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neonatal-onset multisystem inflammatory disease (NOMID); chronic infantile neurologic cutaneous articular syndrome

Epidemiology: - rare - onset during neonatal period Pathology: - systemic amyloidosis (25%) Genetics: 1) autosomal dominant 2) mutation in CIAS1 gene 66% Clinical manifestations: 1) progressive disorder 2) urticarial rash develops in the first 6 weeks of life 3) other disorders follow a) epiphyseal overgrowth, predominantly of the knees b) joint contractures c) central nervous system abnormalities - aseptic meningitis (chronic) - increased intracranial pressure - cerebral atrophy - seizures - optic-nerve atrophy or papilledema - mental retardation - sensorineural hearing loss d) recurrent fever & inflammation e) hepatosplenomegaly f) short stature 4) pleuritis is rare Laboratory: 1) leukocytosis 2) elevated ESR & CRP 4) increased serum amyloid A Complications: - 20% fatality before adulthood Management: - anakinra 1-2 mg/kg/day - interleukin 1-beta inhibitor [4] - rilonacept - canakinumab (Ilaris)

Related

NACHT, LRR & PYD domains-containing protein 3; angiotensin/vasopressin receptor AII/AVP-like; caterpiller protein 1.1; CLR1.1; cold autoinflammatory syndrome 1 protein; Cryopyrin; PYRIN-containing APAF1-like protein 1 (NLRP3, C1orf7, CIAS1, NALP3 ,PYPAF1)

General

cryopyrin associated periodic syndrome (CAPS) neonatal disorder or disease

Database Correlations

OMIM 607115

References

  1. Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI, Kim HJ, Brewer C, Zalewski C, Wiggs E, Hill S, Turner ML, Karp BI, Aksentijevich I, Pucino F, Penzak SR, Haverkamp MH, Stein L, Adams BS, Moore TL, Fuhlbrigge RC, Shaham B, Jarvis JN, O'Neil K, Vehe RK, Beitz LO, Gardner G, Hannan WP, Warren RW, Horn W, Cole JL, Paul SM, Hawkins PN, Pham TH, Snyder C, Wesley RA, Hoffmann SC, Holland SM, Butman JA, Kastner DL. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med. 2006 Aug 10;355(6):581-92. PMID: 16899778
  2. UniProt :accession Q96P20
  3. OMIM :accession 607115
  4. Medical Knowledge Self Assessment Program (MKSAP) 16. 18. American College of Physicians, Philadelphia 2012, 2018