Abstract

Charcot-Marie-Tooth (CMT) disease is mainly a disease of peripheral nervous system and patients typically present with features of demyelinating neuropathy or axonal neuropathy or both. Rarely patients present with features of central nervous system involvement. Parkinsonism, aphemia and familial epilepsy syndrome have previously come up as case reports in association with CMT type 4 J.We hereby describe a family with 3 siblings affected with CMT4J with homozygous FIG4 mutation who presented with global developmental delay, epilepsy and spastic quadriparesis.

中文翻译：

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Charcot-Marie-Tooth 病 4J 型伴有痉挛性四肢瘫痪、癫痫和整体发育迟缓：三个兄弟姐妹的故事

摘要

Charcot-Marie-Tooth (CMT) 病主要是一种周围神经系统疾病，患者通常表现为脱髓鞘性神经病或轴索性神经病或两者兼有。很少有患者出现中枢神经系统受累的特征。帕金森病、失血症和家族性癫痫综合征以前曾作为与 CMT 4 J 型相关的病例报告出现。我们在此描述了一个家庭，其 3 个兄弟姐妹患有 CMT4J 纯合子FIG4突变，表现为整体发育迟缓、癫痫和痉挛性四肢瘫痪。