Pseudomonal Vasculopathy of the Central Nervous System in a 2-Year-Old Female With an IRAK4-Related Immunodeficiency.

IF 0.7 4区 医学 Q4 PATHOLOGY
Fetal and Pediatric Pathology Pub Date : 2025-03-01 Epub Date: 2025-01-23 DOI:10.1080/15513815.2025.2449948
Kayla Hoerschgen, Morgan Stottlemyre, Celeste Brancato, Louis P Dehner
{"title":"Pseudomonal Vasculopathy of the Central Nervous System in a 2-Year-Old Female With an IRAK4-Related Immunodeficiency.","authors":"Kayla Hoerschgen, Morgan Stottlemyre, Celeste Brancato, Louis P Dehner","doi":"10.1080/15513815.2025.2449948","DOIUrl":null,"url":null,"abstract":"<p><p><b>Background:</b> <i>Pseudomonas aeruginosa (PA)</i>, a gram-negative bacillus, has varied clinical manifestations with septicemia as the most lethal. PA infection is usually regarded as opportunistic and often nosocomial. <b>Case Presentation:</b> We present a case of a \"healthy\" pediatric patient presenting with upper respiratory symptoms who rapidly deteriorated. Blood cultures grew <i>Pseudomonas aeruginosa</i> shortly after death. The postmortem examination revealed Pseudomonal vasculopathy of the central nervous system and genetic testing detected an autosomal recessive pathogenic variant in IRAK-4. <b>Discussion:</b> Community-acquired Pseudomonal sepsis in previously healthy children is rare. Studies have found that up to 20% of children presenting with sepsis have an underlying immune defect. Deficiency of IRAK-4 predisposes patients to recurrent, life-threatening, microbial infections, notably Streptococcus pneumoniae, Staphylococcus aureus, and PA. <b>Conclusion:</b> A primary immunodeficiency should be suspected in a \"healthy\" child presenting with sepsis by an unexpected bacterium as the clinical consequences may be severe and the findings may have reproductive implications for the parents.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"131-137"},"PeriodicalIF":0.7000,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Fetal and Pediatric Pathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/15513815.2025.2449948","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/23 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"PATHOLOGY","Score":null,"Total":0}
引用次数: 0

Abstract

Background: Pseudomonas aeruginosa (PA), a gram-negative bacillus, has varied clinical manifestations with septicemia as the most lethal. PA infection is usually regarded as opportunistic and often nosocomial. Case Presentation: We present a case of a "healthy" pediatric patient presenting with upper respiratory symptoms who rapidly deteriorated. Blood cultures grew Pseudomonas aeruginosa shortly after death. The postmortem examination revealed Pseudomonal vasculopathy of the central nervous system and genetic testing detected an autosomal recessive pathogenic variant in IRAK-4. Discussion: Community-acquired Pseudomonal sepsis in previously healthy children is rare. Studies have found that up to 20% of children presenting with sepsis have an underlying immune defect. Deficiency of IRAK-4 predisposes patients to recurrent, life-threatening, microbial infections, notably Streptococcus pneumoniae, Staphylococcus aureus, and PA. Conclusion: A primary immunodeficiency should be suspected in a "healthy" child presenting with sepsis by an unexpected bacterium as the clinical consequences may be severe and the findings may have reproductive implications for the parents.

2岁女性irak4相关免疫缺陷的中枢神经系统假单胞性血管病变
背景:铜绿假单胞菌(Pseudomonas aeruginosa, PA)是一种革兰氏阴性杆菌,临床表现多样,以败血症最致命。PA感染通常被认为是机会性的,通常是院内感染。病例介绍:我们提出了一个“健康”的儿科患者的上呼吸道症状谁迅速恶化的情况。血培养在死后不久就产生了铜绿假单胞菌。尸检显示为中枢神经系统假单胞性血管病变,基因检测发现IRAK-4常染色体隐性致病变异。讨论:社区获得性假单胞菌败血症在以前健康的儿童是罕见的。研究发现,高达20%的败血症患儿有潜在的免疫缺陷。IRAK-4缺乏使患者易发生复发性、危及生命的微生物感染,特别是肺炎链球菌、金黄色葡萄球菌和PA。结论:当一个“健康”的孩子出现由意想不到的细菌引起的败血症时,应该怀疑是原发性免疫缺陷,因为其临床后果可能是严重的,而且这些发现可能对父母的生殖有影响。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
CiteScore
3.00
自引率
0.00%
发文量
68
审稿时长
6-12 weeks
期刊介绍: Fetal and Pediatric Pathology is an established bimonthly international journal that publishes data on diseases of the developing embryo, newborns, children, and adolescents. The journal publishes original and review articles and reportable case reports. The expanded scope of the journal encompasses molecular basis of genetic disorders; molecular basis of diseases that lead to implantation failures; molecular basis of abnormal placentation; placentology and molecular basis of habitual abortion; intrauterine development and molecular basis of embryonic death; pathogenisis and etiologic factors involved in sudden infant death syndrome; the underlying molecular basis, and pathogenesis of diseases that lead to morbidity and mortality in newborns; prenatal, perinatal, and pediatric diseases and molecular basis of diseases of childhood including solid tumors and tumors of the hematopoietic system; and experimental and molecular pathology.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信