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Case Reports
. 2014 Dec 15:12:52.
doi: 10.1186/1546-0096-12-52. eCollection 2014.

Neonatal treatment of CINCA syndrome

Yan Paccaud  1 , Gerald Berthet  2 , Annette Von Scheven-Gête  3 , Bernard Vaudaux  4 , Yvan Mivelaz  5 , Michael Hofer  3 , Matthias Roth-Kleiner  6
Affiliations
Case Reports

Neonatal treatment of CINCA syndrome

Yan Paccaud et al. Pediatr Rheumatol Online J. .

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.

Keywords: Anakinra; CINCA; IL-1 receptor; IL-1β; NOMID; Neonatal treatment.

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Figures

Figure 1
Figure 1
Cardiac vegetation in neonatal CINCA syndrome. Echocardiographic long axis parasternal view of the right ventricular outflow tract. The pulmonary valve is closed and a thin posterior leaflet is clearly visible (white arrow). The anterior leaflet is thicker and a hyperechogenic lesion (white arrow head) is attached to its ventricular side. (LV: left ventricle; PA: pulmonary artery trunk; RV: right ventricle).
Figure 2
Figure 2
Cutaneous rash in neonatal CINCA syndrome.
Figure 3
Figure 3
Arthritis in neonatal CINCA syndrome.
See this image and copyright information in PMC

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