epilepsiaEpilepsy and paroxysmal conditionsЭпилепсия и пароксизмальные состояния2077-83332311-4088IRBIS LLC10.17749/2077-8333/epi.par.con.2024.182epilepsia-1041Research ArticleSCIENTIFIC SURVEYSНАУЧНЫЕ ОБЗОРЫDe Vivo disease (myoclonic-astatic epilepsy combined with chorea): literature review, clinical case descriptionБолезнь де Виво (сочетание миоклонико-астатической эпилепсии и хореи): литературный обзор, описание клинического наблюденияhttps://orcid.org/0000-0003-3635-5850ШоваН. И.ShovaN. I.

Шова Наталья Игоревна – к.м.н., старший научный сотрудник отделения лечения больных с экзогенно-органическими расстройствами и эпилепсией.

ул. Бехтерева, д. 3, Санкт-Петербург 192019

WоS ResearcherID AAI-3755-2020; Scopus Author ID 57215893698

Natalia I. Shova – MD, PhD, Senior Researcher, Department for Treatment of Patients with Exogenous Organic Disorders and Epilepsy, Bekhterev National Medical Research Centre for Psychiatry and Neurology.

3 Bekhterev Str., Saint Petersburg 192019

WоS ResearcherID AAI-3755-2020; Scopus Author ID 57215893698

skins_cassi@outlook.comhttps://orcid.org/0000-0002-7700-2704МихайловВ. А.MikhailovV. A.

Михайлов Владимир Алексеевич – д.м.н., главный научный сотрудник и научный руководитель отделения лечения больных с экзогенно-органическими расстройствами и эпилепсией и отделения реабилитации пациентов с психосоматическими расстройствами.

ул. Бехтерева, д. 3, Санкт-Петербург 192019

WоS ResearcherID B-3272-2017

Vladimir A. Mikhailov – Dr. Med. Sc., Chief Researcher, Scientific Supervisor, Department for Treatment of Patients with Exogenous Organic Disorders and Epilepsy, Department for Integrative Therapy of Patients of Neuropsychiatric Profile, Bekhterev National Medical Research Centre for Psychiatry and Neurology.

3 Bekhterev Str., Saint Petersburg 192019

WоS ResearcherID B-3272-2017

https://orcid.org/0000-0003-2139-7505РоманюгоГ. Д.RomanyugoG. D.

Романюго Григорий Дмитриевич – врач-ординатор отделения лечения больных с экзогенно-органическими расстройствами и эпилепсией.

ул. Бехтерева, д. 3, Санкт-Петербург 192019

Grigory D. Romanyugo – Resident Physician, Department for Treatment of Patients with Exogenous Organic Disorders and Epilepsy, Bekhterev National Medical Research Centre for Psychiatry and Neurology.

3 Bekhterev Str., Saint Petersburg 192019

Федеральное государственное бюджетное учреждение «Национальный медицинский исследовательский центр психиатрии и неврологии им. В.М. Бехтерева» Министерства здравоохранения Российской ФедерацииРоссияBekhterev National Medical Research Center for Psychiatry and NeurologyRussian Federation202430062024162145156Copyright © Shova N.I., Mikhailov V.A., Romanyugo G.D., 20242024Шова Н.И., Михайлов В.А., Романюго Г.Д.Shova N.I., Mikhailov V.A., Romanyugo G.D.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/1041

De Vivo disease is a rare genetic disorder associated with glucose transporter type 1 (GLUT1) deficiency. We provide a review of publications describing various clinical manifestations of this syndrome, including the combination of epilepsy with choreic hyperkinesis. The seizures related to De Vivo disease are resistant to basic antiepileptic therapy. The ketogenic diet is suggested as the main treatment method. We present our own clinical observation describing an 18-years old male patient, who had myoclonic-astatic seizures and atactic manifestations such as impaired movements coordination and walking instability, which first appeared at the age of 1.5 years. Due to therapy with valproic acid drugs, seizures persisted with a frequency of up to 5 times a month. From the age of 17, involuntary violent irregular movements of trunk and limb muscles emerged, occurring at a fast pace. The patient underwent a comprehensive examination; as a result, the diagnosis of De Vivo disease was verified. By prescribing proper antiepileptic therapy and ketogenic diet, it was possible to stabilize the patient's condition and stop De Vivo disease-related manifestations of epilepsy and hyperkinetic disorder. We pay attention to the differential diagnosis of conditions characterized by epileptic seizures, mental retardation and violent movements, as well as to the diagnosis and management tactics of patients with De Vivo disease. Unfortunately, not all patients with this pathology receive adequate pathogenetic and symptomatic therapy often undergoing numerous hospitalizations, since the major cause underlying such symptoms, namely GLUT1 deficiency, is not diagnosed.

Болезнь де Виво является редким генетическим нарушением, связанным с дефицитом транспортера глюкозы 1-го типа (англ. glucose transporter type 1, GLUT1). В статье представлен обзор публикаций, в которых описаны различные клинические проявления заболевания, включая сочетание эпилепсии с хореическим гиперкинезом. Отмечается резистентность приступов к базовой антиэпилептической терапии, в качестве основного метода лечения предлагается кетогенная диета. Приведено собственное клиническое наблюдение 18-летнего пациента, у которого с 1,5 лет впервые возникли миоклонико-астатические приступы и атактические проявления в виде нарушения координации движений и неустойчивости при ходьбе. На фоне терапии препаратами вальпроевой кислоты приступы сохранялись с частотой до 5 раз в месяц. С 17 лет появились непроизвольные насильственные нерегулярные движения мышц туловища и конечностей, совершающиеся в быстром темпе. Проведено комплексное обследование, в результате верифицирован диагноз «болезнь де Виво». Путем назначения адекватной противоэпилептической терапии и кетогенной диеты удалось стабилизировать состояние больного, купировать проявления эпилепсии и гиперкинетического расстройства. Мы обращаем внимание специалистов на дифференциальную диагностику состояний, характеризующихся эпилептическими приступами, умственной отсталостью и насильственными движениями, а также на диагностику и тактику ведения пациентов с болезнью де Виво. К сожалению, не все больные с данной патологией получают адекватную патогенетическую и симптоматическую терапию. Зачастую пациенты подвергаются многочисленным госпитализациям, т.к. не диагностирована основная причина симптомов, а именно дефицит GLUT1.

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