重视遗传性脑小血管病卒中的诊治

Improving the understanding of stroke with hereditary cerebral small vessel disease

遗传性脑小血管病卒中为罕见病,表现为中青年起病的缺血性腔隙或出血性脑卒中,典型的头部影像改变包括腔隙、白质高信号、微出血、脑叶及深部血肿、皮质微梗死及扩大的血管周围间隙等。其致残率高,与散发性脑小血管病的临床表现及影像改变均有较多重叠,临床鉴别比较困难。该文总结了遗传性脑小血管病卒中的临床特点、获取有价值的家族史的重要性、遗传诊断及如何管理患者,旨在提高临床医师的诊断准确率。

Stroke with hereditary cerebral small vessel diseases is a rare disease.Its clinical manifestations include early-onset ischemic lacunar or hemorrhagic stroke with high disability.Its typical imaging markers include lacunes,white matter hyperintensities,microbleeds,intracerebral hemorrhages located in deep or lobe of brain,crotical microinfarcts,and enlarged perivascular spaces.As the clinical and neuroimaging signs and symptoms of hereditary cerebral small vessel diseases often overlap with sporadic cerebral small vessel diseases,it is hard to diagnose.This article summarizes the clinical features,importance of obtaining valuable family history,genetic diagnosis,and management of stroke with hereditary cerebral small vessel disease to improve its accuracy diagnosis.