要/Abstract

摘要：

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。

文章导读： 熟悉CADASIL和动脉硬化性脑小血管病CMBs分布特点和差异，有助于临床影像辅助诊断缺乏典型白质高信号特征的CADASIL，对于临床诊断不典型白质高信号的病因具有重要意义。

关键词: 微出血; 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; 高血压; 脑小血管病

Abstract:

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.

Key words: Cerebral microbleed; CADASIL; Hypertension; Cerebral small vessel disease

姚明，周立新，朱以诚，彭斌，倪俊. CADASIL患者脑微出血分布特征及临床意义[J]. 中国卒中杂志, 2020, 15(04): 343-348.

YAO Ming, ZHOU Li-Xin, ZHU Yi-Cheng, PENG Bin, NI Jun. Topographic Characteristic and Clinical Significance of Cerebral Microbleeds in Patients with CADASIL[J]. Chinese Journal of Stroke, 2020, 15(04): 343-348.

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