Unusual presentation of Kearns-Sayre syndrome in early childhood.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Simaan, EM; Mikati, MA; Touma, EH; Rötig, A

Published Date

  • November 1999

Published In

Volume / Issue

  • 21 / 5

Start / End Page

  • 830 - 831

PubMed ID

  • 10593676

International Standard Serial Number (ISSN)

  • 0887-8994

Digital Object Identifier (DOI)

  • 10.1016/s0887-8994(99)00084-3

Language

  • eng

Conference Location

  • United States