Melas syndrome - Case report

Abstract

Syndrome that includes mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes is briefly called MELAS. It is a rare (estimated prevalence is 16/100 000), progressive, neurodegenerative and incurable disease. It is a result of mutation of mitochondrial DNA. We report herein a case of 24-year-old woman who suffers from MELAS. First simptoms occurred in the age of 13 in the manner of headache and vomiting. Later on seizures have been registered, in the beginning as atypical apsans like, and than in the way of complex partial and generalised tonic-clonic seizures. They were often refractory with the applied antiepileptic therapy. In the course of illness speech disorder, memory loss, sight and hearing disorder occured with psychiatric changes. Motor weakness appeared as a result of repeated brain ischaemia and ecephalomalacia. Previously mentioned signs of the disease had their correlation in the diagnostic procedures. Endocranial MR showed signs of continuous deterioration of the disease with necrosis in numerous parts of the brain. Elevated lactate level has been found, marked with press sequences that matches sequelaes of oxidative metabolism. EEG showed signs of epileptiform dysfunction. Genetic investigation was positive. Since there is no causal therapy, early recognition and symptomatic treatment may be of certain benefit.