r-n-jРоссийский неврологический журналRussian neurological journal2658-79472686-7192МИА10.30629/2658-7947-2026-31-3-35-42r-n-j-854Research ArticleИССЛЕДОВАНИЯ И КЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCLINICAL RESEARCHES AND CASE REPORTSТуберозный склероз (болезнь Бурневилля): клиническое наблюдение и современные аспекты диагностикиTuberculous sclerosis (Burneville disease): case report and modern aspects of diagnosishttps://orcid.org/0000-0002-7682-6672МаксимоваМ. Ю.MaksimovaM. Yu.

Москва

Moscow

ncnmaximova@mail.ruhttps://orcid.org/0009-0009-7105-3103АббасоваЕ. М.AbbasovaE. M.

Москва

Moscow

abbasova.e.m@neurology.ruhttps://orcid.org/0000-0002-7083-2676ДукуевУ. Р.DukuevU. R.

Москва

Moscow

dukuev@neurology.ruhttps://orcid.org/0000-0003-2035-3324ВасильеваЕ. В.Vasil’evaE. V.

Москва

Moscow

vasiljeva.e.v@neurology.ruФГБНУ «Российский центр неврологии и нейронаук»РоссияRussian Center for Neurology and NeurosciencesRussian Federation2026310820263133542Copyright © Максимова М.Ю., Аббасова Е.М., Дукуев У.Р., Васильева Е.В., 20262026Максимова М.Ю., Аббасова Е.М., Дукуев У.Р., Васильева Е.В.Maksimova M.Y., Abbasova E.M., Dukuev U.R., Vasil’eva E.V.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/854

Туберозный склероз (болезнь Бурневилля) представляет собой генетически детерминированное заболевание из группы факоматозов с аутосомно-доминантным типом наследования. Патоморфологическую основу заболевания составляет развитие гамартом в различных органах и системах. В статье представлено клиническое наблюдение пациента с диагнозом туберозного склероза, установленным в возрасте 24 лет, в соответствии с критериями Международного консенсуса 2021 года. Диагноз подтвержден совокупностью больших признаков: наличием более трех гипомеланотических пятен, а также обнаружением при нейровизуализации множественных кортикальных туберов, миграционных трактов и более двух субэпендимальных узлов. Приведены сведения об эпидемиологии, особенностях клинической картины и течении заболевания. Подробно рассматриваются современные диагностические критерии, включая интерпретацию вариантов неопределенного значения при генетическом тестировании, и вопросы дифференциальной диагностики.

Tuberous sclerosis complex (TSC), also known as Bourneville disease, is an autosomal dominant orphan disease belonging to the group of phakomatoses. Morphologically, TSC is characterized by systemic hamartomas. This article presents a case of a patient diagnosed with TSC at the age of 24 according to the 2021 International TSC Clinical Consensus criteria. The diagnosis of TSC was established by the presence of more than three hypomelanotic macules, multiple cortical tubers and radial migration lines, and more than two subependymal nodules. This case report provides an overview of the epidemiology, clinical features, and diff erential diagnosis of TSC. Furthermore, it discusses the actual diagnostic criteria, including the value of fi nding genetic variants of unknown signifi cance in the diagnosis of TSC.

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