Тяжелая гипокальциемия у подростка как единственное проявление синдрома микроделеции 22q11: описание клинического случая

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

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