遗传代谢性脑血管病是一组与单基因遗传缺陷相关的血管结构异常而致脑血管闭塞或破裂的疾病 ,常通过下列机制导致卒中的出现 ,包括心源性栓塞、大动脉疾病、血液系统异常、小血管病、线粒体异常、离子通道病和结缔组织病累及动脉病变。其诊断常要依赖特征性的临床表现以及同时 Metabolic cerebrovascular disease is a group of diseases associated with vascular structural abnormalities associated with single-gene genetic defects that lead to occlusion or rupture of cerebrovascular disease and often leads to stroke through mechanisms such as cardioembolism, aortic disease, abnormalities of the blood system , Small vessel disease, mitochondrial abnormalities, ion channel disease and connective tissue disease involving arterial lesions. Its diagnosis often depends on the characteristic clinical manifestations and at the same time