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