A 1-week-old female neonate born at 34 weeks' gestational age presented with fever, diarrhea, cutaneous rash, elevated liver enzymes, and necrotizing funisitis (umbilical infection). The eye examination revealed a quiet anterior segment with bilateral chorioretinitis temporally (Figures 1A–1B). The characteristic chronic, non-pruritic spreading rash (Figures 1C–1D) led to the suspicion of neonatal onset multi-inflammatory disease (NOMID). This was then confirmed by genetic testing that was positive for the NLRP3 gene. NOMID, also called chronic infantile neurological cutaneous and articular syndrome (CINCA), is an autosomal dominant disease in which there is an overproduction of IL-1β (a proinflammatory cytokine) resulting from a mutation in the anti-inflammatory protein cryopyrin.1,2 NOMID is also characterized by optic disc abnormalities, joint inflammation, and atypical facies such as frontal bossing and saddle-back nose.2,3 The most common ocular manifestations are optic disc edema and bilateral anterior uveitis. Daily treatment with anakinra was initiated to block IL-1 pathways, resulting in a reduction of the rashes and joint problems.2 On reaching 15 kg, the patient was switched over to canakinumab every 4 to 8 weeks. The chorioretinitis patches regressed with no new lesions. The child's visual development has been normal to date.
- Oberg TJ, Vitale AT, Hoffman RO, Bohnsack JF, Warner JE. Cryopyrin-associated periodic syndromes and the eye, ocular immunology and inflammation. Ocul Immunol Inflamm. 2013;21:306–309. doi:10.3109/09273948.2013.765016 [CrossRef]
- Finetti M, Omenetti A, Federici S, Caorsi R, Gattorno M. Chronic infantile neurological cutaneous and articular (CINCA) syndrome: a review. Orphanet J Rare Dis. 2016;11:167. doi:10.1186/s13023-016-0542-8 [CrossRef]
- Dollfus H, Häfner R, Hofmann HM, et al. Chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease syndrome: ocular manifestations in a recently recognized chronic inflammatory disease of childhood. Arch Ophthalmol. 2000;118:1386–1392. doi:10.1001/archopht.118.10.1386 [CrossRef]