title: Leigh disease: clinical, neuroradiologic, and biochemical study of three new cases with cytochrome c oxidase deficiency.
abstract: Three cases of Leigh disease are described. In all three, symptoms began in the first months of life, with muscle hypotonia, lactic acidosis, and psychomotor delay. The diagnosis was made on the basis of the clinical characteristics, biochemical abnormalities, and typical brain magnetic resonance imaging with symmetric lesions suggesting bilateral necrosis at the level of the basal ganglia and of the midbrain. Cytochrome c oxidase (complex IV of the mitochondrial respiratory chain) deficiency was demonstrated in muscle tissue in all patients and confirmed in skin fibroblasts in patient 3. A genetic heterogeneity was present in these patients since only one had a SURF-1 gene mutation. The clinical, biochemical, and neuroradiologic aspects are discussed. Finally, the finding of facial dysmorphisms in the cytochrome c oxidase deficiency observed in one of the described cases is of extreme interest; to our knowledge, this association has never been reported in the literature.
authors.affiliation: Division of Pediatrics and Neonatology, Istituti Ospitaleri, Cremona, Italy. sasav@libero.it
authors.forename: S
authors.initials: S
authors.lastname: Savasta
authors.forename: G P
authors.initials: GP
authors.lastname: Comi
authors.forename: M P
authors.initials: MP
authors.lastname: Perini
authors.forename: A
authors.initials: A
authors.lastname: Lupi
authors.forename: S
authors.initials: S
authors.lastname: Strazzer
authors.forename: F
authors.initials: F
authors.lastname: Rognoni
authors.forename: R
authors.initials: R
authors.lastname: Rossoni
mesh_terms: D000140:Acidosis, Lactic / Q000175:diagnosis; D001479:Basal Ganglia / Q000473:pathology; D001706:Biopsy; D030401:Cytochrome-c Oxidase Deficiency / Q000175:diagnosis*; D004453:Echoencephalography; D005260:Female; D005347:Fibroblasts / Q000473:pathology; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins; D008636:Mesencephalon / Q000473:pathology; D024101:Mitochondrial Proteins; D009123:Muscle Hypotonia / Q000175:diagnosis; D018482:Muscle, Skeletal / Q000473:pathology; D009336:Necrosis; D017354:Point Mutation / Q000235:genetics; D011506:Proteins / Q000235:genetics; D011596:Psychomotor Disorders / Q000175:diagnosis; D012867:Skin / Q000473:pathology
chemical_list: D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D011506:Proteins; C092928:Surf-1 protein