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Leigh Disease: Clinical, Neuroradiologic, and Biochemical Study of Three New Cases With Cytochrome c Oxidase Deficiency

Division of Pediatrics and Neonatology "Istituti Ospitalieri" Cremona, Italy

Giacomo P. Comi, MD

Institute of Clinical Neurology "Centro Dino Ferrari" Università degli Studi di Milano IRCCS "Ospedale Maggiore Policlinico" Milano, Italy

Maria P. Perini, MD

Institute of Clinical Neurology "Centro Dino Ferrari" Università degli Studi di Milano IRCCS "Ospedale Maggiore Policlinico" Milano, Italy

Assuero Lupi, MD

Division of Pediatrics and Neonatology "Istituti Ospitalieri" Cremona, Italy

Sandra Strazzer, MD

Institute of Clinical Neurology "Centro Dino Ferrari" Università degli Studi di Milano IRCCS "Ospedale Maggiore Policlinico" Milano, Italy

Felice Rognoni, MD

Radiodiagnostics Service IRCCS "Fondazione Salvatore Maugeri" Pavia, Italy

Roberto Rossoni, MD

Division of Pediatrics and Neonatology "Istituti Ospitalieri" Cremona, Italy

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. (J Child Neurol 2001;16:608-613).

Journal of Child Neurology, Vol. 16, No. 8, 608-613 (2001)
DOI: 10.1177/088307380101600816


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