Diffuse leukodystrophy with a large-scale mitochondrial DNA deletion

Lancet. 1994 Jun 4;343(8910):1397-8. doi: 10.1016/s0140-6736(94)92527-5.


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.

Publication types

  • Case Reports

MeSH terms

  • Base Sequence*
  • Brain / pathology
  • Child
  • DNA, Mitochondrial / genetics*
  • Diffuse Cerebral Sclerosis of Schilder / diagnosis
  • Diffuse Cerebral Sclerosis of Schilder / genetics*
  • Diffuse Cerebral Sclerosis of Schilder / pathology
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Muscles / pathology
  • Sequence Deletion*


  • DNA, Mitochondrial