Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in a Turkish child

We report a Turkish boy with PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy). He had generalized hypotonia and abnormal eye movements during early infancy. Infantile spasms were seen in the second year of life. Arrest of psychomotor development and blindness...

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Bibliographic Details
Published in:	Turkish journal of pediatrics Vol. 42; no. 3; p. 246
Main Authors:	Tekgül, H, Tütüncüoğlu, S
Format:	Journal Article
Language:	English
Published:	Turkey 01-07-2000
Subjects:	Abnormalities, Multiple - diagnosis Child, Preschool Edema - diagnosis Humans Infant Male Neurodegenerative Diseases - diagnosis Optic Atrophy - diagnosis Spasms, Infantile - diagnosis Syndrome Turkey Turkey
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Summary:	We report a Turkish boy with PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy). He had generalized hypotonia and abnormal eye movements during early infancy. Infantile spasms were seen in the second year of life. Arrest of psychomotor development and blindness were noticed early in childhood. Serial magnetic resonance imaging revealed progressive infratentorial atrophy with association of cortical atrophy and corpus callosum hypoplasia. This is an additional case of PEHO syndrome, to our knowledge the first such case from Turkey.
ISSN:	0041-4301