A Case of Krabbe Disease / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 411-415, 2001.
Artículo
en Coreano
| WPRIM
| ID: wpr-215594
ABSTRACT
Krabbe disease is an autosomal recessive neurodegenerative disorder that affects both the central and peripheral nerve system due to an enzymatic defect of galactocerebroside bata-galactosidase. The patient had typical clinical features of Krabbe disease, with irritability, hypertonicity, failure to thrive, and opisthotonic posturing. A brain MRI demonstrates profound white matter demyelination. The diagnosis of Krabbe disease is suspected on the basis of clinical pictures and confirmed by finding markedly reduced galactocerebroside bata-galactosidase activity in leukocyte or cultured fibroblast. Here we present the first reported case of Krabbe disease in Korea confirmed by decreased activity of galactocerebroside bata-galactosidase enzyme in leukocyte.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Nervios Periféricos
/
Encéfalo
/
Imagen por Resonancia Magnética
/
Enfermedades Desmielinizantes
/
Enfermedades Neurodegenerativas
/
Diagnóstico
/
Insuficiencia de Crecimiento
/
Fibroblastos
/
Corea (Geográfico)
/
Leucocitos
Tipo de estudio:
Estudio diagnóstico
Límite:
Humanos
País/Región como asunto:
Asia
Idioma:
Coreano
Revista:
Journal of the Korean Child Neurology Society
Año:
2001
Tipo del documento:
Artículo
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