以椎-基底动脉系统短暂性脑缺血发作为主要临床表现的CADASIL家族

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) manifesting as transient ischemic attack in vertebral basilar artery system

目的 报道一个以椎 -基底动脉系统短暂性脑缺血发作为主要临床表现的常染色体显性遗传性脑动脉病伴皮层下梗死和白质脑病 (CADASIL)家族 ,探讨其临床、影像学以及基因和病理特点。方法 先证者为中年女性 ,出现反复发作的头晕和智能减退。对其进行临床、电生理、影像学分析和腓肠神经病理检查 ,并调查其家族中其他成员的发病情况。家族中连续 3代有 7例发病 ,两性均累及 ,发病年龄在 40～ 50岁之间 ,均反复出现头晕、卒中和痴呆 ,症状呈阶梯性加重。结果 MRI检查显示基底节、丘脑、脑桥、胼胝体及脑室旁白质出现多发腔隙性低密度灶 ,白质疏松 ,累及双侧颞极。腓肠神经活检发现小动脉壁平滑肌细胞变性 ,其表面出现大量的颗粒样嗜锇性物质沉积。Notch3基因检查显示 R60 7C突变。结论 CADASIL可以主要表现为椎 -基底动脉系统的缺血性卒中和痴呆 ,其病理改变主要累及小动脉壁平滑肌细胞。含有小动脉的腓肠神经超微病理检查可能更有利于此病的诊断。

ObjectiveTo expand the phenotypic range of c erebral autosomal dominant arteriopathy with subcortical infarcts and leucoencep halopathy (CADASIL),we described a new Chinese family predominantly presenting post circulatory insufficiency. MethodsWe studied a member of a family with CADASIL clin ically,radiologically and pathologically. There were seven patients in three generation s. Age onset was between 40～50 years old. Most of them showed vertigo and dementia with mild paresis. The proband's father had a history of dementia when he was 50 years old and died 10 years later. MRI revealed homogeneous and nodular lesions in deep white matter and periventricular area extending to the pontine corpus ca llosum as well as temporal pole in proband as well as her sister. ResultsNerve suralis biopsy revealed granular deposits on the surface of smooth muscle cells of artery,whic h was demonstrated granular osmiophilic material within the basement membrane of vascular smooth muscle cells under electron microscopy. The more deposits appear ed,the more severe degeneration in smooth muscle cells. ConclusionThis family demonstrated that Chinese CADASIL can present the post circulation symptoms predominantly. Since the capillaries and veins were not always involved in the disease,examining the artery in sural nerve might be more useful than skin biop sy in diagnosis.