Top

Published in:

Open Access 01-12-2014 | Case Report

Neonatal treatment of CINCA syndrome

Authors: Yan Paccaud, Gerald Berthet, Annette Von Scheven-Gête, Bernard Vaudaux, Yvan Mivelaz, Michael Hofer, Matthias Roth-Kleiner

Published in: Pediatric Rheumatology | Issue 1/2014

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.

Case report

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.

Conclusion

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.

Available only for authorised users

Kuemmerle-Deschner JB: Cryopyrin-associated periodic syndrome. Z Rheumatol. 2012, 71: 199-208. 10.1007/s00393-011-0856-9.CrossRef

Neven B, Prieur AM, Quartier Dit Maire P: Cryopyrinopathies: update on pathogenesis and treatment. Nat Clin Pract Rheumatol. 2008, 4: 481-489. 10.1038/ncprheum0874.CrossRefPubMed

Kuemmerle-Deschner JB, Tyrrell PN, Koetter I, Wittkowski H, Bialkowski A, Tzaribachev N, Lohse P, Koitchev A, Deuter C, Foell D, Benseler SM: Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle-Wells syndrome. Arthritis Rheum. 2011, 63: 840-849. 10.1002/art.30149.CrossRefPubMed

Sibley CH, Plass N, Snow J, Wiggs EA, Brewer CC, King KA, Zalewski C, Kim HJ, Bishop R, Hill S, Paul SM, Kicker P, Phillips Z, Dolan JG, Widemann B, Jayaprakash N, Pucino F, Stone DL, Chapelle D, Snyder C, Butman JA, Wesley R, Goldbach-Mansky R: Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: a cohort study to determine three- and five-year outcomes. Arthritis Rheum. 2012, 64: 2375-2386. 10.1002/art.34409.PubMedCentralCrossRefPubMed

Neven B, Marvillet I, Terrada C, Ferster A, Boddaert N, Couloignier V, Pinto G, Pagnier A, Bodemer C, Bodaghi B, Tardieu M, Prieur AM, Quartier P: Long-term efficacy of the interleukin-1 receptor antagonist anakinra in ten patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome. Arthritis Rheum. 2010, 62: 258-267.CrossRefPubMed

Toplak N, Frenkel J, Ozen S, Lachmann HJ, Woo P, Kone-Paut I, De Benedetti F, Neven B, Hofer M, Dolezalova P, Kummerle-Deschner J, Touitou I, Hentgen V, Simon A, Girschick H, Rose C, Wouters C, Vesely R, Arostegui J, Stojanov S, Ozgodan H, Martini A, Ruperto N, Gattorno M, Paediatric Rheumatology International Trials Organisation, Eurotraps, Eurofever Projects: An international registry on autoinflammatory diseases: the Eurofever experience. Ann Rheum Dis. 2012, 71: 1177-1182. 10.1136/annrheumdis-2011-200549.CrossRefPubMed

Goldbach-Mansky R: Current status of understanding the pathogenesis and management of patients with NOMID/CINCA. Curr Rheumatol Rep. 2011, 13: 123-131. 10.1007/s11926-011-0165-y.PubMedCentralCrossRefPubMed

Hoffman HM, Throne ML, Amar NJ, Cartwright RC, Kivitz AJ, Soo Y, Weinstein SP: Long-term efficacy and safety profile of rilonacept in the treatment of cryopryin-associated periodic syndromes: results of a 72-week open-label extension study. Clin Ther. 2012, 34: 2091-2103. 10.1016/j.clinthera.2012.09.009.CrossRefPubMed

Kone Paut I, Lachmann HJ, Kuemmerle Deschner JB, Hachulla E, Leslie KS, Mouy R, Ferreira A, Lheritier K, Patel N, Preiss R, Hawkins PN, Canakinumab in, CAPS Study Group: Sustained remission of symptoms and improved health-related quality of life in patients with cryopyrin-associated periodic syndrome treated with canakinumab: results of a double-blind placebo-controlled randomized withdrawal study. Arthritis Res Ther. 2011, 13: R202-10.1186/ar3535.PubMedCentralCrossRefPubMed

10.

Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, Ohara O, Nishikomori R, Morimoto T, Kambe N, Goldbach-Mansky R, Aksentijevich I, de Saint BG, Neven B, van Gijn M, Frenkel J, Arostegui JI, Yague J, Merino R, Ibanez M, Pontillo A, Takada H, Imagawa T, Kawai T, Yasumi T, Nakahata T, Heike T: High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study. Arthritis Rheum. 2011, 63: 3625-3632. 10.1002/art.30512.PubMedCentralCrossRefPubMed

11.

Imagawa T, Nishikomori R, Takada H, Takeshita S, Patel N, Kim D, Lheritier K, Heike T, Hara T, Yokota S: Safety and efficacy of canakinumab in Japanese patients with phenotypes of cryopyrin-associated periodic syndrome as established in the first open-label, phase-3 pivotal study (24-week results). Clin Exp Rheumatol. 2013, 31: 302-309.PubMed

12.

