Abstract

The paper describes a patient with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS). The features of the course and therapy of epilepsy in MELAS are discussed. The disease is known for its late diagnosis when years elapse from the onset of the clinical manifestations to diagnosis. The paper presents clinical criteria for the diagnosis of MELAS and the specific features of brain neuroimaging changes that allow identification of the disease at an early stage.

Keywords

MB, Mitochondrial diseases, mtDNA, mitochondrial DNA, MRI, magnetic resonance imaging, GTCS, generalized tonic-clonic seizure, HSV, herpes simplex virus, ENMG, electroneuromyography, MELAS syndrome, criteria for diagnosis, neuroimaging signs, clinical case