1例染色体16p13.3微重复综合征患儿呼吸系统疾病及潜在癫痫发作风险的处理

IF 1.3 Q3 MEDICINE, GENERAL & INTERNAL
Cureus Pub Date : 2025-10-01 DOI:10.7759/cureus.93668
Mikaela A Lee, Travis Smith, Katarzyna Madejczyk
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引用次数: 0

摘要

本病例报告概述了一个16个月大的女孩染色体16p13.3微重复综合征谁提出了急性呼吸道疾病的管理。对于群、肺炎和中耳炎的体征和症状,该患者需要多次给药外消旋肾上腺素、类固醇和沙丁胺醇以减轻炎症和呼吸窘迫。患有潜在疾病和遗传综合征的儿童在急性疾病的情况下可能有更复杂的临床病程。因此,这些患者需要比标准方案更密集的干预和更长时间的监测。在这种情况下,治疗方案是精心定制的,特别注意最小化癫痫发作活动的风险。此外,该病例强调需要进一步探索呼吸系统疾病与潜在癫痫发作障碍之间的相互作用。患者的表现强调了神经学观察和多学科方法的重要性,以确保最好的结果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Management of Respiratory Illness in a Pediatric Patient With Chromosome 16p13.3 Microduplication Syndrome and Potential Seizure Risk.

Management of Respiratory Illness in a Pediatric Patient With Chromosome 16p13.3 Microduplication Syndrome and Potential Seizure Risk.

Management of Respiratory Illness in a Pediatric Patient With Chromosome 16p13.3 Microduplication Syndrome and Potential Seizure Risk.

Management of Respiratory Illness in a Pediatric Patient With Chromosome 16p13.3 Microduplication Syndrome and Potential Seizure Risk.

This case report outlines the management of a 16-month-old girl with chromosome 16p13.3 microduplication syndrome who presented with an acute respiratory illness. For signs and symptoms of croup, pneumonia, and otitis media, this patient required multiple administrations of racemic epinephrine, steroids, and albuterol to reduce inflammation and alleviate respiratory distress. Children with underlying medical conditions and genetic syndromes are likely to have a more complicated clinical course in the setting of acute illnesses. Thus, these patients require more intensive interventions and prolonged monitoring than the standard protocols. In this case, the treatment regimen was carefully tailored, with special attention to minimizing the risk of seizure activity. Furthermore, this case highlights the need for further exploration of the interaction between respiratory illnesses and underlying seizure disorders. The patient's presentation underscores the importance of neurological observation and a multidisciplinary approach to ensure the best possible outcome.

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