CADASIL患者脑微出血分布特征及临床意义

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 dominantarteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL）患者脑微出血（cerebralmicrobleeds,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。

Topographic Characteristic and Clinical Significance of Cerebral Microbleeds in Patients with CADASIL

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 CADASILgroup (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.