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. Key words: Brain edema; Optic atrophy; Spasms, infantile; Neurodegenerative diseases; Review
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