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Results 3 girls aged from 8 years to 15 years 8 months have been included. PB19 infection was present at diagnosis in all patients. Maternal history of autoimmune diseases was noted in a consanguineous family. Clinical manifestations at diagnosis were fever(3), arthritis/arthralgia (3), skin rash (1), grade IV glomerulonephritis (1), interstitial pneumonia (1), cerebral vasculitis (1), pericarditis/pleurisy (1), adenopathy (2), hepatomegaly/splenomegaly (1). Aregenerative anaemia requiring packed red blood cell transfusion was present in all patients. AAN (3), anti –DNA (3), anti-SSa (1), anti-SSb (1), anti-phospholipid (1), anti-platelet (2), rheumatoid factor (2), pANCA (1), anti-actin (1) antibodies were found. PB19 PCR was positive in blood (3), bone marrow (2) and kidney (1). Corticosteroids have been initiated for the 3 patients, in association with one or more immunosuppressive therapies. A sustained remission has been observed in 2 patients after a follow-up of 4 years and 1 year 8 months off-therapy respectively. A severe course with joint damages, recurrent pericarditis and gradeIV glomerulonephritis, associated with persistent infection by PB19, has been observed in the third case (family autoimmunity history).

Longer-term effects of prolonged selective interleukin-1β blockade with canakinumab were evaluated in the largest cohort of cryopyrin-associated periodic syndrome (CAPS) patients studied to date.Adult and paediatric CAPS patients (n=166, including canakinumab-naive and pretreated patients from previous studies) received canakinumab subcutaneously 150 mg or 2 mg/kg (≤40 kg) every 8 weeks for up to 2 years. Response and relapse was assessed using scores for disease activity, skin rash and C-reactive protein (CRP) and/or serum amyloid A (SAA) levels.Complete response was achieved in 85 of 109 canakinumab-naive patients (78%; 79/85 patients within 8 days, and five patients between days 10 and 21). Of 141 patients with an available relapse assessment, 90% did not relapse, their CRP/SAA levels normalised (10 mg/l) by day 8, and remained in the normal range thereafter. Median treatment duration was 414 days (29-687 days). Upward adjustments of dose or frequency were needed in 24.1% patients; mostly children and those with severe CAPS. Predominant adverse events (AE) were infections (65.7%) of mostly mild-to-moderate severity. Serious AE reported in 18 patients (10.8%) were mainly infections and were responsive to standard treatment. The majority of patients (92%) reported having no injection-site reactions and only 8% patients reported mild-to-moderate reactions. Patients receiving vaccination (15%) showed normal immune response.Subcutaneous canakinumab 150 mg every 8 weeks was well tolerated and provided substantial disease control in children and adults across all CAPS phenotypes. Higher canakinumab doses in younger patients and more severe CAPS disease were efficacious in achieving complete responses without evidence of increased AE.NCT00685373 (clinicaltrials.gov).

Objective.To evaluate the safety and efficacy of rituximab (RTX) in juvenile dermatomyositis (JDM) in off-trial patients.Methods.We conducted a multicenter prospective study of patients with JDM included in the French Autoimmunity and Rituximab (AIR) registry.Results.Nine patients with severe JDM were studied. The main indication for RTX treatment was severe and/or refractory muscle involvement (7 patients), severe calcinosis (1 patient), or severe chronic abdominal pain associated with abdominal lipomatosis (1 patient). RTX was associated with corticosteroids, immunosuppressive drugs, and plasma exchange therapy in 9/9, 5/9, and 2/9 patients, respectively. Mild infections of the calcinosis sites occurred in 2 patients and an infusion-related event in 1. Complete clinical response was achieved in 3/6 patients treated with RTX for muscle involvement. In these responders steroid therapy was stopped or tapered to < 15% of the baseline dosage, with no relapse, with a followup ranging from 1.3 to 3 years. Calcinosis did not improve in the 6 affected patients.Conclusion.This small series suggests that rituximab may be effective for treating muscle and skin involvement in a small subset of children with severe JDM, and that its safety profile was satisfactory. Further studies are needed to identify predictive factors of response to RTX in patients with severe JDM.

