Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency

J Pediatr. 2000 Feb;136(2):209-14. doi: 10.1016/s0022-3476(00)70103-x.


Several mitochondrial diseases are known to occasionally involve the cerebral white matter, namely Leigh syndrome, Kearns-Sayre syndrome, and MELAS syndrome, but in these cases the major finding is alteration in the basal ganglia and brainstem. Here we report on severe diffuse white matter involvement and respiratory chain enzyme deficiency or mitochondrial DNA rearrangement in 5 unrelated families. It is interesting that white matter lesions were the only abnormal neuroradiologic feature in 3 of the 5 families, and multiple small cyst-like white matter lesions were found in 2 of 5 probands. Respiratory chain deficiency should be considered in the diagnosis of severe white matter involvement in childhood.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Brain / pathology
  • Child
  • Cytochrome-c Oxidase Deficiency
  • DNA, Mitochondrial / genetics
  • Electron Transport
  • Female
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Mitochondrial Encephalomyopathies / etiology*
  • Mitochondrial Encephalomyopathies / genetics
  • Mitochondrial Encephalomyopathies / pathology
  • Oxidative Phosphorylation
  • Succinate Cytochrome c Oxidoreductase / deficiency


  • DNA, Mitochondrial
  • Succinate Cytochrome c Oxidoreductase