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Juvenile multiple sclerosislike episodes associated with a defect of mitochondrial beta oxidation
- Source :
- Neurology (Ovid); March 1990, Vol. 40 Issue: 3 p487-491, 5p
- Publication Year :
- 1990
-
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.
Details
- Language :
- English
- ISSN :
- 00283878 and 1526632X
- Volume :
- 40
- Issue :
- 3
- Database :
- Supplemental Index
- Journal :
- Neurology (Ovid)
- Publication Type :
- Periodical
- Accession number :
- ejs49030960