Deficiency in complex IV (cytochrome c oxidase) of the respiratory chain, presenting as a leukodystrophy in two siblings with Leigh syndrome

Brain Dev. Mar-Apr 1995;17(2):117-21. doi: 10.1016/0387-7604(94)00098-i.

Abstract

Two siblings with Leigh syndrome presenting at the age of 6 months with clinical and radiological features suggestive of a leukodystrophy are reported. A deficiency in complex IV of the respiratory chain (cytochrome c oxidase) was demonstrated in muscle mitochondria of both patients. To our knowledge, this is the first familial case of Leigh syndrome due to cytochrome c oxidase deficiency, presenting clinically and radiologically with signs of a leukodystrophic process. We suggest that respiratory chain enzyme defects should be considered in the differential diagnosis of cases suggestive of a leukodystrophy.

Publication types

  • Case Reports

MeSH terms

  • Brain / diagnostic imaging
  • Brain / pathology*
  • Cytochrome-c Oxidase Deficiency*
  • Diagnosis, Differential
  • Female
  • Humans
  • Infant
  • Leigh Disease / diagnosis*
  • Leigh Disease / genetics
  • Leukodystrophy, Metachromatic / diagnosis*
  • Magnetic Resonance Imaging
  • Male
  • Muscle, Skeletal / enzymology
  • Muscle, Skeletal / pathology
  • Sural Nerve / pathology
  • Tomography, X-Ray Computed