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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。
Objective To report the first autosomal recessive hereditary cerebral artery disease (CARASIL) pedigree with subcortical infarction and white matter lesions in China, and to investigate its clinicopathological features. Methods The clinical, imaging and pathological features of 2 patients were analyzed. The entire exon 2 to 6 of Notch3 on chromosome 19 was sequenced. Results Two patients were siblings and their relatives were married. The age of onset was 25 and 20 years old. The clinical manifestations were balding, acute back pain, progressive cognitive dysfunction, ataxia, pseudobulbar palsy and cone Body beam sign, head MRI showed diffuse white matter lesions of the hemisphere, with subcortical multiple infarcts. Example 1 Sural nerve biopsy showed mild degeneration of the elastic layer in the arterioles, middle layer hypertrophy, central ventricular stenosis, no pelleted deposits in PAS staining, negative staining of starch, and no evidence of electron microscopy in the arteriolar smooth muscle cell layer Osmium particles were found. No mutations were observed in the entire sequencing of exon 2 to 6 of Notch3 on chromosome 19. Conclusions The clinicopathological changes in two cases are consistent with the diagnostic criteria of CARASIL summarized by Fukutake.