PEHO综合征诊疗新进展

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,早发性癫痫发作,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 (PEHO) 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 neuroradiological findings has been described 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 syndrome,and aims to provide assistance for future clinical work.