目的：探讨伴皮层下梗死和白质脑病的常染色体显性遗传性脑病(CADASIL)家系的核磁共振（MRI）特点,提高对本病脑内MRI表现的认识。方法记录该CADASIL家系先证者及其亲属的临床表现及影像学检查，并行NOTCH3基因检测。结果本组6例中5例检出NOTCH3基因第14外显子C2182T突变，其中3例与MRI初诊结果一致。头颅核磁共振显示双侧额叶皮层下与侧脑室旁白质内广泛融合的病灶，基本对称性分布的稍长T1T2信号，T2 FLAIR呈高信号者4例；外囊T2WI呈高信号3例；基底节区、丘脑腔隙性梗死4例；脑干T2WI呈高信号2例；脑内微出血3例；未见双侧颞极白质病灶(O’Sullivin征）。结论 CADASIL病例MRI存在特征性的病变，MRI对该病的诊断有重要作用。%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.
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