PEHO综合征诊疗新进展  

Recent advances in diagnosis and treatment of PEHO syndrome

作　　者：刘菁[1] 牛悦 童丽丽[1] 宋双双 李艳 孙若鹏[1] 李保敏[1] Liu Jing, Niu Yue, Tong Lili, Song Shuangshuang, Li Yan, Sun Ruopeng, Li Baomin(Department of Pediatrics, Qilu Hospital of Shandong University, Jinan 250012, China ; Department of Infection, Qilu Children＇s Hospital of Shandong University, Jinan 250022, China ; Shenzhen Zeneca biotechnology co. LTD, Shenzhen 518118, China)

机构地区：[1]山东大学齐鲁医院儿科,济南250012 [2]山东大学齐鲁儿童医院感染科,济南250022 [3]深圳市捷利康科技生物有限公司,518118

出　　处：《中国医师杂志》2018年第9期1292-1294,共3页Journal of Chinese Physician

基　　金：国家重点研发计划(2016YFC1306202);山东省重点研发计划(2016GSF201073);山东大学齐鲁医院面上项目(2015QLMS08)~~

摘　　要：进行性脑病伴水肿,高度失律脑电图和视神经萎缩综合征(PEHO)是一种独特的神经发育障碍。临床特征主要包括严重发育迟缓,早发性癫痈发作,视神经/小脑萎缩,手脚水肿和生命早期死亡。没有视神经萎缩和脑成像异常但符合其他PEHO标准的患者通常被描述为PEHO样综合征。目前,国内对该病的详细报道较少。因此,本文对该病的发病率、病因、疾病特点、相关基因进行总结,希望能够为以后的临床工作提供帮助。The progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy （PE- HO） syndrome is a unique pediatric neurodevelopmental disorder, characterized by a combination of severe mental retardation, early onset epileptic seizures, pedal edema, optic/cerebellar atrophy, and early death. The affected individuals have neither optic atrophy nor the typical neuroradiologieal findings has been de- scribed as PEHO-like syndrome. At present, there are few reports about PEHO syndrome in China. In this study, we summarizes the incidence, etiology, clinical manifestations, and related genes of PEHO syn- drome, and aims to provide assistance for future clinical work.

关 键 词：脑水肿 视神经萎缩 痉挛 婴儿 神经变性疾病 综述 

分 类 号：R748[医药卫生—神经病学与精神病学]