MELAS syndrome: a case report

Abstract

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is a group of maternally inherited disorders caused by mutations or deletions in mitochondrial genes characterized by metabolic stroke, seizures, cognitive decline, lactic acidosis, ragged-red fibers, headache, vomiting and in 80% of cases it occurs due to the mtDNA variant m.3243A>G. Here, we present case history of a 17-year-old boy who was diagnosed with MELAS syndrome, whose brain magnetic resonance spectroscopy showed decreased N-acetylaspartate and choline peak and markedly increased lipid and lactate peak. Genetic study revealed positive mutation variant in subunit-5 of the respiratory chain (MT-ND5) which is reported in MELAS.

BIRDEM Med J 2026; 16(2): 100-103