DIFFUSE LEUKODYSTROPHY WITH A LARGE-SCALE MITOCHONDRIAL-DNA DELETION

An 8-year-old girl with progressive ataxia and bulbar palsy showed dif fuse white-matter lesions in the occipital to parietal lobes on magnet ic resonance imaging. Since she had slightly elevated lactate in the c erebrospinal 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 mit ochondrial DNA deletion, which was 6990 base-pairs in length with 6 ba se-pair (-TCATCG-) direct repeats at the junctions. Mitochondrial DNA mutation should be considered as one of the candidate causes for diffu se leukodystrophy in children.