title: [Drachman's "ophthalmoplegia plus" or Kearns and Shy syndrome. Apropos of 2 cases with mitochondrial abnormality ultrastructurally demonstrated in the muscle].
abstract: Two typical cases of the Kearns and Shy syndrome are reported. Some of the authors have previously published observations on simple ocular myopathy and oculo-pharyngeal dystrophy associated with abnormalities of the mitochrondria in skeletal muscle cells. This disease, which is still called "ophthalmoplegia plus", combines a progressive external ophthalmoplegia, muscular defects and varied neurological signs with other symptoms particularly retinal, endocrine and cardiac. Histo-enzymological and ultra-structural studied of a fragment of skeletal muscle confirm the presence of mitochondrial anomalies.
mesh_terms: D000328:Adult; D001763:Blepharoptosis / Q000150:complications; D048909:Diabetes Complications; D005260:Female; D006177:Gynecomastia / Q000150:complications; D006801:Humans; D007006:Hypogonadism / Q000150:complications; D008297:Male; D008931:Mitochondria, Muscle / Q000648:ultrastructure*; D009886:Ophthalmoplegia / Q000150:complications / Q000473:pathology*; D012174:Retinitis Pigmentosa / Q000150:complications; D013577:Syndrome; D014927:Wolff-Parkinson-White Syndrome / Q000150:complications
vernacular_title: "Ophtalmoplégie plus" Drachman ou syndrome de Kearns et Shy. A propos de deux observations avec mise en évidence d'anomalies mitochondriales au niveau du muscle en ultrastructure