Miroslav Žigrai, Anna Votrubová, Daniela Gašperíková, Martina Škopková, Pavol Paulíny, Katarína Fabriciová, Juraj Staník, Ľubica Procházková, Víťazoslav Belan, Ľubica Piesecká, Peter Kukumberg, Štefan Hrušovský, Iwar Klimeš
MELAS syndrome (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS) is a mitochondrial disease mostly caused by a point mutation A3243G of mitochondrial DNA. A case report of a 24-year-old female is presented with suspected MELAS syndrome based on clinical picture (perception hearing impairment, cumulation of epileptic paroxysms, migraines headaches, right-sided hemiparesis). The disease was confirmed by mutation A3243G. We wanted to demonstrate the -importance of DNA diagnosis in modern medicine.