Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in two Japanese siblings

Author(s): Yokochi, K., Nakano, M., Wada, Y.

Journal/Book: Neuropediatrics. 1995; 26: PO Box 30 05 04, Rudigerstrasse 14, 70469 Stittgart, Germany. Hippokrates Verlag GmbH. 270-272.

Abstract: 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.

Note: Note S Fujimoto, Nagoya City Univ, Sch Med, Dept Pediat, Mizuho Ku, Mizuho CHO, Nagoya, Aichi 467, Japan

Keyword(s): West syndrome; infantile spasms; PEHO syndrome; optic atrophy; autosomal recessive inheritance; brainstem atrophy; HYPOARRHYTHMIA

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