Leigh disease: Clinical, neuroradiologic, and biochemical study of three new cases with cytochrome c oxidase deficiency

Three cases of Leigh disease are described. In all three, symptoms began in the first months of lire, with muscle hypotonia, lactic acidosis, and psyc homotor delay. The diagnosis was made on the basis of the clinical characte ristics, biochemical abnormalities, and typical brain magnetic resonance im aging 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 ge netic heterogeneity was present in these patients since only one had a SURF -1 gene mutation, The clinical, biochemical, and neuroradiologic aspects ar e discussed. Finally, the finding of facial dysmorphisms in the cytochrome c oxidase deficiency observed in one of the described cases is of extreme i nterest; to our knowledge, this association has never been reported ill the literature.