epilepsiaEpilepsy and paroxysmal conditionsЭпилепсия и пароксизмальные состояния2077-83332311-4088IRBIS LLC10.17749/2077-8333.2016.8.4.008-012epilepsia-312Research ArticleORIGINAL ARTICLESОРИГИНАЛЬНЫЕ СТАТЬИEPILEPSY MANIFESTATIONS IN PATIENTS WITH MALFORMATIONS OF THE CORPUS CALLOSUMЭПИЛЕПТОЛОГИЧЕСКИЕ ПРОЯВЛЕНИЯ У ПАЦИЕНТОВ С ПОРОКАМИ РАЗВИТИЯ МОЗОЛИСТОГО ТЕЛАМиловановаО. А.MilovanovaO. A.

д.м.н., профессор кафедры неврологии детского возраста,

ул. Баррикадная, д. 2/1, Москва, 125993

MD, professor of department of pediatric neurology,

ul. Barrikadnaja, d. 2/1, Moscow, 125993

milovanova_olga@yahoo.comМойзыкевичЕ. Р.MoyzykevichE. R.

аспирант,

ул. Баррикадная, д. 2/1, Москва, 125993

graduate student,

ul. Barrikadnaja, d. 2/1, Moscow, 125993

lenadarkina@mail.ruАвакянГ. Г.AvakianG. G.

к.м.н., доцент кафедры неврологии, нейрохирургии и медицинской генетики

ул. Островитянова, д. 1, Москва, 117997

PhD, Department of Neurology, Neurosurgery and Medical Genetics,

ul.Ostrovityanova, 1, Moscow, 117997

avakyan_georgy@mail.ruТаракановаТ. Ю.TarakanovaY. Yu.

аспирант,

ул. Баррикадная, д. 2/1, Москва, 125993

graduate student,

ul. Barrikadnaja, d. 2/1, Moscow, 125993

ttarakanova16@gmail.comФГБОУ ДПО «Российская медицинская академия последипломного образования» Минздрава России; Детская городская клиническая больница имени З.А. Башляевой ДЗРоссияRussian Medical Academy of Postgraduate Education of the Ministry of Health of the Russian Federation; Children’s city clinical hospital named after Z.A. BashlyaevoyRussian FederationФГБОУ ДПО «Российская медицинская академия последипломного образования» Минздрава РоссииРоссияRussian Medical Academy of Postgraduate Education of the Ministry of Health of the Russian FederationRussian FederationФГБОУ ВО «РНИМУ им. Н.И. Пирогова» Минздрава РоссииРоссияFSBE HEN. I. Pirogov RNRMU MOH RussiaRussian Federation20161103201784812Copyright © Milovanova O.A., Moyzykevich E.R., Avakian G.G., Tarakanova Y.Y., 20172017Милованова О.А., Мойзыкевич Е.Р., Авакян Г.Г., Тараканова Т.Ю.Milovanova O.A., Moyzykevich E.R., Avakian G.G., Tarakanova Y.Y.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/312

The article deals with epileptic manifestations with malformations of the corpus callosum of the example of two disembriogenetic syndromes (Aicardi syndrome and Pierre-Robin syndrome). These hereditary syndromes have in common is expressed epileptic manifestations, malformations of the corpus callosum and other somatic congenital abnormality. The treatment is mainly symptomatic. Unlike most other neurogenetic syndromes with known molecular defect, DNA testing at Aicardi syndrome and Pierre-Robin syndrome is very difficult task, and the focus of the diagnosis of the disease belongs to the complex clinical and neuroimaging studies. Timely detection of these syndromes is a difficult task that requires a great deal of clinical experience, practical knowledge, not only in neuroscience but also in the related fields of medicine.

В статье рассмотрены эпилептические проявления у больных с пороками развития мозолистого тела на примере двух дисэмбриогенетических синдромов (Айкарди и Пьера-Робена). Данные наследственные синдромы объединяет наличие выраженных эпилептических проявлений, соматической врожденной патологии, пороков развития мозолистого тела. Лечение – преимущественно симптоматическое. В подавляющем большинстве наблюдений эпилептические приступы резистентны к назначаемой противосудорожной терапии. В отличие от большинства других нейрогенетических синдромов с известным молекулярным дефектом, ДНК-тестирование при синдромах Айкарди и Пьера-Робена остается весьма сложной задачей, и основное внимание в диагностике заболевания принадлежит комплексному клинико-нейровизуализационному исследованию. Своевременное распознавание данных синдромов представляет собой непростую задачу, решение которой требует большого клинического опыта, практических знаний не только в неврологии, но и в смежных областях медицины.

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