Synonym: NOMID (neonatal onset multisystemic inflammatory disease)
Inheritance: typically autosomal dominant, rarely de novo (sporadic)
Pathogenesis: mutation in NLRP3 (previously termed CIAS1) = nucleotide-binding oligomerization domain, leucine-rich repeat family, pyrin domain containing 3
Product: NALP3 (aka NACHT or cryopyrin)
Onset: soon after birth or during infancy
Clinical features:
(1) fever (variable)
(2) maculopapular skin rash
(3) arthritis or arthralgias
(4) chronic aseptic meningitis with chronic headaches and raised intracranial pressure
(5) anterior uveitis, posterior uveitis and/or optic atrophy
(6) hearing loss
(7) amyloidosis(variable)
Laboratory findings:
(1) leukocytosis
(2) increase in acute phase reactants
(3) skin biopsy shows a perivascular infiltrate with neutrophils
Complications:
(1) joint deformities with pain
(2) bowing and shortening of long bones (radiographs show overgrowth of the metaphysis and irregular calcifications at the epiphysis)
(3) macrocrania with frontal bossing
(4) cognitive impairment (variable)
(5) spastic diplegia (variable)
(6) seizure disorder (variable)
(7) blindness (variable)
(8) deafness (variable)
(9) renal impairment (variable)
(10) premature death (variable)
