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Late-onset Krabbe's Disease (Globoid Cell Leukodystrophy): A case report
Journal of the Korean Academy of Rehabilitation Medicine ; : 531-536, 2005.
Artículo en Coreano | WPRIM | ID: wpr-722597
ABSTRACT
Krabbe's disease is a rare autosomal recessive disorder characterized by hemiplegia, paraplegia, ataxia, cortical blindness, and peripheral neuropathy. This disease is caused by deficiency of the lysosomal enzyme galactocerebroside beta-galactosidase(GALC), resulting in demyelination of white matter of brain and peripheral nerve. We reported a 38-year-old female developed a slowly progressive weakness of lower extremities and gait disturbance since age of 10. Neurological examination revealed spastic weakness of both lower extremities, hyperactive deep tendon reflexes and intrinsic muscle atrophy of both hands and feet. Electrophysiologic study showed uniform demyelinating sensorimotor peripheral neuropathy. T2-weighted brain MRI (magnetic resonance imaging) findings revealed symmetric high signal intensity along the bilateral corticospinal tract. The diagnosis of Krabbe's disease was confirmed by finding of markedly reduced GALC activity in leukocyte. We recommended to consider Krabbe's disease in the diagnosis of patients affecting both central and peripheral nervous system.
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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Paraplejía / Nervios Periféricos / Tractos Piramidales / Reflejo de Estiramiento / Ataxia / Encéfalo / Imagen por Resonancia Magnética / Atrofia Muscular / Enfermedades Desmielinizantes / Sistema Nervioso Periférico Tipo de estudio: Estudio diagnóstico Límite: Adulto / Femenino / Humanos Idioma: Coreano Revista: Journal of the Korean Academy of Rehabilitation Medicine Año: 2005 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Paraplejía / Nervios Periféricos / Tractos Piramidales / Reflejo de Estiramiento / Ataxia / Encéfalo / Imagen por Resonancia Magnética / Atrofia Muscular / Enfermedades Desmielinizantes / Sistema Nervioso Periférico Tipo de estudio: Estudio diagnóstico Límite: Adulto / Femenino / Humanos Idioma: Coreano Revista: Journal of the Korean Academy of Rehabilitation Medicine Año: 2005 Tipo del documento: Artículo