Skehan S J, Hutchinson M, MacErlaine D P
Department of Diagnostic Imaging, St Vincent's Hospital, Dublin, Ireland.
AJNR Am J Neuroradiol. 1995 Nov-Dec;16(10):2115-9.
To describe the MR appearances of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
MR examinations were performed on 15 family members (both symptomatic and asymptomatic). The phenotype was defined by the presence of abnormalities on MR scanning in genetically susceptible individuals.
There were 10 abnormal and 5 normal MR scans. Three subjects with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy had moderate or severe neurologic deficits, 4 had transient focal neurologic symptoms, 2 had migraine, and 1 was asymptomatic (all these had abnormal MR scans). Only 1 subject with migraine had a normal MR. Four other asymptomatic family members had normal scans. Two main abnormalities emerged. 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.
The diffuse myelin loss and small infarcts that cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy are well demonstrated with MR. Presymptomatic abnormalities can be seen on MR.
描述伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）的磁共振成像（MR）表现。
对15名家族成员（包括有症状和无症状者）进行了MR检查。通过对基因易感性个体进行MR扫描，根据是否存在异常来定义表型。
15例MR扫描中，10例异常，5例正常。3例患有CADASIL的患者有中度或重度神经功能缺损，4例有短暂性局灶性神经症状，2例有偏头痛，1例无症状（所有这些患者的MR扫描均异常）。只有1例偏头痛患者的MR扫描正常。另外4例无症状家族成员的扫描结果正常。出现了两种主要异常。首先，在脑室周围白质、脑干、基底节和丘脑发现了小的、线性的和点状病变。其次，皮质下区域出现大片融合的异常组织，这些区域通常是对称的，且倾向于出现在颞叶。
MR能很好地显示导致CADASIL的弥漫性髓鞘脱失和小梗死灶。在MR上可以看到症状前的异常表现。
