Russian Journal of Child NeurologyRussian Journal of Child NeurologyРусский журнал детской неврологии2073-88032412-9178Publishing House ABV Press43310.17650/2073-8803-2023-18-1-46-51CLINICAL OBSERVATIONSКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCTNNB1 syndrome (CTNNB1-NDD) in a child with cerebral palsy: a case reportСиндром CTNNB1 (CTNNB1-NDD) у ребенка с детским церебральным параличом: описание клинического случаяGolosnayaG. S.ГолоснаяГ. С.
Russian Federation

Galina Stanislavovna Golosnaya, Department of Neurology

10 Studencheskaya St., Voronezh 394036

Галина Станиславовна Голосная, кафедра неврологии

394036 Воронеж, ул. Студенческая, 10

ggolosnaya@yandex.ruhttps://orcid.org/0000-0001-7197-6009ErmolenkoN. A.ЕрмоленкоН. А.
Russian Federation

Department of Neurology

10 Studencheskaya St., Voronezh 394036

кафедра неврологии

394036 Воронеж, ул. Студенческая, 10

https://orcid.org/0000-0003-4796-7334KrasnorutskayaO. N.КрасноруцкаяО. Н.
Russian Federation

Department of Polyclinic Pediatrics

10 Studencheskaya St., Voronezh 394036

кафедра поликлинической педиатрии

394036 Воронеж, ул. Студенческая, 10

https://orcid.org/0000-0001-7029-9317EfimovaV. L.ЕфимоваВ. Л.
Russian Federation

Department of Age Psychology and Family Pedagogy

48 Naberezhnaya Reki Moyki, Saint Petersburg 191186

кафедра возрастной психологии и педагогики семьи

191186 Санкт-Петербург, Набережная реки Мойки, 48

https://orcid.org/0000-0002-8739-7498LarionovaT. A.ЛарионоваТ. А.
Russian Federation

Build. 2, 61 Vavilova St., Moscow 117292

117292 Москва, ул. Вавилова, 61, стр. 2

https://orcid.org/0009-0003-1327-9522TysyachinaM. D.ТысячинаМ. Д.
Russian Federation

Build. 2, 23 Novocheremushkinskaya St., Moscow 117218

117218 Москва, ул. Новочеремушкинская, 23, корп. 2

N. N. Burdenko Voronezh State Medical UniversityФГБОУ ВО «Воронежский государственный медицинский университет им. Н. Н. Бурденко»A. I. Herzen Russian State Pedagogical UniversityФГБОУ ВО «Российский государственный педагогический университет им. А. И. Герцена»V. V. Vinogradov City Clinical Hospital, Moscow Healthcare DepartmentГБУЗ «Городская клиническая больница им. В. В. Виноградова ДЗМ»Medical Center «Consultative and diagnostic epileptological care», “Epihelp” clinicООО «КДЭП», клиника “Epihelp”1501202318146512606202326062023Copyright ©; 2023, ABV-PressCopyright ©; 2023, АБВ-пресс2023ABV-PressАБВ-прессhttps://rjdn.abvpress.ru/jour/about/editorialPolicieshttps://rjdn.abvpress.ru/jour/article/view/433

In this article, we report a case of CTNNB1 syndrome (CTNNB1-NDD) in a child with cerebral palsy and also provide a literature review on the problem. CTNNB1 syndrome is an exceedingly rare and poorly studied disorder, which makes it particularly interesting due the difficulties associated with its diagnosis and description of the disease phenotype, as well as highly polymorphic clinical manifestations. Verification of the diagnosis is important to determine the prognosis of a child with cerebral palsy and visual impairment, as well as for reproductive planning in the family.

В статье представлены данные литературы и случай диагностики синдрома CTNNB1 (CTNNB1-NDD) у ребенка с церебральным параличом. Это состояние относится к редким заболеваниям, мало изучено и представляет интерес в связи с трудностью диагностики, относительно сложным описанием фенотипа и клиническим полиморфизмом проявлений. Верификация диагноза важна для определения прогноза у ребенка с церебральным параличом и нарушением зрения, а также для репродуктивного планирования в семье.

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