title: Hydrocephalus in CINCA syndrome treated with anakinra.
abstract: BACKGROUND
  Chronic infantile neurologic, cutaneous, articular (CINCA) syndrome is a rare congenital autoinflammatory disease characterized by neonatal-onset chronic meningitis, hydrocephalus, sensorineural hearing loss, persistent urticarial rash, deforming arthritis, and recurrent fever. This clinical entity is believed to result from dysregulation of cytokine production. No recommended treatment protocol exists so far for CINCA syndrome.
  
  
  METHODS
  We report a 7-year-old child affected with CINCA syndrome in whom no therapy had resulted effective. Anakinra, an interleukin-1-receptor antagonist, was administered in a 1-year period with complete inflammatory symptom remission and dramatically ameliorated laboratory tests. This optimal response has been supported by the demonstration of a stabilized hydrocephalus upon magnetic resonance imaging and by an overall improvement of the neurodevelopmental issues.
  
  
  CONCLUSIONS
  This paper emphasizes and discusses the medical approach with anakinra in CINCA syndrome presenting with hydrocephalus in which a consistent control of the neurological picture can be obtained.
authors.affiliation: Centre of Periodic Fevers, Dipartimento di Scienze Pediatriche Medico-Chirurgiche e Neuroscienze dello Sviluppo, Catholic University Medical School, Policlinico A. Gemelli, Largo A. Gemelli, 8, 00168 Rome, Italy. drigante@gmail.com
authors.forename: D
authors.initials: D
authors.lastname: Rigante
authors.forename: V
authors.initials: V
authors.lastname: Ansuini
authors.forename: M
authors.initials: M
authors.lastname: Caldarelli
authors.forename: B
authors.initials: B
authors.lastname: Bertoni
authors.forename: I
authors.initials: I
authors.lastname: La Torraca
authors.forename: A
authors.initials: A
authors.lastname: Stabile
mesh_terms: D001168:Arthritis / Q000150:complications* / Q000276:immunology; D002648:Child; D002675:Child, Preschool; D002908:Chronic Disease; D005334:Fever / Q000150:complications / Q000276:immunology; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000276:immunology; D006801:Humans; D006849:Hydrocephalus / Q000150:complications / Q000188:drug therapy* / Q000276:immunology; D007154:Immune System Diseases / Q000150:complications / Q000188:drug therapy / Q000276:immunology; D007155:Immunologic Factors / Q000627:therapeutic use*; D007223:Infant; D007231:Infant, Newborn; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use*; D008297:Male; D008581:Meningitis / Q000150:complications / Q000276:immunology; D013577:Syndrome; D016896:Treatment Outcome; D014581:Urticaria / Q000150:complications* / Q000276:immunology
chemical_list: D007155:Immunologic Factors; D053590:Interleukin 1 Receptor Antagonist Protein