CADA7SIL磁共振表现

目的：探讨皮层下梗死伴白质脑病的常染色体显性遗传性脑动脉病（CADASIL）的磁共振表现.材料与方法：回顾性分析有临床症状的一家系三兄弟患者资料,分析其MRI信号改变、发病部位和预后.结果：3名CADSSIL患者具有或轻或重神经缺失,MRI表现均异常.第一,脑室旁周围白质、脑干、基底节区和丘脑出现多发腔隙性梗塞;第二,脑白质病出现在皮层下区域,具有对称并相互融合的趋势,其中以颞叶多见.第三,同时伴有脑萎缩.结论：结合MRI表现（皮层下弥漫对称脱髓鞘和腔隙性脑梗塞）和家族史可诊断CADASIL此病.

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: MR Findings

Purpose： To describe the MR appearances of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Materials and Methods： MR examinations were performed on 3 family members （both symptomatic ）. MRI features of 3 members of CADASIL were retrospectively studied, focusing on the MRI signal, lesions location and the prognosis. Results： Three subjects with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy had moderate or severe neurologic deficits, all these had abnormal MR scans. First, small, linear, and punctate lesions were identified in the periventricular white matter, brain stem, basal ganglia, and thalamus. Second, large confluent patches of abnormal tissue were present in subcortical regions that often were symmetric and had a tendency to occur in the temporal lobes. Third, An atrophy of the brain was showed. Conclusion： It may be diagnosed a CADASIL if we combine the MRI findings（the diffuse myelin loss and small infarcts） with family history.