RESUMEN
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy(PEHO) syndrome was first described in 1991 by Salonen. It is a rare, autosomal recessive, and severe neurodegenerative disease with onset in early infancy and guarded prognosis. The distinct clinical criteria for the PEHO syndrome are infantile hypotonia, convulsion, early arrest of mental development, poor or absent visual fixation with optic atrophy by 2 years of age and progressive brain atrophy, particularly of the cerebellum and the brainstem. Most of reported patients with PEHO syndrome are Finnish, and only very few patients in other countries including Japan, Canada and Netherlands have been described. I report a Korean girl with the distinct clinical features of PEHO syndrome and this child is the first Korean patient reported.