ABSTRACT
Objective To analysis the MRI features of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), to improve the understanding of MRI manifestations of this disease. Meth?ods The clinical manifestations, neuroimaging analysis and genetic analysis were performed in the CADASIL pedigree proband and his families. Results Five of six cases were confirmed with C2182T mutation on exon 14 of the NOTCH3, of which three cases were diagnosed by MRI. Brain MRI findings included bilateral symmetric distributed confluent lesions in the subcortical and periventricular white matter in the frontal lobe, hypointensity on T1WI and hyperintensity on both T2WI and T2 FLAIR imaging in four cases. The external capsule was involved in three cases, with hyperintensity on T2WI. Subcortical lacunar lesions (SLLs) were shown in three cases. Lacunar infarction in the basal ganglia and thalamus were presented in four cases. T2WI hyperintensity at the brain stem was found in two cases. Cerebral microbleeds were re?vealed in three cases. There was no O’Sullivan sign in all the six cases. Conclusions There is characteristic change of MRI in CADASIL patients, which may play a very important role in screening these cases.