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.
Department of Pediatric Neurology, Cukurova University Faculty of Medicine, Adana, Turkey.
S
S
Altunbaşak
G
G
Bingöl
N
N
Ozbarlas
Z
Z
Akçören
O
O
Hergüner
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