title: Leigh syndrome in an infant resulting from mitochondrial DNA depletion.
abstract: 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 T(2)-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.
authors.affiliation: Department of Pediatrics, University of Wisconsin, Madison, WI 53705, USA.
authors.forename: M J
authors.initials: MJ
authors.lastname: Absalon
authors.forename: C O
authors.initials: CO
authors.lastname: Harding
authors.forename: D R
authors.initials: DR
authors.lastname: Fain
authors.forename: L
authors.initials: L
authors.lastname: Li
authors.forename: K J
authors.initials: KJ
authors.lastname: Mack
mesh_terms: D001706:Biopsy; D015139:Blotting, Southern; D001921:Brain / Q000473:pathology; D004272:DNA, Mitochondrial / Q000032:analysis* / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007888:Leigh Disease / Q000175:diagnosis* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009460:Neurologic Examination; D013577:Syndrome
chemical_list: D004272:DNA, Mitochondrial