r-n-jРоссийский неврологический журналRussian neurological journal2658-79472686-7192МИА10.30629/2658-7947-2019-24-3-24-30r-n-j-13Research ArticleКЛИНИЧЕСКИЕ ИССЛЕДОВАНИЯ И НАБЛЮДЕНИЯCLINICAL RESEARCH AND SURVEILLANCEСЛОЖНОСТИ ДИАГНОСТИКИ РАННЕЙ ИНФАНТИЛЬНОЙ ЭПИЛЕПТИЧЕСКОЙ ЭНЦЕФАЛОПАТИИ 9-ГО ТИПАDIFFICULTIES OF EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY-9 DIAGNOSTIChttps://orcid.org/0000-0002-2946-9158МаловА. Г.MalovA. G.

доктор медицинских наук, доцент кафедры неврологии им. В.П. Первушина

Doctor of Medical Sciences, Associate Professor of the Department of Neurology V.P. Pervushina

malovag1959@mail.ruhttps://orcid.org/0000-0002-6900-4320ВшивковМ. И.VshivkovM. I.

врач-невролог, заведующий отделением неврологии

Neurologist, Head of the Department of Neurology

https://orcid.org/0000-0001-5326-6740МамунцМ. А.MamuntsM. A.

канд. мед. наук, доцент кафедры педиатрии

Candidate of Medical Sciences, Associate Professor of the Department of Pediatrics, Faculty of additional professional education

ФГБОУ ВО Пермский государственный медицинский университет им. академика Е.А. Вагнера МЗ РФРоссияAcademician Ye. A. Vagner Perm State Medical UniversityRussian FederationГБУЗ ПК Детская клиническая больница им. П.И. ПичугинаРоссияChildren’s Clinical Hospital named after P.I. PichuginRussian Federation201903092019032430Copyright © Малов А.Г., Вшивков М.И., Мамунц М.А., 20192019Малов А.Г., Вшивков М.И., Мамунц М.А.Malov A.G., Vshivkov M.I., Mamunts M.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.r-n-j.com/jour/article/view/13

Ранние инфантильные эпилептические энцефалопатии (РИЭЭ) - это группа моногенных эпилепсий, вызываемых мутациями более чем в 70 генах. Материал и методы. Представлены данные длительного динамического клинико-электроэнцефалографического наблюдения девочки, больной РИЭЭ 9-го типа (OMIM 300088), обусловленной мутацией в гене PCDH19 (OMIM 300460). Результаты. Верный этиологический диагноз наследственного заболевания был установлен ребенку только в возрасте 14 лет. Дебют эпилепсии в виде серии генерализованных тонических судорог с миоклониями в левой руке длительностью до 1 мин произошел в возрасте 8 мес. Был ошибочно диагностирован вирусный энцефалит. В дальнейшем кластеры судорожных припадков, провоцируемые фебрильными состояниями, возникали несколько раз в год независимо от вида и количества принимаемых антиконвульсантов. Несмотря на отсутствие значимых структурных изменений в головном мозге при нейровизуализации, постепенно сформировалась фармакорезистентная фокальная эпилепсия. В возрасте 14 лет в рамках предхирургического обследования на 2 сут произведена полная отмена антиконвульсантов и имплантация субдуральных электродов. Зарегистрированы фокальные моторные припадки с переходом в билатеральные тонико-клонические, при которых первичная генерация эпилептической активности локализовалась в левой височной доле. Тщательное обследование с уточнением моногенного генеза заболевания дало возможность избежать неоправданно го хирургического вмешательства на головном мозге. Обсуждение. Представленное наблюдение является наглядным примером того, как важно своевременное проведение генетического обследования при эпилепсии для постановки верного диагноза, адекватного подбора антиконвульсантов и решения вопроса о возможности хирургического лечения.

 

Introduction: Early infantile epileptic encephalopathy (EIEE) is a group of monogenic epilepsies which are caused by mutations in more than 70 genes. Material and methods: The data of a long-term dynamic EEG observation of a girl with EIEE9 (OMIM 300088) caused by a mutation in the PCDH19 gene (OMIM 300460) are presented. Results: Correct etiological diagnosis of the hereditary disease was established only at the age of 14 years. Epilepsy debuted at the age of 8 months as a series of one minute long generalized tonic convulsions with myoclonia in the left arm. After further examination the symptoms were mistakenly regarded as viral encephalitis. Subsequently, clusters of convulsive seizures provoked by febrile states periodically were occurring several times per year irrespective of the type and amount of anticonvulsants taken. Despite the fact, that no significant structural changes in the brain we found during neuroimaging, pharmacoresistant focal epilepsy gradually developed. At the age of 14 years, as part of a pre-surgical examination for two days, the complete abolition of anticonvulsants and the implantation of subdural electrodes were performed. Focal motor seizures with a transition to bilateral tonic-clonic seizures were recorded, during which the primary generation of epileptic activity was localized in the left temporal lobe. А thorough examination with a clarification of the monogenic origin of the disease made it possible to avoid undue surgery on the brain. Discussion: The presented observation is a clear example of why a timely genetic examination is important for establishing correct diagnosis, adequate selection of anticonvulsants and a making a right decision on the possibility of surgical treatment.

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