Early-onset fatal encephalomyopathy associated with severe mtDNA depletion

Eur J Pediatr. 1995 Jul;154(7):557-62. doi: 10.1007/BF02074834.


We studied a 3-month-old girl who was admitted to hospital because of respiratory distress. The clinical course was characterized by a rapidly progressive generalized hypotonia with lactic acidosis and she died at 4 months of age. A muscle biopsy showed few ragged-red fibres and lack of histochemical cytochrome c oxidase reaction in all fibres. Enzyme activities of the respiratory chain complexes containing subunits encoded by the mitochondrial DNA (mtDNA) were markedly decreased. A quantitative Southern blot analysis revealed 99% depletion of mtDNA in muscle and normal amounts in blood. There was no family history and the dizygotic twin sister of the patient was no symptomatic.

Conclusion: This new case confirms the rapidly fatal evolution associated with severe depletion of muscle mtDNA.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acidosis, Lactic / genetics
  • Acidosis, Lactic / pathology
  • Brain / pathology
  • Cytochrome-c Oxidase Deficiency
  • DNA, Mitochondrial / genetics*
  • Diseases in Twins / genetics
  • Fatal Outcome
  • Female
  • Humans
  • Infant
  • Microscopy, Electron
  • Mitochondrial Encephalomyopathies / genetics*
  • Mitochondrial Encephalomyopathies / pathology
  • Muscle Hypotonia / genetics
  • Muscle Hypotonia / pathology
  • Muscle, Skeletal / pathology
  • Twins, Dizygotic


  • DNA, Mitochondrial