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Abstract #15441 Published in IGR 1-3
Unusual presentation of Kearns-Sayre syndrome in early childhood
Simaan EM; Mikati MA; Touma EH; Rotig APediatric Neurology 1999; 21: 830-831
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.
Dr. E.M. Simaan, Department of Pediatrics, Faculty of Medicine, American University of Beirut, Beirut; Lebanon
Classification:
9.1.1 Congenital glaucoma, Buphthalmos (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
