Kearns-Sayre syndrome. A case report.
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.
Altunbaşak
S
S
Department of Pediatric Neurology, Cukurova University Faculty of Medicine, Adana, Turkey.
Bingöl
G
G
Ozbarlas
N
N
Akçören
Z
Z
Hergüner
O
O
D000140:Acidosis, Lactic / Q000150:complications*; D000293:Adolescent; D001706:Biopsy; D003922:Diabetes Mellitus, Type 1 / Q000150:complications*; D005260:Female; D006327:Heart Block / Q000150:complications*; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D008297:Male; D017240:Mitochondrial Myopathies / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D009132:Muscles / Q000473:pathology