Russian Journal of Child NeurologyRussian Journal of Child NeurologyРусский журнал детской неврологии2073-88032412-9178Publishing House ABV Press53010.17650/2073-8803-2025-20-3-25-35REVIEWS AND LECTURESОБЗОРЫ И ЛЕКЦИИReview ArticleRett syndrome: differential diagnosis of epileptic and non-epileptic conditions. Review of foreign literatureСиндром Ретта: дифференциальный диагноз эпилептических и неэпилептических состояний. Обзор зарубежной литературыhttps://orcid.org/0000-0001-6125-0618BobylovaM. Y.БобыловаМ. Ю.
Russian Federation
mariya_bobylova@mail.ruhttps://orcid.org/0000-0003-3446-1203OkunevaI. V.ОкуневаИ. В.
Russian Federation
mariya_bobylova@mail.ruhttps://orcid.org/0000-0003-3054-7560UlyakovA. N.УляковА. Н.
Russian Federation
mariya_bobylova@mail.ruSvt. Luka’s Institute of Child Neurology and EpilepsyООО «Институт детской неврологии и эпилепсии им. Святителя Луки»Svt. Luka’s Institute of Child and Adult Neurology and EpilepsyООО «Институт детской и взрослой неврологии и эпилепсии им. Святителя Луки»Sklifosovsky Research Institute of Emergency Care of the Moscow Healthcare DepartmentГБУЗ «Научно-исследовательский институт скорой помощи им. Н.В. Склифосовского Департамента здравоохранения г. Москвы»MEDSOYUZ LLCООО «МЕДСОЮЗ»Russian Children Clinical Hospital – branch of the Pirogov Russian National Research Medical University, Ministry of Health of RussiaРоссийская детская клиническая больница – филиал ФГАОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России1912202520325351912202519122025Copyright ©; 2025, ABV-PressCopyright ©; 2025, АБВ-пресс2025ABV-PressАБВ-прессhttps://rjdn.abvpress.ru/jour/about/editorialPolicieshttps://rjdn.abvpress.ru/jour/article/view/530

Rett syndrome caused by MECP2 mutations is difficult for diagnostics of epileptic seizures, since contact with these patients is difficult, and the clinical manifestations of seizures are difficult to distinguish from various motor disorders and stereotypes. Currently, the genetic variants of Rett syndrome and approaches to therapy have been well studied, a classification of electroencephalogram changes has been developed. Nevertheless, epilepsy in Rett syndrome is characterized by pharmacoresistance. One of the reasons for the difficulties in the treatment of epilepsy is the overdiagnosis of epilepsy, as well as the difficulties in the differential diagnosis of epileptic seizures with stereotypical behavior and hyperkinesis. Videoelectroencephalographic monitoring plays a crucial role in the differential diagnosis of epileptic and non-epileptic paroxysmal conditions.

Синдром Ретта, вызванный мутациями в гене MECP2, представляет сложность для диагностики эпилептических приступов, поскольку контакт с этими пациентками затруднен, а клинические проявления приступов трудно отличить от различных двигательных нарушений и стереотипий. В настоящее время хорошо изучены генетические варианты синдрома Ретта и подходы к терапии, разработана классификация электроэнцефалографических изменений. Тем не менее эпилепсия при синдроме Ретта характеризуется фармакорезистентностью. Одной из причин трудностей в лечении эпилепсии является ее гипердиагностика, а также сложность дифференциальной диагностики эпилептических приступов со стереотипным поведением и гиперкинезами. Видеоэлектроэнцефалографический мониторинг играет решающую роль в дифференциальной диагностике эпилептических и неэпилептических пароксизмальных состояний.

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