Kearns-Sayre syndrome. A case report

Turk J Pediatr. Apr-Jun 1998;40(2):255-9.

Abstract

Kearns-Sayre syndrome (KSS) is a mitochondrial disorder. There is a large-scale mitochondrial DNA (mtDNA) deletion in most of the case. In this article, a case of KSS who has progressive external ophthalmoplegia (PEO), retinitis pigmentosa (RP), complete heart block, encephalopathy attacks, type-1 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.

MeSH terms

  • Acidosis, Lactic / complications*
  • Adolescent
  • Biopsy
  • Diabetes Mellitus, Type 1 / complications*
  • Female
  • Heart Block / complications*
  • Humans
  • Kearns-Sayre Syndrome / complications*
  • Kearns-Sayre Syndrome / diagnosis
  • Kearns-Sayre Syndrome / genetics
  • Male
  • Mitochondrial Myopathies / complications*
  • Mitochondrial Myopathies / diagnosis
  • Mitochondrial Myopathies / genetics
  • Muscles / pathology