Leigh syndrome in an infant resulting from mitochondrial DNA depletion

Michael J. Absalon, Cary O. Harding, Daniel R. Fain, Lei Li, Kenneth J. Mack

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


Leigh syndrome is an encephalomyelopathy that results from a heterogeneous group of mitochondrial disorders characterized by symmetric brainstem spongioform lesions. An infant born with hypotonia and lactic acidosis was found to have symmetric brainstem lesions on T2-weighted magnetic resonance imaging consistent with Leigh syndrome. Muscle biopsy failed to reveal ragged-red fibers or cells devoid of cytochrome C oxidase or succinate dehyrogenase. Southern blot analysis of mitochondrial DNA isolated from the patient's quadriceps muscle indicated severe mitochondrial DNA depletion, which was suggested as the cause for the Leigh syndrome seen in this patient. Consideration of mitochondrial DNA depletion as an etiology when evaluating the patient with Leigh syndrome is encouraged.

Original languageEnglish (US)
Pages (from-to)60-63
Number of pages4
JournalPediatric Neurology
Issue number1
StatePublished - 2001

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology


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