Unusual presentation of Kearns-Sayre syndrome in early childhood.
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.
Simaan
E M
EM
Department of Pediatrics, Faculty of Medicine, American University of Beirut, Lebanon.
Mikati
M A
MA
Touma
E H
EH
Rötig
A
A
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
D004272:DNA, Mitochondrial