Hadassah Medical Center

Clinical and Imaging Characteristics of Posterior Scleritis in Children.

Posterior scleritis (PS) is a rare phenotype of scleritis. Comprehensive epidemiological studies on PS in children are limited. We aimed to report on its clinical and imaging features in one of the largest pediatric series to date. Retrospective review of medical files. Included were 12 children (7 girls, mean±SD age at diagnosis 13.75 ± 3.3 years,18 eyes, mean follow-up ±SD of 46.7 ± 45.9 months). All patients presented with eye pain followed by headache. Papillitis was the most common presenting sign (16 eyes, 88.9%). Seven patients (58%) showed laboratory markers of systemic inflammation. One patient had periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA). In 2 other patients, Behҫet disease and inflammatory bowel disease were diagnosed subsequently. Initial echography showed increased posterior scleral thickness (mean±SD 2.9 ± 0.68 mm) with a significant reduction four ± 2 months later (mean±SD 1.85 ± 0.62 mm). Retinal nerve fiber layer (RNFL) was thickened in all examined eyes (mean±SD 136.2 ± 28.4 µm) at presentation and it significantly decreased with treatment (109.8 ± 8.2 µm two months later). In 5 patients (42%), diagnosing PS was prompted by Brain imaging. PS was part of orbital inflammatory syndrome in 4 patients (33.3%). All patients were treated with systemic steroids and 91% required steroid-sparing agent. Adalimumab was added in 2 patients. A chronic course was observed in 63.6%. Remission was achieved in 4 patients. Mean±SD presenting LogMAR VA was 0.23 ± 0.3 with marked improvement to 0.04 ± 0.07 one month later. Searching for an associated autoinflammatory/autoimmune disease is an important step in patients' triaging. B-scan ultrasound remains the gold standard test. OCT proved to be of practical importance in delineating the magnitude of RNFL thickness and could serve as a potential imaging biomarker of disease activity.

How to classify PFAPA? No hard evidence for associated CAPS or CARD variants and not any for links with Behçet's syndrome.

Classification criteria for autoinflammatory recurrent fevers.

Different diagnostic and classification criteria are available for hereditary recurrent fevers (HRF)-familial Mediterranean fever (FMF), tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), mevalonate kinase deficiency (MKD) and cryopyrin-associated periodic syndromes (CAPS)-and for the non-hereditary, periodic fever, aphthosis, pharyngitis and adenitis (PFAPA). We aimed to develop and validate new evidence-based classification criteria for HRF/PFAPA. Step 1: selection of clinical, laboratory and genetic candidate variables; step 2: classification of 360 random patients from the Eurofever Registry by a panel of 25 clinicians and 8 geneticists blinded to patients' diagnosis (consensus ≥80%); step 3: statistical analysis for the selection of the best candidate classification criteria; step 4: nominal group technique consensus conference with 33 panellists for the discussion and selection of the final classification criteria; step 5: cross-sectional validation of the novel criteria. The panellists achieved consensus to classify 281 of 360 (78%) patients (32 CAPS, 36 FMF, 56 MKD, 37 PFAPA, 39 TRAPS, 81 undefined recurrent fever). Consensus was reached for two sets of criteria for each HRF, one including genetic and clinical variables, the other with clinical variables only, plus new criteria for PFAPA. The four HRF criteria demonstrated sensitivity of 0.94-1 and specificity of 0.95-1; for PFAPA, criteria sensitivity and specificity were 0.97 and 0.93, respectively. Validation of these criteria in an independent data set of 1018 patients shows a high accuracy (from 0.81 to 0.98). Eurofever proposes a novel set of validated classification criteria for HRF and PFAPA with high sensitivity and specificity.