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(附1例报道)

目的　探讨伴有皮层下梗死和白质脑病 (Cerebralautonomicdominantarteriopathywithsubcorti calinfarctsandleukoencephalopathy ,CADASIL)的常染色体显性遣传性脑动脉病的临床特点和诊断方法。 方法　对 1例CADASIL患者的临床表现、影像学 (MRI、CT)特点及皮肤活检等方面进行了探讨。结果　患者临床表现为反复发作的缺血性脑卒中、记忆力减退、假性球麻痹、MRI、CT见皮质下梗死和白质脑病的改变 ,皮肤活检显示小动脉含糖原颗粒 ,管腔狭窄 ,血管内皮下黑色嗜锇颗粒。结论　通过本病的临床特点、影像学和皮肤活检 ,可在生前进行诊断。

Cerebral autonomic dominant arteriopathy with subcortical infarcts and leukoencephalopathy (one case report)

Objective To investigate the cerebral autonomic doninate arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) through the clinical features, pathology and neuroimage.Methods Systematic study of one case on the clinical manifestations, neuroimage and skin biopsy was performed.Results The main clinical features included recurrent ischemic stroke, poor memory and pseudo-bulbar palsy, Neuroimaging examination showed widespread subcortical infarcts and leukoencephalopathy.Skin biopsy indicated the arterial thickening, eosinophilic granular deposit in microscopy and granular osmophilic material in arteries by electron microscopy.Conclusions CADAIL is not rare and is possible to be defined in vivo by skin biopsy.