| Autor: |
Powell, B. R., Kennaway, N. G., Rhead, W. J., Reece, C. J., Burlingame, T. G., Buist, N. R.M. |
| Zdroj: |
Neurology (Ovid); March 1990, Vol. 40 Issue: 3 p487-491, 5p |
| Abstrakt: |
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. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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