Umeyama Yuriko, Tanaka Hiroyuki, Ota Hidehito, Kajiho Yuko, Kinumaki Akiko
Department of Pediatrics, The University of Tokyo, Tokyo, JPN.
Cureus. 2024 Feb 11;16(2):e54038. doi: 10.7759/cureus.54038. eCollection 2024 Feb.
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.
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。