History: Not moving left leg, flexion contracture at the knee. Other past medical history includes hyperbilirubinemia at birth, autoimmune hepatitis, sensorineural hearing loss and global developmental delay.
Neonatal Onset Multisystem Inflammatory Disease (NOMID) was first described by Prier and Griscelli in 1987 and has also been referred to as chronic infantile neurologic, cutaneous and articular syndrome (CINCA). It is a rare genetic disorder on the spectrum of cryopyrin associated periodic syndromes (CAPS). NOMID is associated with mutations in the NLRP3 gene in 60% of patients, which was confirmed in our case. According to the NIH, approximately 100 affected patients have been reported worldwide. Other CAPS entities include familial cold autoinflammatory syndrome (FCAS) and Muckle-Wells syndrome (MWS), of which NOMID is the most severe.
The clinical manifestations of NOMID include a maculopapular skin rash which is hive-like in 100% of patients. Seventy-Five percent of patients have the rash at birth. Over a time course of months the disease progresses to include intermittent fevers, generalized lymphadenopathy, anemia, leukocytosis, hepatosplenomegaly, painful arthropathy, and failure to thrive. While the articular findings are often the most striking, as in our case, other manifestations include chronic aseptic meningitis, macrocephaly, developmental delay, hearing loss, and ocular pathology including uveitis and conjunctivitis