Kearns-Sayre Syndrome: Case Report

Abstract

The mitochondrial encephalomyopathies caused by a disorder in the mitochondrial DNAstructure are rare multisystem diseases. MERRF (myoclonic epilepsi, ragged-red fibers),MELAS ( mitochondrial ensefalomyopathy, lactic acidosis, stroke-like episodes) and KSS(kearus-Sayre Syndrome) are the well known mitochondrial encepbalomyopathies. Thereare limited reports about their neuroradiological findings. In Kearns-Sayre Syndrome hasalganglionic calcifications are often seen in CT, but only in a few case reports hyperintenslesions in the brain stem, cerebellum and diencephalic stuctures on T2- weighted MR images are demonstrated. In this study we discussed a KSS patient with his clinical, MRI and pathological findings.