Objectives To identify juvenile idiopathic arthritis (JIA) patients who developed IBD during treatment with anti-TNF-alpha agents and better characterize the IBD clinical and pathological presentation. Methods A retrospective French multicentre study included patients with a diagnosis of JIA according to the ILAR criteria who developed IBD while under anti-TNF-alpha therapy before 18 years of age. Intestinal biopsies were collected and reviewed by the same pathologist. Results Eight patients were included. They had been treated with etanercept from 11 to 78 months before IBD onset. Gastro-intestinal symptoms included abdominal pain (six patients), diarrhoea (four patients), anorexia (four patients), anal abscess (three patients) and oral ulcers (one patient). Five patients presented with Crohn's disease (CD) and three with indeterminate IBD, of whom four had severe pancolitis. Clinical remission of IBD was obtained in all patients after discontinuation of etanercept and initiation of IBD-specific therapy, including infliximab in six patients. Conclusion IBD must be suspected in JIA patients treated with etanercept who develop intestinal symptoms, including anal abscess. This series raises the possibility of a relationship between etanercept therapy and the occurrence of IBD in a subset of patients with JIA.

The objective of this study was to report the use of Mycophenolate Mofetil (MMF) in Juvenile Dermatomyositis (JDM). A retrospective chart review of children diagnosed with JDM having received MMF was performed. Response was evaluated 3 months after the onset of MMF by comparing muscle strength and steroid dosage before and after treatment. A good response was defined by global improvement concerning weakness and fatigability as evaluated subjectively by the physician along with a gain of at least 4 points on each of 2 muscle testings (Manual Muscle Testing, MMT and Childhood Myositis Assessment Score, CMAS) and/or a decrease of >15% of the corticosteroid dosage. Eight patients were identified. Except for one, all had received MMF secondary to an initial therapy of conventional immunosuppressants. Six patients showed good response by our predefined criteria. Changes of muscle testing scores ranged between +0 to +21 points (mean = +10.6) for the MMT and between +3 and +11 (mean = +7) for the CMAS. Corticosteroid tapering varied from 0 to 50%, with a mean of 18%. In most cases, follow-up was available for many months (up to 26); overall, we observed only one complication: a transient neutropenia in a patient concurrently receiving another immunosuppressant. This small series is the first published report on the use of MMF in JDM and suggests it is safe. Prospective larger studies are required to further elucidate the use of MMF in JDM.

Congenital dyserythropoietic anemias (CDAs) are rare hereditary disorders characterized by ineffective erythropoiesis and striking abnormalities of erythroblast morphology. The mutated genes are known for the most frequent types, CDA I and II, but data about their frequency do not exist. The objective of this retrospective study was to estimate the frequency of CDA I and II, based on all cases reported in the last 42 yr in publications and identified registries or surveys. Reports were collected of 124 and 377 confirmed cases of CDA I and CDA II cases, respectively. The cumulated incidence of both types combined varied widely between European regions, with minimal values of 0.08 cases ⁄ million in Scandinavia and 2.60 cases ⁄ million in Italy. CDA II is more frequent than CDA I, with an overall ratio of approximately 3.2, but the ratio also varied between different regions. The most likely explanations for the differences are both differences in the availability of advanced diagnostic procedures and different levels of the awareness for the diagnosis of the CDAs. The estimations reported here are most probably below the true incidence rates, because of failure to make the correct diagnosis and to underreporting. Limited data do not suggest differing levels of risk in identified ethnic groups.

Autoimmune lymphoproliferative syndrome (ALPS) is characterized by splenomegaly, lymphadenopathy, hypergammaglobulinemia, accumulation of double-negative TCRαβ+ CD4−CD8− T cells (DNT cells), and autoimmunity. Previously, DNT cell detection and a functional defect of T cells in a FAS-induced apoptosis test in vitro had been used for ALPS diagnosis. However, a functional defect can also be detected in mutation-positive relatives (MPRs) who remain free of any ALPS-related disease. In contrast, lymphocytes from patients carrying a somatic mutation of FAS exhibit normal sensitivity to FAS-induced apoptosis in vitro. We assessed the soluble FAS-L concentration in the plasma of ALPS patients carrying FAS mutations. Overall, we showed that determination of the FAS-L represents, together with the IL-10 concentration and the DNT cell percentage, a reliable tool for the diagnosis of ALPS.

