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Neonatal treatment of CINCA syndrome
Yan Paccaud1, Gerald Berthet2, Annette Von Scheven-Gête3
1Clinic of Neonatology, Department of Pediatrics, University Hospital and University of Lausanne, Lausanne, Switzerland.
Insights
Early anti-interleukin-1 treatment for Chronic Infantile Neurological Cutaneous Articular (CINCA) syndrome in neonates is safe and effective. This intervention rapidly controls inflammation and prevents long-term damage in infants with severe CINCA syndrome.
Area of Science:
- Neonatology
- Immunology
- Genetics
Background:
- Chronic Infantile Neurological Cutaneous Articular (CINCA) syndrome, also known as Neonatal Onset Multisystem Inflammatory Disease (NOMID), is a severe autoinflammatory disorder.
- It presents in infancy, primarily affecting the central nervous system, joints, and skin, potentially causing irreversible damage.
- Limited data exists on therapeutic interventions in neonates with CINCA syndrome.
Observation:
- This report details two preterm infants with severe CINCA syndrome who received early neonatal treatment with anakinra, an anti-interleukin-1 agent.
- The treatment was initiated due to severe clinical manifestations.
- Particular neonatal signs included polyhydramnios and endocardial overgrowth.
Findings:
- Both infants showed a rapid and sustained reduction in clinical symptoms and systemic inflammation.
- Anakinra treatment was well-tolerated in both cases.
- Genetic confirmation revealed NLRP3/CIAS1 gene mutations, characteristic of cryopyrin-associated periodic syndromes.
Implications:
- Early initiation of interleukin-1 targeted therapy, such as anakinra, is strongly recommended for neonates with severe CINCA syndrome.
- This treatment approach is well-tolerated and can effectively control inflammation.
- Prompt intervention in the neonatal period may prevent lifelong disability associated with CINCA syndrome.
Unlabelled:
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.
