vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v20i4.2287vsp-2700Research ArticleКЛИНИЧЕСКОЕ НАБЛЮДЕНИЕCLINICAL OBSERVATIONSМутация в гене CREBBP у девочки с синдромом ходьбы на носках: клинический случайMutation in the CREBBP Gene in the Girl with Toe Walking Syndrome: Clinical Casehttps://orcid.org/0000-0002-2592-9348ПомариноД.PomarinoDavid

22143, Гамбург, Ральштедтер Банхофштрассе, 9

Hamburg

ТренА.ThrenAnneke

22143, Гамбург, Ральштедтер Банхофштрассе, 9

Hamburg

https://orcid.org/0000-0001-6049-3511ТренДж. Р.ThrenJohanna R.

22143, Гамбург, Ральштедтер Банхофштрассе, 9

Hamburg

https://orcid.org/0000-0002-2180-5321РостазиК.RostasyKevin

Даттельн

Datteln

https://orcid.org/0000-0003-0108-486XЕмелинаА. А.EmelinaAnna A.

Емелина Анна Александровна - кандидат медицинских наук, научный сотрудник Праксис Помарино

22143, Гамбург, Ральштедтер Банхофштрассе, 9, тел.: +49 (040) 513 20 880

Hamburg

anna.emelina@web.deПраксис ПомариноГерманияPraxis PomarinoGermanyЦентр детской неврологии и социальной педиатрииГерманияCenter for Pediatric Neurology and Social PediatricsGermany202124102021204310315Copyright © Помарино Д., Трен А., Трен Д.Р., Ростази К., Емелина А.А., 20212021Помарино Д., Трен А., Трен Д.Р., Ростази К., Емелина А.А.Pomarino D., Thren A., Thren J.R., Rostasy K., Emelina A.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://vsp.spr-journal.ru/jour/article/view/2700Обоснование

Обоснование. Патогенные варианты гена CREBBP выявлены у пациентов с синдромами Рубинштейна-Тейби и Менке-Хеннекама, однако симптом ходьбы на носках при данных патологиях не упоминается.

Описание клинического случая. У 9-летней пациентки с рефрактерной ходьбой на носках и задержкой речевого развития в гене CREBBP обнаружен патогенный нуклеотидный вариант c.5600G>A в гетерозиготном состоянии. Аномалии, характерные для синдрома Рубинштейна-Тейби отсутствовали, однако наблюдались признаки синдрома Менке-Хеннекама.

Заключение

Заключение. Описана генетическая аномалия, ассоциированная с ходьбой на носках. Это наблюдение позволяет критически отнестись к гипотезе об идиопатическом генезе данной формы нарушения походки при отсутствии явных неврологических или ортопедических причин ее развития.

Baclground

Baclground. Pathogenic variants of the CREBBP gene have been revealed in patients with Rubinstein-Taybi and Menke-Hennekam syndromes, however, the toe walking symptom was not mentioned in these pathologies.

Clinical Case Description. The pathogenic nucleotide variant c.5600G>A in heterozygous state in the CREBBP gene was revealed in our 9-year-old female patient with refractory toe walking and developmental speech delay. There were no abnormalities typical for Rubinstein-Taybi syndrome, but there were several signs of Menke-Hennekam syndrome.

Conclusion

Conclusion. The genetic anomaly associated with toe walking is described. This observation allows us to critically relate to the hypothesis about the idiopathic genesis of this form of gait disorder at the absence of obvious neurological or orthopedic causes of its development.

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