title: Unusual presentation of Kearns-Sayre syndrome in early childhood.
abstract: Congenital glaucoma and insulin-dependent diabetes mellitus were the predominant presenting signs in a patient with Kearns-Sayre syndrome. Thereafter, he developed short stature, pigmentary retinopathy, progressive external ophthalmoplegia, and ataxia. The diagnosis was confirmed by detecting a deletion of mitochondrial DNA in muscle, thus demonstrating that Kearns-Sayre syndrome can have the unusual presenting signs described above.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, American University of Beirut, Lebanon.
authors.forename: E M
authors.initials: EM
authors.lastname: Simaan
authors.forename: M A
authors.initials: MA
authors.lastname: Mikati
authors.forename: E H
authors.initials: EH
authors.lastname: Touma
authors.forename: A
authors.initials: A
authors.lastname: Rötig
mesh_terms: D000293:Adolescent; D004272:DNA, Mitochondrial / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000209:etiology; D005901:Glaucoma / Q000235:genetics; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D008297:Male
chemical_list: D004272:DNA, Mitochondrial