Kearns-Sayre syndrome. A case report.
The Turkish journal of pediatrics, vol.40, pp.255-9, 1998 (SCI-Expanded, Scopus, TRDizin)
- Publication Type: Article / Article
- Volume: 40
- Publication Date: 1998
- Journal Name: The Turkish journal of pediatrics
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
- Page Numbers: pp.255-9
- Acibadem Mehmet Ali Aydinlar University Affiliated: No
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.