This retrospective study assessed the long-term effect of transfusional exchange therapy on MRA/MRI abnormalities in 24 homozygous sickle-cell anemia (HbSS) children presenting with abnormal brain MRA. The median time elapsed from baseline to last available MRA was 29 months. Follow-up MRAs showed improvement, stabilization or worsening of cerebrovascular lesions in 11, 6 and 7 patients respectively. Complete normalization of MRA was observed in 6 patients within a mean time of 1.4 years, but stenosis recurred at the same location in the 4 patients in whom transfusion therapy was discontinued. Baseline severe stenosis/occlusion of large cerebral arteries and occurrence of moyamoya syndrome were significantly associated with an absence of improvement of the cerebral vasculopathy. These data emphasize the heterogeneity of the course of cerebrovasculopathy in SS children receiving chronic transfusion. Further studies are needed to determine whether different therapeutic approaches have to be considered according to these different evolutive patterns in SS children.

Results Nine children aged from 2.8 to 14.9 years presented with a Crohn's disease associated with arthritis. Rheumatic disease occurred 25 to 41 months before the diagnosis of IBD (3 children), 8 to 62 months after the diagnosis of IBD (4 children) or at the same time of IBD (2 children). In the first three children, polyarticular form of juvenile idiopathic arthritis and Still's disease were initially diagnosed. IBD was diagnosed 2 to 7 months after the initiation of etanercept (2 children) and anakinra (1 child). Arthritis developed in children who received corticosteroids, infliximab, methotrexate and/or azathioprine because of IBD. Patients presented with peripheral arthritis, involving knees (7 children), ankles (5 children), and rarely hips, fingers, elbows and shoulders. 12/18 relapse of arthritis occurred at the same time as relapses of IBD. Abdominal manifestations included diarrhea, anal abscess, abdominal pain, vomiting, and loss of weight. Mean C reactive protein value and erythrocyte sedimentation rate were102 mg/L and 58 mm at onset of the disease respectively. Discussion IBD may be diagnosed several years after the occurrence of arthritis and must be searched for in children presenting with arthritis and abdominal involvement and/or weight loss. IBD may develop in children who receive etanercept while infliximab does not prevent the occurrence of inflammatory arthritis. from 15th Paediatric Rheumatology European Society (PreS) Congress London, UK. 14–17 September 2008

Results We identified 169 children treated for refractory AID: autoimmune cytopenia (s) (104 patients), systemic lupus erythematosus (SLE) (52 patients), miscellaneous (13 patients). The mean follow-up period was 6 to 36 months. Patients received 2 to 4 rituximab infusions (350–750 mg/m2) associated with immunosuppressive drugs in 49/ 52 SLE patients. Replacement intravenous immunoglobulins therapy was given to 68/169 patients. Moderate side effects were observed in 50/169 patients: infusion-related reactions, infections, transient neutropenia > 0.5 × 109/L and serum sickness disease. Severe side effects were observed after rituximab infusion in 11/169 (6.6%) patients: severe infusion related hypotention (4 patients), neutropenia < 0.2 × 109/L (3 patients), (2 SLE patients), cerebral vasculitis (1 SLE patient). Two SLE patients who have received cyclophosphamide died from cerebral histoplasmosis and Staphyloccoccus aureus endocarditis, and one boy who underwent autologous bone marrow transplantation for severe thrombocytopenic purpura developed severe enteroviral meningoencephalitis ; Ig G level was low at time of infection in 3/4 patients and not available in the fifth. Conclusion Severe adverse events were recorded in 6.6% of the rituximab-treated children. Patients who have received previous, concurrent and/or subsequent immunosuppressive drugs may experience severe infections, and must be closely monitored. A cohort study of children treated for auto-immune diseases with rituximab has been initiated in France since March 2008 to better assess the tolerance of this therapy. from 15th Paediatric Rheumatology European Society (PreS) Congress London, UK. 14–17 September 2008

