Table 3_Neonatal-onset multisystem inflammatory disease caused by a de novo NLRP3 gene mutation: a case report and literature review.docx

BackgroundNeonatal-onset multisystem inflammatory disease (NOMID) is a rare autoinflammatory disease caused by NLRP3 mutations, leading to excessive interleukin-1β activation and potential irreversible organ damage.
Case descriptionWe report a female neonate presenting at birth with urticaria-like rash, intermittent fever, aseptic meningitis, lymphadenopathy, and polyarthritis with persistently elevated inflammatory markers. Whole-exome sequencing revealed a heterozygous de novo NLRP3 mutation (c.2263G>A, p.Gly755Arg), confirmed as pathogenic. Conventional therapies, including antibiotics, corticosteroids, and antihistamines, failed to achieve symptom control. Canakinumab (2–3 mg/kg per 8 weeks) was initiated, leading to rapid resolution of fever, rash, and inflammatory markers, and successful induction of clinical and biochemical remission with canakinumab during the 13-month follow-up.
ConclusionThis case highlights the importance of early recognition of NOMID in neonates with antibiotic-unresponsive systemic inflammation. Early genetic confirmation and targeted IL-1 blockade with canakinumab are crucial to preventing devastating complications.