Leigh syndrome in an infant resulting from mitochondrial DNA depletion

Leigh syndrome is an encephalomyelopathy that results from a heterogeneous group of mitochondrial disorders characterized by symmetric brainstem spong ioform lesions. An infant born with hypotonia and lactic acidosis was found to have symmetric brainstem lesions on T-2-weighted magnetic resonance ima ging consistent with Leigh syndrome, Muscle biopsy failed to reveal ragged- red fibers or cells devoid of cytochrome C oxidase or succinate dehyrogenas e. Southern blot analysis of mitochondrial DNA isolated from the patient's quadriceps muscle indicated severe mitochondrial DNA depletion, which was s uggested as the cause for the Leigh syndrome seen in this patient. Consider ation of mitochondrial DNA depletion as an etiology when evaluating the pat ient with Leigh syndrome is encouraged. (C) 2001 by Elsevier Science Inc. A ll rights reserved.