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

Küçük Resim Yok

Tarih

2000

Dergi Başlığı

Dergi ISSN

Cilt Başlığı

Yayıncı

Turkish J Pediatrics

Erişim Hakkı

info:eu-repo/semantics/closedAccess

Özet

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.

Açıklama

Anahtar Kelimeler

PEHO syndrome, infantile spasm, optic atrophy, brainstem atrophy

Kaynak

Turkish Journal of Pediatrics

WoS Q Değeri

Q4

Scopus Q Değeri

Q3

Cilt

42

Sayı

3

Künye