【摘要】 目的报道中国第一个伴有皮质下梗死和白质病变的常染色体隐性遗传性脑动脉病(CARASIL)家系,探讨其临床病理特征。方法对2例患者的临床、影像及病理特征进行分析,并对第19号染色体 Notch3的2～6外显子全段测序。结果 2例患者系同胞姐弟,父母系近亲结婚,发病年龄分别为25、20岁,临床均表现为秃顶、急性腰痛、进行性认知功能障碍、共济失调、假性延髓性麻痹及锥体束征,头颅 MRI 均表现为大脑半球弥漫性白质病变,伴皮质下多发梗死灶。例1腓肠神经活体组织检查可见小动脉内弹力层轻度分裂、中层肥厚、血管腔呈向心性狭窄,PAS 染色未见颗粒状沉积物,淀粉染色阴性,电镜下在小动脉平滑肌细胞层没有发现嗜锇颗粒。对第19号染色体 Notch3的2～6外显子全段测序未观察到突变。结论 2例病例的临床病理改变符合 Fukutake 总结的CARASIL 的诊断标准。更多还原

【Abstract】 Objective To report the first family of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy(CARASIL)in China,and to explore its clinicopathological characteristics.Methods The clinical,imaging and pathological findings of the two patients were studied, and the sequence of the exons from 2 to 6 on Notch 3 in the chromosome 19 was detected.Results Two siblings were born from consanguineous parents.The ages at onset were 25 and 20 years old,respectively. Clinically,both of the patients were characterized by alopecia,acute lumbago,progressive intellectual deterioration,ataxia,pseudobulbar palsy and pyramidal tract signs.MRI demonstrated diffuse leucoencephalopathy and multiple subcortical infarcts on both hemisphere.The sural nerve biopsy on the elder sister demonstrated concentric thickening of vascular wall,narrowing of the lumen and mild fibrous proliferation of the intima.There were no amyloid,PAS granular deposition and uhrastructural granular osmiophilic material on the vascular wall.No mutation of exons from 2 to 6 on Notch 3 in the chromosome 19 was found by direct sequence.Conclusion The clinicopathological findings of the two patients fulfill the diagnostic criteria based on Fukutake.更多还原