Neonatal onset multisystem inflammatory disease (NOMID): Case report

Neonatal onset multisystem inflammatory disease is a rare autoinflammatory disorder. Clinical features include fever episodes, urticarial rash, arthralgia and arthritis, eyes and central nervous system involvement. It belongs to the group of cryopyrin-associated periodic syndromes which result from a gain-of-function mutations of the NLRP3 gene on chromosome 1p44 that encodes the cryopyrin protein. Defects lead to overproduction of inflammatory cytokines involved in the innate immune system, especially interleukin 1.This article reports a clinical case of a 6-year-old boy, who presented with first clinical signs of the disease soon after birth. We present a diagnostic approach in a case of suspected periodic fever syndrome. It is based on exclusion of infections, primary immunodeficiencies, autoimmune and malignant disorders. For confirmation of the disease, genetic analysis is mandatory. The patient was successfuly treated with biological medications which block interleukin 1.