MELAS syndrome: features of diagnostics, clinical course, and treatment (clinical case)

Purpose: to develop and propose an algorithm for timely and accessible clinical diagnostics and basic principles of treatment of patients with MELAS syndrome (one of the most common diseases in the group of mitochondrial diseases (MB)), based on the example of a specific clinical case. The prevalence of this pathology cannot be estimated due to the variety of clinical manifestations and, as a consequence, due to the complexity of timely diagnostics. Diagnosis of this disease, from the onset of the initial clinical manifestations to the clear establishment of the MELAS syndrome, often takes years. We present and discuss clear clinical criteria for making a diagnosis, as well as the features of neu-roimaging changes in the brain, which allows us to detect the disease at the earliest stage. A detailed clinical analysis of patient B.'s own observation, born in 1993, with MELAS syndrome is presented. This clinical case clearly demonstrates the emerging difficulties for the earliest diagnosis of this pathology in patients with MB. Despite the phenotypic heterogeneity of mitochondrial disorders, the relationship between clinical signs and additional laboratory data, genetic verification of the diagnosis can provide the clinician with sufficiently important information to unravel the genetic defect, which allows for an earlier diagnosis and prescribing timely treatment.