Cuisset L, Jeru I, Dumont B, Fabre A, Cochet E, Le Bozec J, Delpech M, Amselem S, Touitou I, French C: Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France. Ann Rheum Dis. 2011, 70: 495-499. 10.1136/ard.2010.138420.CrossRefPubMed

13.

Saade GR, Moise KJ, Copel JA, Belfort MA, Carpenter RJ: Fetal platelet counts correlate with the severity of the anemia in red-cell alloimmunization. Obstet Gynecol. 1993, 82: 987-991.PubMed

14.

Prieur AM, Griscelli C, Lampert F, Truckenbrodt H, Guggenheim MA, Lovell DJ, Pelkonnen P, Chevrant-Breton J, Ansell BM: A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients. Scand J Rheumatol Suppl. 1987, 66: 57-68.CrossRefPubMed

15.

Almeida MQ, Tsang KM, Cheadle C, Watkins T, Grivel JC, Nesterova M, Goldbach-Mansky R, Stratakis CA: Protein kinase A regulates caspase-1 via Ets-1 in bone stromal cell-derived lesions: a link between cyclic AMP and pro-inflammatory pathways in osteoblast progenitors. Hum Mol Genet. 2011, 20: 165-175. 10.1093/hmg/ddq455.PubMedCentralCrossRefPubMed

16.

Moyssakis I, Tektonidou MG, Vasilliou VA, Samarkos M, Votteas V, Moutsopoulos HM: Libman-Sacks endocarditis in systemic lupus erythematosus: prevalence, associations, and evolution. Am J Med. 2007, 120: 636-642. 10.1016/j.amjmed.2007.01.024.CrossRefPubMed

17.

Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD: Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet. 2001, 29: 301-305. 10.1038/ng756.PubMedCentralCrossRefPubMed

18.

The registry of hereditary auto-inflammatory disorders mutations.http://fmf.igh.cnrs.fr/ISSAID/infevers/,

19.

Kagami S, Saeki H, Kuwano Y, Imakado S, Tamaki K: A probable case of Muckle- Wells syndrome. J Dermatol. 2006, 2: 118-121.CrossRef

20.

Saito M, Nishikomori R, Kambe N, Fujisawa A, Tanizaki H, Takeichi K, Imagawa T, Iehara T, Takada H, Matsubayashi T, Tanaka H, Kawashima H, Kawakami K, Kagami S, Okafuji I, Yoshioka T, Adachi S, Heike T, Miyachi Y, Nakahata T: Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients. Blood. 2008, 111: 2132-2141. 10.1182/blood-2007-06-094201.CrossRefPubMed

21.

Omoyinmi E, Gomes SM, Standing A, Rowczenio DM, Eleftheriou D, Klein N, Arostegui JI, Lachmann HJ, Hawkins PN, Brogan PA: Whole-exome sequencing revealing somatic NLRP3 mosaicism in a patient with chronic infantile neurologic, cutaneous, articular syndrome. Arthritis Rheum. 2014, 66: 197-202.CrossRef

22.

Caroli F, Pontillo A, D’Osualdo A, Travan L, Ceccherini I, Crovella S, Alessio M, Stabile A, Gattorno M, Tommasini A, Martini A, Lepore L: Clinical and genetic characterization of Italian patients affected by CINCA syndrome. Rheumatology. 2007, 46: 473-478. 10.1093/rheumatology/kel269.CrossRefPubMed

23.

Kone-Paut I, Piram M: Targeting interleukin-1beta in CAPS (cryopyrin-associated periodic) syndromes: what did we learn?. Autoimmun Rev. 2012, 12: 77-80. 10.1016/j.autrev.2012.07.026.CrossRefPubMed

Title: Neonatal treatment of CINCA syndrome
Authors: Yan Paccaud
Gerald Berthet
Annette Von Scheven-Gête
Bernard Vaudaux
Yvan Mivelaz
Michael Hofer
Matthias Roth-Kleiner
Publication date: 01-12-2014
Publisher: BioMed Central
Published in: Pediatric Rheumatology / Issue 1/2014
Electronic ISSN: 1546-0096
DOI: https://doi.org/10.1186/1546-0096-12-52

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Neonatal treatment of CINCA syndrome

Abstract

Case report

Conclusion

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Case report

Conclusion

Please log in to get access to this content

Other articles of this Issue 1/2014

Acceptability and practicality of a Spanish translation of paediatric Gait Arms Legs and Spine (pGALS) in Peruvian children

MEFV gene mutations and cardiac phenotype in children with familial Mediterranean fever: a cohort study

Childhood Cogan syndrome with aortitis and anti-neutrophil cytoplasmic antibody-associated glomerulonephritis

Mutations in CECR1 associated with a neutrophil signature in peripheral blood

The role of sleep in Juvenile idiopathic arthritis patients and their caregivers

Juvenile dermatomyositis in South African children is characterised by frequent dystropic calcification: a cross sectional study