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(附一例报告及文献复习)

目的 提高对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(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy，CADASIL)临床特点和诊断方法的认识。方法 对2003年4月7日收治的1例CADASIKL患的临床表现、影像学特点及皮肤活检结果等临床资料进行回顾性分析。结果 主要临床表现为偏头痛、记忆力下降，头部MRI检查可见皮质下梗死、脑白质变性；皮肤活检电子显微镜显示小血管内皮下出现嗜锇酸颗粒。结论 对出现反复发作性偏头痛的中年人，MRI检查示皮质下白质或基底节区长T1、长T2异常信号，应高度怀疑为CADASIL，需进一步行皮肤活检及基因检测，以明确诊断。

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy:one case report and review of the literature

Objective To improve the understanding of the clinical characteristics and diagnostic approaches in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Methods Retrospective study was performed. The clinical manifestations, imaging characteristics and skin biopsy of one patient with CADASIL admitted in this hospital were analyzed. Results The main clinical manifestations were migraine and poor memory. The cerebral MRI showed subcortical white matter infarct and leukoencephalopathy. The subendothelial osmiophilic granules of small vessels were found in skin biopsy specimen under electron microscopy. Conclusion The CADASIL should be highly suspected in those middle aged adults with recurrent migraine, and demonstration of long T1 and T2 abnormal signals in the areas of subcortical white matter or basal ganglia in MRI. Further examination of skin biopsy and genetic analysis are necessary for confirming diagnosis.