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An 8-year-old girl with progressive ataxia and bulbar palsy showed diffuse white-matter lesions in the occipital to parietal lobes on magnetic resonance imaging.Since she had slightly elevated lactate in the cerebrospinal fluid,a muscle biopsy was done which revealed scattered ragged-red fibres and focal cytochrome c oxidase deficiency.Southern blot and polymerase-chain-reaction analyses revealed a large-scale mitochondrial DNA deletion,which was 6990 base-pairs in length with 6 base-pair(-TCATCG-)direct repeats at the junctions.Mitochondrial DNA mutation should be considered as one of the candidate causes for diffuse leukodystrophy in children. |
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