Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press60510.17650/2222-8721-2024-14-2-68-77CLINICAL CASEКЛИНИЧЕСКИЙ РАЗБОРEBF3-associated hypotonia, ataxia and delayed development syndrome – the mask cerebral palsy (case report)EBF3-ассоциированный синдром гипотонии, атаксии и задержки психического развития – маска церебрального паралича (описание клинического случая)https://orcid.org/0000-0002-8752-4071AfandievaL. Z.АфандиеваЛ. З.
Russian Federation

49 Butlerova St., Kazan 420012

420012 Казань,  ул. Бутлерова, 49

https://orcid.org/0000-0002-4255-9107GaynetdinovaD. D.ГайнетдиноваД. Д.
Russian Federation

49 Butlerova St., Kazan 420012

420012 Казань,  ул. Бутлерова, 49

https://orcid.org/0000-0002-9967-0279ID. V.ИД. В.
Russian Federation

Dmitriy Vitalyevich I

35 Muravyova-Amurskogo St., Khabarovsk 680000

Дмитрий Витальевич И

680000 Хабаровск, ул. Муравьева-Амурского, 35

i.dima.email@gmail.comKazan State Medical University, Ministry of Health of RussiaФГБОУ ВО «Казанский государственный медицинский университет» Минздрава РоссииFar Eastern State Medical University, Ministry of Health of RussiaФГБОУ ВО «Дальневосточный государственный медицинский университет» Минздрава России240520241422405202424052024Copyright ©; 2024, Afandieva L.Z., Gaynetdinova D.D., I D.V.Copyright ©; 2024, Афандиева Л.З., Гайнетдинова Д.Д., И Д.В.2024Afandieva L.Z., Gaynetdinova D.D., I D.V.Афандиева Л.З., Гайнетдинова Д.Д., И Д.В.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/605

Pathogenetic nucleotide variants at many genetic loci can cause conditions like cerebral palsy. Establishing the etiologic diagnosis is clinically important for optimal disease management and treatment.

The presented family case demonstrates a clinical polymorphism associated with variants in the EBF3 gene that impaired transcription regulation. The described variant c.703C>T (p.His235Tyr) in the EBF3 leads to severe motor and intellectual disability mimicking cerebral palsy.

Timely detection of monogenic diseases hiding under the mask of cerebral palsy will help to establish a timely diagnosis and conduct medical and genetic counseling to prevent recurrent cases in the family.

Патогенные нуклеотидные варианты во многих генетических локусах могут вызывать состояния, подобные церебральному параличу. Установление этиологического диагноза имеет важное клиническое значение для оптимального менеджмента заболевания и его лечения.

Представленный семейный случай демонстрирует клинический полиморфизм, ассоциированный с вариантами в гене EBF3, нарушающими регуляцию транскрипции. Описанный нами вариант c.703C>T (p.His235Tyr) в гене EBF3 приводит к тяжелым двигательным и интеллектуальным нарушениям, имитирующим церебральный паралич. Своевременное выявление моногенных заболеваний, скрывающихся под маской церебрального паралича, поможет в ранние сроки установить диагноз и провести медико‑генетическое консультирование для профилактики повторных случаев в семье.

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