Open Access Poster presentation Macrophage activation syndrome (MAS) in juvenile systemic lupus erythematosus (JSLE): an underrecognized complication? A Parodi*1, S Davi1, AB Pringe2, S Magni-Manzoni3, P Miettunen4, B BaderMeunier5, G Espada6, S Ozen7, D Wright8, C Magalhaes9, P Woo10, R Kubchandani11, A Grom12, H Michels13, C Wouters14, CE Toro Gutierrez16, G Sterba15, K Hayward17, D Guseinova18, A Fischer19, E Cortis20, M Vivarelli20, A Pistorio1, N Ruperto1, I Sala1, A Martini21 and A Ravelli21

The safety and efficacy of rituximab have been retrospectively assessed in 17 children with Evans syndrome. Patients received 4 or 3 weekly doses of rituximab (375 mg/m(2) per dose) associated with prednisone, alone (14 patients) or associated with other immunosuppressive drugs. Complete or partial remission of at least one cytopenia was achieved in 13 out of the 17 patients (76%), and lasted in 11 of them with a mean follow-up of 2.4 years (range 0.5-7 years). Steroid therapy was stopped or tapered at 50-100% of the baseline dosage in all long-term responders. Moderate side effects and infection occurred only in 4 and 1 children respectively.

Introduction La place des techniques d’epuration extracorporelle, echanges plasmatiques (EP) ou immunoadsorptions (IA), dans les connectivites severes ou resistantes aux therapeutiques classiques reste a definir. Nous rapportons 7 cas d’efficacite remarquable des EP ou IA dans le traitement (ttt) de dermatomyosites juveniles (DMJ) severes. Materiel et methodes Etude retrospective monocentrique. Patients : DMJ ayant ete traites par EP ou IA apres echec des ttt classiques. Resultats Sept patients (E) âges de 5 a 15 ans : - atteints de DMJ severe : impotence fonctionnelle majeure et/ou complication severe (fausse route, atteinte digestive perforante, micro-angiopathie thrombotique) -d’evolution aigue (3/7) ou chronique (4/7) -resistants a la corticotherapie systemique (7/7) et a au moins 1 immunosuppresseur (6/7). Biopsie musculaire (6/7) : aspect ischemique predominant (5/6). Auto-anticorps (Ac) AAN 5/7, anti-NXP2 2/7, anti-TIF1γ 1/7. Ttt par EP (apherese et substitution par albumine) : 5/7 et/ou IA (substitution par immunoglobulines : Ig) : 3/7. Rituximab en association : 6/7. Le ttt par EP ou IA permettait dans tous les cas un controle de la maladie parfois spectaculaire et rapide : augmentation des parametres du testing musculaire (moyenne gain MMT : +9 [1–31] points et CMAS : +8 [4–14] points en 5 [1–12] semaines), diminution des CPK (d’un facteur 25 [2–141] en moyenne a 2 semaines), regression des complications sans recidive (5/7). La moyenne de duree d’EP/IA etait de 7 [4–11] semaines en cas d’evolution aigue et de 33 [3–58] semaines en cas d’evolution chronique. Complications : sepsis sur catheter central et cephalees sous EP (1/7). Discussion Les EP/IA ont permis un controle de la maladie chez 7 E/7. L’evolution rapidement favorable apres le debut des EP/IA et le delai d’action classiquement plus long du rituximab (8 a 20 semaines) suggerent l’efficacite intrinseque des EP/IA en ttt « d’attaque » ; un ttt de fond restant necessaire. Dans ces DMJ, l’atteinte musculaire histologique principalement ischemique et necrosante suggere des alterations endotheliales majeures qui incitent a l’utilisation des EP/IA qui agissent en epurant non seulement les Ac mais aussi les cytokines et complexes immuns. En cas d’atteinte chronique, les durees d’EP/IA etaient prolongees, ce qui pose la question de leur introduction precoce dans l’evolution de DMJ refractaires aux ttt classiques. Les perfusions d’Ig prophylactiques systematiques a chaque seance d’IA pourraient aussi contribuer a l’efficacite therapeutique. La tolerance et l’efficacite comparative des deux techniques restent a evaluer dans cette indication. Conclusion Les EP ou IA sont un ttt efficace des DMJ severes a la phase aigue ou chronique sans attendre une iatrogenie ou l’echec des ttt classiques. Leur ligne de prescription (en fonction des caracteristiques cliniques, biologiques et histologiques) et le choix entre les 2 techniques sont a mieux codifier.

