Clinical characteristics of Chinese neonates with neonatal-onset multisystem inflammatory disease: a case report and literature review.

ABSTRACT:

Background

Neonatal-onset multisystem inflammatory disease (NOMID) is a rare and severe autoinflammatory disease caused by mutations of the NLRP3 gene and is characterized by a skin rash, fever, arthropathy, and neurologic manifestations. We herein report a neonatal case with recurrent rash, fever, and meningitis from 12 h after birth, and NOMID was diagnosed during the neonatal period. We also reviewed the clinical characteristics and genetic mutations of previously reported Chinese neonates with NOMID.

Case presentation and literature review

NOMID is rare in China, and there have been over 100 cases uncovered thus far, including ours. The patient we reported here was the youngest among the confirmed Chinese cases and had the de novo mutation c.1210G>C (p.V404

SUBMITTER: Zhao C 

PROVIDER: S-EPMC10799342 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature