A Korean Case of Infantile Krabbe Disease with a Novel GALC Gene Mutation / 대한소아신경학회지
Journal of the Korean Child Neurology Society
; (4): 209-214, 2009.
Article
en En
| WPRIM
| ID: wpr-121625
Biblioteca responsable:
WPRO
ABSTRACT
Krabbe disease is a rare autosomal recessive neurodegenerative disorder caused by mutations in the galactocerebrosidase(GALC) gene. The deficiency of GALC activity leads to the accumulation of psychosine, resulting in apoptosis of myelin-forming cells of the central and peripheral nervous system. The patients with typical infantile onset Krabbe disease have extreme irritability, developmental regression, spasticity, and seizures with an onset prior to six months of age. These children usually die within two years after birth. We report a female infant who showed the characteristic clinical manifestations, disease course, and neuroimaging features of infantile onset Krabbe disease that was confirmed by the identification of a compound heterozygous mutation of the GALC gene.
Palabras clave
Texto completo:
1
Índice:
WPRIM
Asunto principal:
Psicosina
/
Convulsiones
/
Apoptosis
/
Sistema Nervioso Periférico
/
Enfermedades Neurodegenerativas
/
Parto
/
Neuroimagen
/
Galactosilceramidasa
/
Leucodistrofia de Células Globoides
/
Espasticidad Muscular
Tipo de estudio:
Prognostic_studies
Límite:
Child
/
Female
/
Humans
/
Infant
Idioma:
En
Revista:
Journal of the Korean Child Neurology Society
Año:
2009
Tipo del documento:
Article