epilepsiaEpilepsy and paroxysmal conditionsЭпилепсия и пароксизмальные состояния2077-83332311-4088IRBIS LLC10.17749/2077-8333/epi.par.con.2023.172epilepsia-963Research ArticleCLINICAL CASESКЛИНИЧЕСКИЕ СЛУЧАИEpilepsy and MELAS syndrome: literature review and clinical observationЭпилепсия и синдром MELAS: обзор литературы и клиническое наблюдениеhttps://orcid.org/0000-0002-4449-8651ТеплышоваА. М.TeplyshevaА. М.

Теплышова Анна Михайловна – к.м.н., старший научный сотрудник лаборатории клинической нейрофизиологии

Волоколамское ш., д. 80, Москва, 125367

Anna M. Teplyshova – MD, PhD, Senior Researcher, Laboratory of Clinical Neurophysiology

80 Volokolamskoe Shosse, Moscow, 125367

teplyshova@neurology.ruhttps://orcid.org/0009-0003-6576-1345ГлазоваМ. А.GlazovaМ. А.

Глазова Мария Александровна – аспирант 2-го неврологического отделения с лабораторией кардионеврологии

Волоколамское ш., д. 80, Москва, 125367

Maria A. Glazova – Postgraduate, 2nd Neurological Department with Cardioneurology Laboratory,

80 Volokolamskoe Shosse, Moscow, 125367

https://orcid.org/0000-0001-5539-245XКоноваловР. Н.KonovalovR. N.

Коновалов Родион Николаевич – к.м.н., старший научный сотрудник отдела лучевой диагностики 

Волоколамское ш., д. 80, Москва, 125367

Rodion N. Konovalov – MD, PhD, Senior Researcher, Radiology Department

80 Volokolamskoe Shosse, Moscow, 125367

Федеральное государственное бюджетное научное учреждение «Научный центр неврологии»РоссияResearch Center of NeurologyRussian Federation202322122023154361371Copyright © Teplysheva А.М., Glazova М.А., Konovalov R.N., 20232023Теплышова А.М., Глазова М.А., Коновалов Р.Н.Teplysheva А.М., Glazova М.А., Konovalov R.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.epilepsia.su/jour/article/view/963

MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) belongs to the group of mitochondrial diseases. Most MELAS syndrome cases are associated with the A3243G mutation in the MTTL1 gene. A common clinical manifestation of the syndrome is presented by epileptic seizures (ES) characterized by phenotypic polymorphism and resistance to antiepileptic therapy. Diagnosis and treatment of epilepsy in patients with MELAS syndrome often poses difficulties. We present a clinical case of adult patient with MELAS syndrome with identified A3243G mutation and epilepsy. The disease course developed to severe cognitive impairment. The first focal ES occurred during stroke-like episode. Further seizures were observed spontaneously, with high frequency, often manifested as a series. Focal ES often had blurred polymorphic manifestations. The choice of drug therapy took into account the side effects of antiepileptic drugs (AEDs) including potentially mitochondria-related negative effects. While diagnosing EP in MELAS syndrome, it should be considered that seizures often occur during stroke-like episodes and may have blurred polymorphic clinical manifestations. Cognitive impairment in patients complicates ES detection. First-line drugs should be presented by AEDs with low mitochondrial toxicity.

Синдром MELAS (англ. mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes – митохондриальная энцефаломиопатия, лактатацидоз и инсультоподобные эпизоды) относится к группе митохондриальных заболеваний. Большинство случаев синдрома MELAS связаны с мутацией A3243G в гене MTTL1. Частым клиническим проявлением синдрома являются эпилептические приступы (ЭП), которые отличаются фенотипическим полиморфизмом и устойчивостью к противоэпилептической терапии. Диагностика и терапия эпилепсии у пациентов с синдромом MELAS нередко вызывает трудности. В статье представлен клинический случай взрослого пациента с синдромом MELAS с установленной мутацией A3243G и эпилепсией. Наблюдалось прогрессирующее течение заболевания с развитием выраженных когнитивных нарушений. Первые фокальные ЭП возникли на фоне инсультоподобного эпизода. Далее приступы отмечались спонтанно, с высокой частотой, нередко в виде серий. Фокальные ЭП часто имели стертые полиморфные проявления. Выбор медикаментозной терапии учитывал побочные эффекты противоэпилептических препаратов (ПЭП), включая потенциально негативное воздействие на митохондрии. В диагностике ЭП при синдроме MELAS следует учитывать, что приступы нередко возникают во время инсультоподобных эпизодов, могут иметь стертые полиморфные клинические проявления. Наличие когнитивных нарушений у пациентов осложняет выявление ЭП. Препаратами первой линии должны быть ПЭП с низкой митохондриальной токсичностью.

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The authors declare that there are no conflicts of interest present.