Zhang Wenxue, Wang Mengyuan, Xu Lei, Wang Shifu
Department of Clinical Microbiology, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, People's Republic of China.
Department of Clinical Microbiology, Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan, People's Republic of China.
Infect Drug Resist. 2025 Aug 22;18:4241-4248. doi: 10.2147/IDR.S541464. eCollection 2025.
. predominantly , are recognized respiratory pathogens, while soft tissue infections caused by non-pneumophila species remain exceptionally rare. We present the first documented case of soft tissue infection in an infant worldwide. The patient presented with fever accompanied by occipital, anterior thoracic, and wrist masses. Diagnosis was confirmed through metagenomic next-generation sequencing (mNGS) of tissue samples with histopathological correlation. Initial empiric therapy with vancomycin and cefotaxime yielded no clinical improvement. Subsequent mNGS analysis of cerebrospinal fluid and lesional tissue identified infection, prompting targeted antimicrobial therapy with levofloxacin and rifampicin that resulted in clinical resolution. A review of historical cases reveals that soft tissue infections typically occur in immunocompromised hosts or those receiving immunosuppressive therapies, and this association prompted an investigation into possible congenital immunodeficiency in our patient. Whole exome sequencing coupled with Sanger sequencing validation identified a pathogenic mutation in the gene, confirming X-linked severe combined immunodeficiency (X-SCID) in the infant and carrier status in the mother. This case highlights three paradigm-shifting concepts in pediatric infectious disease management, including 1) should be included in the differential diagnosis of pediatric soft tissue infections refractory to standard therapy, 2) underlying immunodeficiency must be systematically evaluated in pediatric patients with atypical infections, and 3) the diagnostic utility of mNGS in identifying fastidious pathogens and underscore the importance of genomic investigations in elucidating immunological comorbidities.
主要是公认的呼吸道病原体,而非嗜肺军团菌属引起的软组织感染仍然极为罕见。我们报告了全球首例婴儿软组织感染的记录病例。该患者出现发热,伴有枕部、胸前部和腕部肿块。通过组织样本的宏基因组下一代测序(mNGS)并结合组织病理学相关性确诊。最初使用万古霉素和头孢噻肟的经验性治疗未取得临床改善。随后对脑脊液和病变组织进行的mNGS分析确定了感染,促使使用左氧氟沙星和利福平进行靶向抗菌治疗,最终实现了临床治愈。对既往病例的回顾显示,软组织感染通常发生在免疫功能低下的宿主或接受免疫抑制治疗的患者中,这种关联促使我们对该患者可能存在的先天性免疫缺陷进行调查。全外显子组测序结合桑格测序验证在该基因中发现了一个致病突变,证实该婴儿患有X连锁严重联合免疫缺陷(X-SCID),其母亲为携带者。本病例突出了儿科传染病管理中的三个范式转变概念,包括1)在对标准治疗难治的儿科软组织感染的鉴别诊断中应考虑到;2)对于患有非典型感染的儿科患者,必须系统评估潜在的免疫缺陷;3)mNGS在识别苛养病原体方面的诊断效用,并强调了基因组研究在阐明免疫合并症方面的重要性。