{"title":"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","authors":"Mikaela A Lee, Travis Smith, Katarzyna Madejczyk","doi":"10.7759/cureus.93668","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":93960,"journal":{"name":"Cureus","volume":"17 10","pages":"e93668"},"PeriodicalIF":1.3000,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12488218/pdf/","citationCount":"0","resultStr":"{\"title\":\"Management of Respiratory Illness in a Pediatric Patient With Chromosome 16p13.3 Microduplication Syndrome and Potential Seizure Risk.\",\"authors\":\"Mikaela A Lee, Travis Smith, Katarzyna Madejczyk\",\"doi\":\"10.7759/cureus.93668\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":93960,\"journal\":{\"name\":\"Cureus\",\"volume\":\"17 10\",\"pages\":\"e93668\"},\"PeriodicalIF\":1.3000,\"publicationDate\":\"2025-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12488218/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Cureus\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.7759/cureus.93668\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cureus","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.7759/cureus.93668","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
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.