Recent advances in diagnosis and treatment of PEHO syndrome / 中国医师杂志

ABSTRACT

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.