[Kearns and Sayre syndrome with hypoparathyroidism and diabetes (author's transl)].
The authors give a very complete description of the Kearns and Sayre syndrome : external ophthalmoplegia, pigmentary retinitis, cardiac conduction disorders, cerebellar syndrome, hypacusis, reduced height, raised CSF protein levels, mitochondrial anomalies in muscle, skin, and conjunctivae, and low density zones on scanning. They emphasize the not-infrequent association of endocrine anomalies : hypoparathyroidism, which may be the first manifestation of the disease, and diabetes. The etiology of this syndrome, which occurs sporadically and starts in infancy, is still unknown.
D002526:Cerebellar Diseases / Q000150:complications*; D002675:Child, Preschool; D048909:Diabetes Complications; D005260:Female; D006801:Humans; D007011:Hypoparathyroidism / Q000150:complications*; D009132:Muscles / Q000473:pathology; D009886:Ophthalmoplegia / Q000150:complications*; D013577:Syndrome
Syndrome de Kearns et Sayre avec hypoparathyroïdie et diabète.