【摘要】 目的探讨以偏头痛为主要临床特征的伴皮层下梗死和白质脑病的常染色体显性遗传性脑动脉病(cerebral autonomic dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)的病理学改变、影像学特征以及诊断方法。方法选取一临床确诊的CADASIL家系,调查先证者及其家族的发病情况、病程变化及误诊情况;对其临床表现、病理学及影像学等方面进行研究。结果先证者青年起病,早期临床主要表现为反复发作的先兆型偏头痛,进而出现波动渐进性记忆、认知功能减退以及反复发作的缺血性脑卒中。磁共振显示皮层下多发腔隙性或小灶性梗死,以及特征性的颞极白质损害。皮肤血管活检:电镜下见小动脉基底膜增厚,其中存在嗜锇颗粒物质沉积。全家系4代中,已有4代6人呈临床或亚临床发病,符合常染色体显性遗传。结论青年期发病的家族性先兆型偏头痛可能是CADASIL的早期表现,影像学磁共振的特征性表现和皮肤活检发现嗜锇颗粒是确诊该病的重要途径。更多还原

【Abstract】 Objective To investigate the pathologic features,neuroimaging characteristics and diagnostic method of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) ,which is characterized by the main clinical manifestations of migraine.Methods A systematic study on the clinical manifestations,neuroimaging characteristics and pathology was performed. An investigation on the onset of the proband and the disease course of the affected family members was also investigated.Results The main clinical feature of the proband was the migraine accompanied by aura,which was the presenting symptom in the course of disease.Then other clinical manifestations included ischemic stroke,poor memory /cognition or dementia. Neuroimaging examination showed subcortical multi-infarct lesions and leukoencephalopathy in the anterior temporal poles.Electron microscope examination of the skin was performed.Biopsy indicated thickening of basement membrane and presence of granular osmiophilic material (GOM) in the arterioles.There were 6 affected members in the 4 generations of the family.Conclusions The patients suffering from migraine with aura in the juvenescent phase probably undergo CADASIL,and we should define CADASIL clinically by way of studying the neuro-imaging characteristics and skin biopsy.更多还原