目的：探讨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疾病（ CADASIL）的临床表现和MRI特点。方法对1例CADASIL患者进行影像学检查、基因检测和皮肤活检，综合分析其临床和影像学特点。结果患者表现为脑卒中发作，先兆性偏头痛。影像学特点为多发皮质下梗死灶，侧脑室旁白质多发斑点状异常信号，外囊、前颞区和胼胝体为特征性受累部位。基因检测为Notch3基因第4号外显子上c.400T＞G突变。皮肤活检可见颗粒样嗜锇物质（ GOM）沉积。结论 CADASIL临床表现主要为缺血性卒中、认知障碍、偏头痛及精神症状。MRI特征性改变是颞极白质T2的异常高信号。%Objective To investigate the clinical manifestations and MRI features of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ( CADASIL ). Methods A systematic study of one case on imaging examination,genetic test and skin biopsy was performed,in order to analyze the clinical and imaging characteristics. Results The clinical manifestations of the proband were stroke and migraine with aura. MRI showed multiple subcortical infarcts,multiple punctate abnormal signals in the white matter of lateral ventricle,and affected areas being capsula externa, anterior temporal area and corpus callosum. Genetic testing showed c. 400 T>G mutation in the exon 4 of the Notch3 gene. Skin biopsies showed the deposit of granular osmiophilic material( GOM). Conclusion Ischemic stroke,cognitive dysfunction, migraine and mental symptoms are the common clinical manifestations of CADASIL. The characteristic change of MRI is abnormally high T2 in the white matter of temporal pole.
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