Atypical late presentation in neonatal-onset multisystem inflammatory disease (NOMID)

Abstract

The authors report a sporadic case of a rare periodic fever, the neonatal onset multisystem inflammatory disease. A 7-year-old boy presented with symptoms since the age of two. He had recurrent episodes of fever, rash and meningitis, progressive hearing loss, arthralgia and failure of growth. His examination revealed mild dysmorphic features, clubbing, wasting, stunting, and erythema nodosum like rash on the limbs, healed posterior uveitis and chorioretinitis, mild spasticity in lower limbs, deafness and borderline intelligence quotient. Investigations revealed dextrocardia, situs inversus, absence of autoimmune markers, and elevated erythrocyte sedimentation rate. Neuroimaging showed gliotic areas in bilateral cerebellar hemispheres. Genetic screen for mutations in all nine exons of NLRP3 was negative. The clinical features, variability in severity and possible genetic mechanisms are discussed.