ea0029p1323 | Paediatric endocrinology | ICEECE2012
Obara-Moszynska M.
, Maceluch J.
, Bobkowski W.
, Baszko A.
, Jaremba O.
, Krawczynski M.
, Niedziela M.
Introduction: Kearns-Sayre syndrome (KSS) is a rare mitochondrial cytopathy. The diagnosis of KSS is made on the classical triad of symptoms: onset of the disease <20 years of age, progressive external ophthalmoplegia (PEO) and pigmentary retinopathy (PR). KSS is manifested also by other systemic abnormalities: cardiac conduction defects, different neurological abnormalities and several endocrine disorders. A variety of deletions and/or duplications in mtDNA, affecting gen...