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一名婴儿在频繁出现呼吸暂停发作后被诊断为22q11.2缺失综合征。

An Infant Diagnosed With 22q11.2 Deletion Syndrome Following Frequent Apneic Attacks.

作者信息

Umeyama Yuriko, Tanaka Hiroyuki, Ota Hidehito, Kajiho Yuko, Kinumaki Akiko

机构信息

Department of Pediatrics, The University of Tokyo, Tokyo, JPN.

出版信息

Cureus. 2024 Feb 11;16(2):e54038. doi: 10.7759/cureus.54038. eCollection 2024 Feb.

Abstract

22q11.2 deletion syndrome (DS) is a microdeletion syndrome that pediatricians may encounter. It has a distinctive presentation and is often diagnosed based on a few characteristic symptoms. However, 22q11.2 DS with apnea as the initial symptom has never been reported. In this report, we describe the case of a one-month-old infant diagnosed with 22q11.2 DS due to apneic attacks. Early diagnosis of 22q11.2 DS is crucial because it enables appropriate intervention.

摘要

22q11.2缺失综合征(DS)是儿科医生可能会遇到的一种微缺失综合征。它有独特的临床表现,通常根据一些特征性症状进行诊断。然而,以呼吸暂停为首发症状的22q11.2 DS从未被报道过。在本报告中,我们描述了一名因呼吸暂停发作被诊断为22q11.2 DS的1个月大婴儿的病例。22q11.2 DS的早期诊断至关重要,因为它能实现适当的干预。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf4d/10933687/a18adf48a5a1/cureus-0016-00000054038-i01.jpg

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