neurojourНеврологический журнал имени Л.О. БадалянаL.O. Badalyan Neurological Journal2686-89972712-794XФГАУ «НМИЦ здоровья детей» Минздрава России10.46563/2686-8997-2023-4-4-234-246dxcuzgneurojour-117Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCLINICAL CASESЭпилепсия и особенности ЭЭГ при синдроме АнгельманаEpilepsy and EEG features in Angelman syndromehttps://orcid.org/0000-0001-9286-7805ГорчхановаЗарета КазбулатовнаGorchkhanovaZareta K.

К.м.н., врач-невролог отделения психоневрологии № 1, старший научный сотрудник отдела клинической генетики Научно-исследовательского клинического института педиатрии и детской хирургии им. академика Ю.Е. Вельтищева

e-mail: zgorchkhanova@pedklin.ru

 

MD, PhD, neurologist of the Department of Psychoneurology No. 1, senior researcher of the Department of Clinical Genetics of the Academician Y.E. Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery, Pirogov Russian National University, Moscow, 125412, Russian Federation

e-mail: zgorchkhanova@pedklin.ru

zgorchkhanova@pedklin.ruhttps://orcid.org/0000-0003-3594-6974БелоусоваЕлена Д.BelousovaElena D.noemail@neicon.ruhttps://orcid.org/0000-0001-7146-7220НиколаеваЕкатерина А.NikolaevaEkaterina A.noemail@neicon.ruhttps://orcid.org/0000-0002-7520-1072ПивовароваАлександра М.PivovarovaAleksandra M.noemail@neicon.ruОСП «Научно-исследовательский клинический институт педиатрии и детской хирургии имени академика Ю.Е. Вельтищева» ФГАОУ ВО «Российский национальный исследовательский медицинский университет имени Н.И. Пирогова» Минздрава РФAcademician Yu.E. Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery, Pirogov Russian National University20231101202444234246Copyright © Горчханова З.К., Белоусова Е.Д., Николаева Е.А., Пивоварова А.М., 20242024Горчханова З.К., Белоусова Е.Д., Николаева Е.А., Пивоварова А.М.Gorchkhanova Z.K., Belousova E.D., Nikolaeva E.A., Pivovarova A.M.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.neuro-journal.ru/jour/article/view/117

Синдром Ангельмана (СА) — орфанное заболевание, вызванное потерей функции материнского аллеля гена UBE3A в хромосоме 15 (участок 15q11.2-q13). Заболевание характеризуется тяжёлым нарушением психического и речевого развития, двигательными расстройствами, уникальным поведением в виде частого смеха и эпилептическими приступами с характерными аномалиями электроэнцефалографии (ЭЭГ). Эпилепсия часто фармакорезистентная, доминируют генерализованные типы приступов, среди которых наиболее распространены миоклонические приступы и атипичные абсансы. Инфантильные спазмы у детей с СА отмечаются редко, но картина ЭЭГ, особенно в младенческом возрасте в виде диффузной медленноволновой активности с мультирегиональной и генерализованной эпилептиформной активностью, может напоминать паттерн гипсаритмии. Статья содержит краткий обзор литературы по терапии эпилепсии у пациентов с СА и рекомендуемый алгоритм выбора противоэпилептического препарата (ПЭП). Мы приводим собственное наблюдение ребёнка, у которого ЭЭГ неверно описывалась как гипсаритмия, и из-за подозрения на наличие эпилептических спазмов была назначена гормональная терапия. Таким образом, у детей раннего возраста с задержкой развития, картиной рутинной ЭЭГ, схожей с гипсаритмией, но с отсутствием клинических и ЭЭГ-паттернов спазмов, необходимо проведение видео-ЭЭГ-мониторинга с записью сна для исключения паттерна «псевдогипсаритмии», что является особенно важным при подозрении на СА. При лечении эпилепсии у детей с СА необходимо придерживаться рекомендуемого, по данным литературы, алгоритма выбора ПЭП.

Соблюдение этических стандартов. Получено информированное добровольное согласие от родителей пациента.

Участие авторов

Участие авторов:Горчханова З.К. — концепция, написание текста;Белоусова Е.Д. — концепция, написание текста;Николаева Е.А. — концепция, редактирование текста;Пивоварова А.М. — редактирование текста.Все соавторы — утверждение окончательного варианта статьи, ответственность за целостность всех частей статьи.

Финансирование

Финансирование. Исследование не имело спонсорской поддержки.

Конфликт интересов

Конфликт интересов. Авторы заявляют об отсутствии конфликта интересов.

Поступила 21

Поступила 21.06.2023

Принята к печати 30

Принята к печати 30.08.2023

Опубликована 13

Опубликована 13.10.2023

Angelman syndrome (AS) is an orphan disease caused by loss of function of the maternal allele of the UBE3A gene on chromosome 15 (region 15q11.2-q13), characterized by severe mental and speech retardation, movement disorders, unique behavior in the form of frequent laughter, and epileptic seizures with characteristic anomalies in  EEG. Epilepsy is often drug-resistant, generalized seizure types dominate, among which myoclonic seizures and atypical absences are the most common. Infantile spasms are rare in AS children, but the EEG pattern, especially in infancy, in the form of diffuse slow-wave activity with multiregional and generalized epileptiform activity, may resemble a hypsarrhythmia pattern. We present own observation of a child in whom the EEG was incorrectly described as a hypsarrhythmia pattern, and hormonal therapy was prescribed with suspicion of epileptic spasms. In this article, we made a brief review of the literature on the treatment of epilepsy in AS patients with a recommended algorithm for choosing an antiepileptic drug (AED). In young children with developmental delay, a routine EEG pattern similar to hypsarrhythmia, but with out of clinical and EEG patterns of spasms, it is necessary to conduct video-EEG monitoring with recording of sleep, to exclude the “pseudo-hypsarrhythmia” pattern, which is especially important when Angelman syndrome is suspected. In the treatment of epilepsy in Angelman syndrome, it is necessary to adhere to the recommended, according to the literature, algorithm for choosing AEDs.

Compliance with ethical standards. Informed voluntary consent was obtained from the patient’s parents.

Contribution

Contribution:Gorchkhanova Z.K. — concept, writing text;Belousova E.D. — concept, writing text;Nikolaeva E.A. — concept, editing;Pivovarova A.M. — editing.All co-authors — responsibility for the integrity of all parts of the manuscript and approval of its final version.

Conflict of interest

Conflict of interest. The authors declare no conflict of interest.

Acknowledgement

Acknowledgement. The study had no sponsorship.

Received

Received: June 21, 2023Accepted:  August 30, 2023Published: October 13, 2023

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