Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO Syndrome) in a Turkish child
Küçük Resim Yok
Tarih
2000
Yazarlar
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