Kearns-Sayre syndrome. A case report.


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

The Turkish journal of pediatrics, cilt.40, ss.255-9, 1998 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 40
  • Basım Tarihi: 1998
  • Dergi Adı: The Turkish journal of pediatrics
  • Sayfa Sayıları: ss.255-9

Özet

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.