1. [Kearns-Sayre syndrome: mitochondrial encephalomyopathy caused by deficiency of the respiratory chain].
- Author
-
Desnuelle C, Pellissier JF, Serratrice G, Pouget J, and Turnbull DM
- Subjects
- Adolescent, Brain Diseases, Metabolic etiology, Coenzymes, Female, Humans, Kearns-Sayre Syndrome enzymology, Kearns-Sayre Syndrome pathology, Male, Microscopy, Electron, Middle Aged, Mitochondria, Muscle ultrastructure, Muscles ultrastructure, NAD(P)H Dehydrogenase (Quinone), Ubiquinone analogs & derivatives, Ubiquinone therapeutic use, Brain Diseases, Metabolic enzymology, Cytochrome-c Oxidase Deficiency, Electron Transport physiology, Kearns-Sayre Syndrome metabolism, Mitochondria, Muscle enzymology, Muscles pathology, Ophthalmoplegia metabolism, Quinone Reductases deficiency
- Abstract
We report the cases of a 46 year old woman and of a 18 year-old boy who met the criteria for Kearns-Sayre syndrome. Additional atypic features were present in one case: family history, psychosis and acute respiratory failure. In both cases histoenzymatic analysis of the muscle biopsy and biochemical studies of mitochondria isolated from the muscle sample demonstrated mitochondrial myopathy associated with combined partial deficiency of complexes I and IV of the electron transfer chain. Although there is no correlation between clinical and biological data in the mitochondrial myopathies our cases confirm that such defects are involved in Kearns-Sayre syndrome. Improvement with coenzyme Q10 therapy in these patients is reported.
- Published
- 1989