title: Neonatal treatment of CINCA syndrome.
abstract: Chronic Infantile Neurological Cutaneous Articular (CINCA) syndrome, also called Neonatal Onset Multisystem Inflammatory Disease (NOMID) is a chronic disease with early onset affecting mainly the central nervous system, bones and joints and may lead to permanent damage. We report two preterm infants with severe CINCA syndrome treated by anti-interleukin-1 in the neonatal period, although, so far, no experience with this treatment in infants younger than three months of age has been reported. A review of the literature was performed with focus on treatment and neonatal features of CINCA syndrome.
  
  
  METHODS
  Two cases suspected to have CINCA syndrome were put on treatment with anakinra in the early neonatal period due to severe clinical presentation. We observed a rapid and persistent decline of clinical signs and systemic inflammation and good drug tolerance. Diagnosis was confirmed in both cases by mutations in the NLRP3/CIAS1-gene coding for cryopyrin. As particular neonatal clinical signs polyhydramnios and endocardial overgrowth are to be mentioned.
  
  
  CONCLUSIONS
  We strongly suggest that specific treatment targeting interleukin-1 activity should be started early. Being well tolerated, it can be introduced already in neonates presenting clinical signs of severe CINCA syndrome in order to rapidly control inflammation and to prevent life-long disability.
authors.affiliation: Clinic of Neonatology, Department of Pediatrics, University Hospital and University of Lausanne, Lausanne, Switzerland.
authors.forename: Yan
authors.initials: Y
authors.lastname: Paccaud
authors.affiliation: Clinic of Pediatrics, Cantonal Hospital of Aarau, Aarau, Switzerland.
authors.forename: Gerald
authors.initials: G
authors.lastname: Berthet
authors.affiliation: Unit of Pediatric Rheumatology of Western Switzerland, Departments of Pediatrics, University Hospital and University of Lausanne, and University Hospital of Geneva, Geneva, Switzerland.
authors.forename: Annette
authors.initials: A
authors.lastname: Von Scheven-Gête
authors.affiliation: Pediatric Infectiology Unit, Department of Pediatrics, University Hospital and University of Lausanne, Lausanne, Switzerland.
authors.forename: Bernard
authors.initials: B
authors.lastname: Vaudaux
authors.affiliation: Pediatric Cardiology Unit, Department of Pediatrics, University Hospital and University of Lausanne, Lausanne, Switzerland.
authors.forename: Yvan
authors.initials: Y
authors.lastname: Mivelaz
authors.affiliation: Unit of Pediatric Rheumatology of Western Switzerland, Departments of Pediatrics, University Hospital and University of Lausanne, and University Hospital of Geneva, Geneva, Switzerland.
authors.forename: Michael
authors.initials: M
authors.lastname: Hofer
authors.affiliation: Clinic of Neonatology, Department of Pediatrics, University Hospital and University of Lausanne, Lausanne, Switzerland ; Clinic of Neonatology, Centre Hospitalier Universitaire Vaudois, CHUV, Av Pierre Decker 2, CH-1011 Lausanne, Switzerland.
authors.forename: Matthias
authors.initials: M
authors.lastname: Roth-Kleiner
mesh_terms: D018501:Antirheumatic Agents / Q000627:therapeutic use*; D002352:Carrier Proteins / Q000235:genetics; D056587:Cryopyrin-Associated Periodic Syndromes / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use*; D007375:Interleukin-1 / Q000037:antagonists & inhibitors*; D008297:Male; D009154:Mutation / Q000235:genetics; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D013997:Time Factors; D016896:Treatment Outcome
chemical_list: D018501:Antirheumatic Agents; D002352:Carrier Proteins; D053590:Interleukin 1 Receptor Antagonist Protein; D007375:Interleukin-1; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human
keywords: Anakinra; CINCA; IL-1 receptor; IL-1β; NOMID; Neonatal treatment