A Case of PEHO Syndrome / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 192-198, 2007.
Artículo
en Coreano
| WPRIM
| ID: wpr-127707
ABSTRACT
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy(PEHO) syndrome was first described in 1991 by Salonen. It is a rare, autosomal recessive, and severe neurodegenerative disease with onset in early infancy and guarded prognosis. The distinct clinical criteria for the PEHO syndrome are infantile hypotonia, convulsion, early arrest of mental development, poor or absent visual fixation with optic atrophy by 2 years of age and progressive brain atrophy, particularly of the cerebellum and the brainstem. Most of reported patients with PEHO syndrome are Finnish, and only very few patients in other countries including Japan, Canada and Netherlands have been described. I report a Korean girl with the distinct clinical features of PEHO syndrome and this child is the first Korean patient reported.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Pronóstico
/
Atrofia
/
Convulsiones
/
Espasmos Infantiles
/
Encéfalo
/
Tronco Encefálico
/
Canadá
/
Cerebelo
/
Atrofia Óptica
/
Enfermedades Neurodegenerativas
Tipo de estudio:
Estudio pronóstico
Límite:
Niño
/
Femenino
/
Humanos
/
Lactante
/
Recién Nacido
País/Región como asunto:
America del Norte
/
Asia
/
Europa
Idioma:
Coreano
Revista:
Journal of the Korean Child Neurology Society
Año:
2007
Tipo del documento:
Artículo
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