vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v22i3.2571vsp-3228Research ArticleКЛИНИЧЕСКОЕ НАБЛЮДЕНИЕCLINICAL OBSERVATIONSТяжелая гипокальциемия у подростка как единственное проявление синдрома микроделеции 22q11: описание клинического случаяSevere Hypocalcemia in the Adolescent as the Only Manifestation of 22q11 Microdeletion Syndrome: Clinical Casehttps://orcid.org/0009-0004-8775-9630ВечкасоваА. О.VechkasovaAnastasia O.

Санкт-Петербург

Saint-Petersburg

https://orcid.org/0000-0002-2335-3023БучинскаяН. В.BuchinskayaNatalia V.

Санкт-Петербург

Saint-Petersburg

https://orcid.org/0000-0002-1180-8086КостикМ. М.KostikMikhail M.

Костик Михаил Михайлович - доктор медицинских наук, профессор кафедры госпитальной терапии.

194100, Санкт-Петербург, ул. Литовская, д. 2,  тел.: +7 (812) 416-52-98

Saint-Petersburg

kost-mikhail@yandex.ruСЗГМУ им. И.И. Мечникова; Диагностический центр (медико-генетический)РоссияNorth-West State Medical University named after I.I. Mechnikov; Diagnostic Center (Medical Genetics)Russian FederationДиагностический центр (медико-генетический)РоссияDiagnostic Center (Medical Genetics)Russian FederationСПбГПМУ; НМИЦ им. В.А. АлмазоваРоссияSaint-Petersburg State Pediatric Medical University; Almazov National Medical Research CentreRussian Federation202308072023223271276Copyright © Вечкасова А.О., Бучинская Н.В., Костик М.М., 20232023Вечкасова А.О., Бучинская Н.В., Костик М.М.Vechkasova A.O., Buchinskaya N.V., Kostik M.M.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/3228Обоснование

Обоснование. В данной статье приводится описание атипичной клинической картины и течения синдрома микроделеции 22q11 у пациента без специфических фенотипических признаков и симптомов, характерных для данного заболевания.

Описание клинического случая. Пациент мужского пола, в возрасте 13 лет впервые был госпитализирован с судорожным приступом, множественными переломами позвоночника, причиной которых была гипокальциемия. После стационарного лечения был направлен к врачу-ревматологу и далее к врачу-генетику. В круг дифференциальной диагностики, помимо метаболических заболеваний скелета, входил синдром делеции 22q11, который в дальнейшем был подтвержден при проведении FISH-диагностики.

Заключение

Заключение. Данный клинический пример еще раз доказывает уникальность каждого случая, а также необходимость всестороннего подхода к диагностике и ведению таких пациентов.

Background

Background. In this article, we would like to describe the atypical clinical picture and course of 22q11 microdeletion syndrome in a patient without specific phenotypic signs and symptoms typical for this disease.

Clinical case description. Male patient, 13 years old, was hospitalized for the first time with seizure and multiple spinal fractures caused by hypocalcemia. He was referred to rheumatologist and clinical geneticist after hospital stay. Differential diagnosis included not only various bones metabolic diseases, but also 22q11 deletion syndrome. Later it was confirmed via FISH test.

Conclusion

Conclusion. This clinical case proves once again the uniqueness of every single case, as well as the importance of comprehensive approach to the diagnosis and management of such patients.

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