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Early-onset fatal encephalomyopathy associated with severe mtDNA depletion
V Paquis-Flucklinger1, J F Pellissier, J Camboulives
1Laboratorie de Neurobiologie Cellulaire, Faculté de Médecine, Nice, France.
Unlabelled:
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.