Kearns-Sayre syndrome. A case report.


Altunbaşak S., Bingöl G. , Ozbarlas N., Akçören Z., Hergüner O.

The Turkish journal of pediatrics, vol.40, pp.255-9, 1998 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 40
  • Publication Date: 1998
  • Title of Journal : The Turkish journal of pediatrics
  • Page Numbers: pp.255-9

Abstract

Kearns-Sayre syndrome (KSS) is a mitochondrial disorder. There is a large-scale mitochondrial DNA (mtDNA) deletion in most of the cases. In this article, a case of KSS who has progressive external ophthalmoplegia (PEO), retinitis pigmentosa (RP), complete heart block, encephalopathy attacks, type-I diabetes mellitus, ragged-red fiber (RRF) and lactic acidosis is presented and discussed in light of the literature available on this subjects. Diagnosis is confirmed by determination of mtDNA deletion.