[Kearns-Sayre syndrome: mitochondrial encephalomyopathy caused by deficiency of the respiratory chain].
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.
Desnuelle
C
C
Clinique des Maladies du Système Nerveux, C.H.U. La Timone, Marseille.
Pellissier
J F
JF
Serratrice
G
G
Pouget
J
J
Turnbull
D M
DM
D000293:Adolescent; D001928:Brain Diseases, Metabolic / Q000201:enzymology* / Q000209:etiology; D003067:Coenzymes; D030401:Cytochrome-c Oxidase Deficiency; D004579:Electron Transport / Q000502:physiology*; D005260:Female; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000201:enzymology / Q000378:metabolism* / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000201:enzymology* / Q000648:ultrastructure; D009132:Muscles / Q000473:pathology* / Q000648:ultrastructure; D016660:NAD(P)H Dehydrogenase (Quinone); D009886:Ophthalmoplegia / Q000378:metabolism*; D011808:Quinone Reductases / Q000172:deficiency*; D014451:Ubiquinone / Q000031:analogs & derivatives / Q000627:therapeutic use
D003067:Coenzymes; D014451:Ubiquinone; D016660:NAD(P)H Dehydrogenase (Quinone); D011808:Quinone Reductases; C024989:coenzyme Q10
Le syndrome de Kearns et Sayre: encéphalomyopathie mitochondriale par déficit de la chaine respiratoire.