Juvenile multiple sclerosis-like episodes associated with a defect of mitochondrial beta oxidation.
Neurology
; 40(3 Pt 1): 487-91, 1990 Mar.
Article
en En
| MEDLINE
| ID: mdl-2314592
ABSTRACT
We describe a young girl who presented with recurrent episodes of central nervous system (CNS) demyelination mimicking multiple sclerosis. Metabolic evaluations and decreased oxidation of [9,10(n)-3H] palmitate demonstrated defective mitochondrial beta oxidation, but complementation studies of the patient's cells, fused with cell lines with known defects of beta oxidation, failed to identify a known disorder. While progressive CNS demyelination has occurred in patients with defective peroxisomal very long-chain fatty acid oxidation, this is the 1st time it has occurred with defective mitochondrial beta oxidation. This patient appears to represent a novel disorder of beta oxidation producing intermittent demyelination with profound CNS symptoms. Recognition of the defect led to appropriate therapy, which caused marked clinical improvement.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Enfermedades Desmielinizantes
/
Ácido Graso Desaturasas
/
Mitocondrias
/
Esclerosis Múltiple
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
Neurology
Año:
1990
Tipo del documento:
Article