Russian Journal of Child NeurologyRussian Journal of Child NeurologyРусский журнал детской неврологии2073-88032412-9178Publishing House ABV Press56410.17650/2073-8803-2026-21-2-80-96REVIEWS AND LECTURESОБЗОРЫ И ЛЕКЦИИReview ArticleEpilepsy in patients with Down syndrome (literature review and clinical cases)Эпилепсия у пациентов с синдромом Дауна (обзор литературы с описанием клинических случаев)https://orcid.org/0000-0001-6125-0618BobylovaMariya Yu.БобыловаМария Юрьевна
Russian Federation
mariya_bobylova@mail.ruhttps://orcid.org/0000-0003-0804-7076BurdS. G.БурдС. Г.
Russian Federation

Department of Neurology, Neurosurgery and Medical Genetics, Institute of Neuroscience and Neurotechnology

кафедра неврологии, нейрохирургии и медицинской генетики Института нейронаук и нейротехнологий

mariya_bobylova@mail.ruhttps://orcid.org/0000-0002-0652-1996TomenkoT. R.ТоменкоТ. Р.
Russian Federation
mariya_bobylova@mail.ruhttps://orcid.org/0000-0001-9218-2531RakhmaninaO. A.РахманинаО. А.
Russian Federation
mariya_bobylova@mail.ruhttps://orcid.org/0000-0001-9286-7805GorchkhanovaZ. K.ГорчхановаЗ. К.
Russian Federation
mariya_bobylova@mail.ruhttps://orcid.org/0000-0001-6482-3792YaminM. A.ЯминМ. А.
Russian Federation

Yu.E. Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery

ОСП «Научно-исследовательский клинический институт педиатрии и детской хирургии им. акад. Ю.Е. Вельтищева»

mariya_bobylova@mail.ruhttps://orcid.org/0000-0001-9510-4918MarkinA. V.МаркинА. В.
Russian Federation
mariya_bobylova@mail.ruSvt. Luka’s Institute of Child and Adult Neurology and EpilepsyООО «Институт детской и взрослой неврологии и эпилепсии им. Святителя Луки»Federal Center of Brain and Neurotechnologies, Federal Biomedical Agency of RussiaФГБУ «Федеральный центр мозга и нейротехнологий» Федерального медико-биологического агентства РоссииN.I. Pirogov Russian National Research Medical University, Ministry of Health of RussiaФГАОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава РоссииUral State Medical University, Ministry of Health of RussiaФГБОУ ВО «Уральский государственный медицинский университет» Минздрава РоссииEuropean Medical Center “UGMK-Health”ООО «Европейский медицинский центр «УГМК-Здоровье»Ural Federal University named after the First President of Russia B.N. YeltsinФГАОУ ВО «Уральский федеральный университет имени первого Президента России Б.Н. Ельцина»Tyumen State Medical University, Ministry of Health of RussiaФГБОУ ВО «Тюменский государственный медицинский университет» Минздрава РоссииLLC “Medical Center “Hippocrates 21st Century”ООО «Медицинский центр «Гиппократ 21 век»0308202621280960308202603082026Copyright ©; 2026, ABV-PressCopyright ©; 2026, АБВ-пресс2026ABV-PressАБВ-прессhttps://creativecommons.org/licenses/by/4.0/https://rjdn.abvpress.ru/jour/article/view/564

An overview of the literature and clinical cases of epilepsy in Down syndrome (DS) is presented. Epilepsy in DS has a bimodal distribution with two peaks: before 5 years of age and after 40 years. In childhood, the most common epileptic syndrome is infantile epileptic spasms syndrome. First-line treatment includes vigabatrin and corticosteroids.

The second peak of epilepsy occurs after the age of 40 and is associated with the coexistence of epilepsy and Alzheimer’s disease, which is known as late-onset myoclonic epilepsy in DS, the seizure semiology of which is similar to that of juvenile myoclonic epilepsy.

Clinical cases of patients with infantile epileptic spasms syndrome and DS successfully treated with vigabatrin are presented. Comorbidities in DS include a high prevalence of obstructive sleep apnea syndrome, increased carbonic anhydrase type 2 activity, and the presence of myoclonic seizures similar to those in juvenile myoclonic epilepsy. These features support the use of sultiame as a pathogenetically justified drug for the treatment of epilepsy in patients with AD.

A clinical case of a patient with DS is presented, in whom sultiame demonstrated high efficacy and good tolerability, as well as a positive impact on development and behavior

Представлен обзор литературы с описанием клинических случаев эпилепсии при синдроме Дауна (СД). Эпилепсия при СД носит двухфазный характер с пиками дебюта в возрасте до 5 и после 40 лет. В детском возрасте самым частым эпилептическим синдромом является синдром инфантильных эпилептических спазмов. К препаратам первой линии относят вигабатрин и глюкокортикостероиды.

Второй пик эпилепсии приходится на возраст старше 40 лет и ассоциирован с развитием болезни Альцгеймера; в данном случае речь идет о миоклонической эпилепсии с поздним началом при СД, семиология приступов которой сходна с таковой юношеской миоклонической эпилепсии.

Приведены клинические случаи сочетания синдрома инфантильных эпилептических спазмов и СД, в которых вигабатрин показал высокую эффективность. Среди коморбидной патологии при СД отмечаются высокая распространенность синдрома обструктивного апноэ сна, повышенная активность карбоангидразы 2-го типа, а также наличие миоклонических приступов, сходных с юношеской миоклонической эпилепсией. Это позволяет рассматривать сультиам как патогенетически обоснованный препарат для лечения эпилепсии у пациентов с СД.

Приведен клинический случай пациента с СД, у которого сультиам показал высокую эффективность и хорошую переносимость, а также оказал положительное влияние на развитие и поведение.

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