CINCA Syndrome: about a Series of 5 Cases

Abstract

CINCA is a chronic auto-inflammatory syndrome of childhood characterized by a combination of skin, joint and neurological involvement, including sensory organs, due to a mutation in the NLRP3 gene responsible for uncontrolled activation of innate immunity. Our objective is to establish the epidemiological, clinical, genetic, therapeutic and evolutionary characteristics of the CINCA syndrome. Materials & Methods: Retrospective analysis spread over 16 years (2000 to 2016) of 05 cases of CINCA syndrome, followed up at the pediatric rheumatology department and consultation at the Rabat children's hospital. Results: There were 03 boys and 02 girls, the mean age at diagnosis was 2 years and 02 months. 01 patient was from consanguineous parents (1st degree). Clinical signs were recurrent fever in all patients, osteoarticular involvement in 80% with patellar hypertrophy in 01 patient, skin involvement in 80%, neurological involvement in 60%, no sensory involvement, dysmorphic facies in 60% of cases, and staturo-ponderal retardation in 60%. None of the patients had renal amyloidosis. Biological tests revealed an inflammatory syndrome in all our patients, and joint radiographs showed a modelling disorder of the lower femoral metaphyses associated with osteoporosis in one patient, and epiphyseal remodelling with irregular ossification of the patellae in another. A genetic study was carried out in only 01 cases, revealing a mutation in the CIAS 1 gene. Biotherapy was not used in view of the clinical and biological improvement with NSAIDs and/or corticosteroids. CINCA syndrome is rare but can be serious and often goes unrecognized. Diagnostic and therapeutic management must be rapid in order to avoid serious complications, particularly ocular and renal, and to improve vital and functional prognosis.