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 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.
Tekgül
H
H
Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey.
Tütüncüoğlu
S
S
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002675:Child, Preschool; D004487:Edema / Q000175:diagnosis; D006801:Humans; D007223:Infant; D008297:Male; D019636:Neurodegenerative Diseases / Q000175:diagnosis*; D009896:Optic Atrophy / Q000175:diagnosis; D013036:Spasms, Infantile / Q000175:diagnosis; D013577:Syndrome; D014421:Turkey