Abstract
BackgroundTo assess the neurological involvement and outcome, including school and professional performances, of adults and children with cryopyrin-associated periodic syndrome (CAPS).MethodsIn this observational study, patients with genetically proven CAPS and followed in the national referral centre for autoinflammatory diseases at Bicêtre hospital were assessed. Neurological manifestations, CSF data and MRI results at diagnosis and during follow-up were analyzed.ResultsTwenty-four patients (15 adults and 9 children at diagnosis) with CAPS were included. The median age at disease onset was 0 year (birth) [range 0–14], the median age at diagnosis was 20 years [range 0–53] and the mean duration of follow-up was 10.4 ± 2 years. Neurological involvement at diagnosis, mostly headaches and hearing loss, was noted in 17 patients (71%). Two patients of the same family had abnormal brain MRI. A439V mutation is frequently associated with a non-neurological phenotype while R260W mutation tends to be associated with neurological involvement. Eleven adult patients (61%) and 3 children (50%) underwent school difficulties.ConclusionNeurological involvement is frequent in patients with CAPS and the majority of patients presented difficulties in school performances with consequences in the professional outcome during adulthood. Further studies in larger cohorts of children with CAPS focusing in intellectual efficiency and school performances are necessary.
Highlights
To assess the neurological involvement and outcome, including school and professional performances, of adults and children with cryopyrin-associated periodic syndrome (CAPS)
NRLP3 encodes cryopyrin, which controls the activation of caspase-1 which in turn catalyses the cleavage of prointerleukin-1β (IL-1β) into the potent proinflammatory cytokine IL-1β [3]
We provided a detailed description of the neurological involvement, which is frequent in adults and children with CAPS
Summary
To assess the neurological involvement and outcome, including school and professional performances, of adults and children with cryopyrin-associated periodic syndrome (CAPS). Cryopyrin-associated periodic syndrome (CAPS) is a rare hereditary periodic fever syndrome with an estimated prevalence in France equal to 1/360 000 [1]. CAPS are caused by dominantly inherited, or de novo, gain of function mutations within the NLRP3 gene [1, 2]. NRLP3 encodes cryopyrin, which controls the activation of caspase-1 which in turn catalyses the cleavage of prointerleukin-1β (IL-1β) into the potent proinflammatory cytokine IL-1β [3]. The syndrome encompasses a continuum of three diseases, from the mildest familial cold autoinflammatory syndrome (FCAS) to the most severe Neonatal Onset Multisystem Inflammatory Disease (NOMID) known as Chronic Infantile Neurologic Cutaneous Articular (CINCA) syndrome. The clinical manifestations of CAPS such as urticaria-like skin rash, eyes redness, myalgia and sensory deafness, are not specific, if considered separately, and that often leads to a diagnostic delay which compromises the quality of life and exposes the patients to neurosensory complications
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