Anakinra in mutation-negative CINCA syndrome

Abstract

Chronic infantile neurological cutaneous articular (CINCA) syndrome is a rare congenital inflammatory disorder with variable clinical manifestations but devastating in a great majority of the cases. The syndrome is characterized by a generalized, wandering palpable rash eruption of neonatal onset, chronic arthropathy characterized by abnormal proliferation of cartilage and an abnormal ossification, and a progressive neurological impairment as the result of a chronic meningitis caused by polymorphonuclear cell infiltration [1, 2]. Nevertheless, many other manifestations are described, including fever, generalized lymphadenopathy, hepatosplenomegaly, developmental retardation, hydrocephalus, cerebral atrophy, ocular involvement in the form of uveitis and papilitis, and perceptive deafness. Recently, the syndrome has been associated with mutations in the CIAS1 gene [3]. These mutations will imply a higher level of interleukin-1 (IL-1) and a good response with the recombinant human IL-1 receptor antagonist anakinra [4, 5]. Nevertheless, CINCA syndrome has not always been associated with CIAS1 mutations, but in these cases, patients can also respond well to the treatment with anakinra [6], as in the case of the patient we present.