EIF2AK2基因变异致脑白质营养不良1例并文献复习

摘要

<正>脑白质营养不良是一类累及中枢神经系统白质的遗传性异质性疾病，低髓鞘化脑白质营养不良（hypomyelinating leukodystrophies,HLDs）是其中一组以中枢神经系统髓鞘形成减少为主要特征的神经退行性疾病。本文介绍的脑白质病、发育迟缓、发作性神经退行性综合征是一种以儿童早期出现明显的全面发育迟缓，随后出现与感染相关的神经功能退化为特征的临床综合征，受累个体可出现言语障碍、各种运动异常，部分患者可出现癫痫发作，颅脑MRI常显示髓鞘形成不良、胼胝体变薄等。

关键词

癫痫 / EIF2AK2基因变异 / 脑白质病 / 发育迟缓 / 发作性神经退行性综合征

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