Neurologic manifestations of Kanzaki disease.
Neurology
; 62(9): 1604-6, 2004 May 11.
Article
en En
| MEDLINE
| ID: mdl-15136691
ABSTRACT
We describe the neurologic findings in a patient with alpha-N-acetylgalactosaminidase deficiency (Kanzaki disease). Clinical and electrophysiologic studies revealed sensory-motor polyneuropathy, and sural nerve pathology showed decreased density of myelinated fibers with axonal degeneration. The patient had mildly impaired intellectual function with abnormal brain MRI and sensory-neuronal hearing impairment with repeated episodes of vertigo attacks. These findings suggest that Kanzaki disease may develop neurologic complications in the CNS and peripheral nervous system.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Encefalopatías
/
Enfermedades del Sistema Nervioso Periférico
/
Enfermedades por Almacenamiento Lisosomal del Sistema Nervioso
/
Hexosaminidasas
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Adult
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Neurology
Año:
2004
Tipo del documento:
Article
País de afiliación:
Japón