患儿男，生后16 d，因反复发热伴皮疹14 d，抗感染治疗无效入院。临床表现为持续炎症指标升高、多系统（皮肤、神经系统、心脏）受累及特殊面容（前额突出、鼻梁塌陷）。基因检测发现患儿存在NLRP3基因c.2269G>A（p.Gly757Arg）新发杂合可能致病灶变异，结合临床确诊为新生儿发病的多系统炎症性疾病（neonatal-onset multisystem inflammatory disease, NOMID）。产前超声提示静脉导管缺如及双侧侧脑室扩张，该表现拓展了NOMID的产前超声表型谱。该病例提示，对新生儿期出现不明原因发热、皮疹、抗感染无效伴特殊面容者，若存在产前静脉导管或脑室异常，应高度警惕NOMID可能，尽早行基因检测以明确诊断并指导干预。

A 16-day-old male infant was hospitalized because of recurrent fever with rash for 14 days, unresponsive to anti-infective therapy. Clinical features included persistently elevated inflammatory markers, multisystem involvement (skin, nervous system, and heart), and facial dysmorphism (frontal bossing and saddle nose). Genetic testing revealed a de novo heterozygous, likely pathogenic NLRP3 variant (c.2269G>A, p.Gly757Arg). In combination with clinical findings, neonatal-onset multisystem inflammatory disease (NOMID) was diagnosed. Prenatal ultrasonography showed absence of the ductus venosus and bilateral ventriculomegaly, expanding the prenatal sonographic phenotype of NOMID. This case suggests that in neonates with unexplained fever, rash, poor response to anti-infective treatment, and facial dysmorphism, the presence of prenatal ultrasound abnormalities such as absent ductus venosus or ventriculomegaly should raise clinical suspicion for NOMID, and early genetic testing is recommended to confirm the diagnosis and guide intervention. Citation:Chinese Journal of Contemporary Pediatrics, 2026, 28(1): 111-114