We report on two Japanese siblings (one female and one male) with PEHO syndrome (progressive
encephalopathy with edema, hypsarrhythmia, and optic atrophy). They showed profound
generalized hypotonia early in infancy and developed infantile spasms with hypsarrhythmia
within the first year of life. Abnormal eye movement and visual failure with optic
atrophy were also observed early in infancy. Psychomotor development was arrested
and serial neuroradiological studies showed slight progressive brain atrophy, dominantly
of the brainstem. This is the first case report of PEHO syndrome, other than those
dealing with the Finnish population.
West syndrome - Infantile spasms - PEHO syndrome - Optic atrophy - Autosomal recessive
inheritance - Brainstem atrophy
