Al Masroori Eman, Mal Mahadev J, Abdwani Reem
Department of Child Health, Sultan Qaboos University Hospital, University Medical City, Muscat, Oman.
Sultan Qaboos Univ Med J. 2025 May 2;25(1):515-520. doi: 10.18295/2075-0528.2864. eCollection 2025.
Neonatal-onset multisystem inflammatory disease (NOMID) and familial Mediterranean fever (FMF) are distinct entities within the expanding spectrum of systemic autoinflammatory diseases (SAIDs). We report a 3-month-old infant who presented with recurrent fever, urticarial rash, and polyarthritis. After excluding other causes, anakinra was initiated based on clinical suspicion of NOMID. Despite treatment optimisation, she continued to experience disease flares. An initial autoinflammatory panel and subsequent whole-exome sequencing revealed heterozygous (M694V and V726A) gene mutations, which did not explain the clinical picture. Further deep sequencing identified NLRP3 (p.Asp305Glu) somatic mosaicism, confirming NOMID. The coexistence of NOMID and FMF presented significant diagnostic and therapeutic challenges. Disease activity stabilised after colchicine was added. Clinicians should consider somatic mosaicism in mutation-negative NOMID cases. In coexisting SAIDs, treatment should address both diseases to optimise outcomes.
新生儿期起病的多系统炎症性疾病（NOMID）和家族性地中海热（FMF）是系统性自身炎症性疾病（SAIDs）不断扩展的范畴内的不同实体。我们报告一名3个月大的婴儿，其表现为反复发热、荨麻疹样皮疹和多关节炎。在排除其他病因后，基于临床怀疑NOMID开始使用阿那白滞素治疗。尽管优化了治疗，但她仍持续出现疾病发作。最初的自身炎症指标检测及随后的全外显子测序显示存在杂合（M694V和V726A）基因突变，但这无法解释临床表现。进一步的深度测序确定了NLRP3（p.Asp305Glu）体细胞镶嵌现象，从而确诊为NOMID。NOMID和FMF并存带来了重大的诊断和治疗挑战。添加秋水仙碱后疾病活动度稳定。临床医生在突变阴性的NOMID病例中应考虑体细胞镶嵌现象。在并存的SAIDs中，治疗应兼顾两种疾病以优化治疗效果。