Introduction Le Lupus systemique (LS) est une maladie auto-immune qui peut debuter a l’âge pediatrique, les formes a debut precoce etant plus severes que les formes de l’adulte. Contrairement aux LS adultes [1] , les causes de mortalite sont peu etudiees dans cette population pediatrique dont la prevalence etait recemment estimee a environ 500 individus en France [2] . En France, une enquete retrospective menee sur une periode de dix ans (1996–2006) aupres des centres referents avait identifie 12 deces [3] . Une meilleure connaissance des causes de deces et des comorbidites associees est essentielle pour ameliorer les strategies preventives et therapeutiques. Le but de l’etude MORTALUPED etait d’analyser les causes de deces lies aux LS pediatrique en France en utilisant une analyse en causes multiples. Patients et methodes Les donnees recueillies dans la base de donnees du centre epidemiologique francais pour les causes medicales de deces (CepiDc, Inserm) correspondant a des certificats de deces de tout patient âge de moins de 18 ans pour la periode 2000–2011, sur lesquels le LS a ete repertorie (CIM-10 du code L93 ou M32) comme une cause initiale ou associee de deces (analyse en causes multiples), ont ete analysees. Resultats Trente-cinq deces ont ete identifies, dont 5 ont ete exclus des analyses ulterieures (âge [3] , 28 deces lies au LS ont ete identifies dans la base de donnees CepiDc. Conclusion A notre connaissance, il s’agit de la premiere etude par analyse en causes multiples de mortalite dans le lupus pediatrique. Elle confirme l’interet d’une telle approche pour recueillir un nombre plus important de cas de deces dans le contexte d’une maladie rare comme LS pediatrique. Chez les patients avec LS pediatrique, les causes conduisant a la mort semblent etre principalement des manifestations graves de la maladie ainsi que des infections graves et/ou opportunistes. Le sex-ratio au deces inferieur a la population pediatrique vivante suggere une severite plus elevee chez les jeunes patients de sexe masculin.

We read with interest the paper by Banka et al 1 who identify microduplications of chromosome 8q22 as the cause of Leri’s pleonostosis, a disease belonging to the ‘transforming growth factor beta (TGF-beta)-pathies’ group of musculoskeletal disorders. We have been involved in the identification of rare monogenic systemic lupus erythematosus (SLE), especially inherited interferonopathies,2 ,3 and we agree with the authors that the common phenotype of autoimmune diseases, such as SLE and systemic sclerosis (SSc), could be explained by involvement of different disease-associated genes in related physiological pathways. Herein we aim to report for the first time that mutation in matrix metalloproteinase-2 (MMP-2) may result in scleroderma-like skin thickening. A 12-year-old girl was referred because of distal osteoporosis revealed by several pathological appendicular fractures since the age of 8 years. There was no family history. Physical evaluation revealed mildly coarse face, hypertrophic scars and keloids, …

Background Childhood-onset panniculitides are rare and classically include infectious, connective tissue, malignant, metabolic, and drugs, cold or trauma-induced panniculitis. Some specific types of panniculitis are only seen in neonates and very young infants, and include subcutaneous fat of the newborn, poststeroid panniculitis, sclerema neonatorum, and cold panniculitis. However, no specific discoverable etiology can be identified in many patients. Objectives To describe the spectrum of clinical and pathological manifestations of childhood-onset panniculitis of unknown cause Methods A retrospective single-center study of children presenting with panniculitis diagnosed by skin biopsy Results Eighteen patients were identified. The onset of symptoms occurred within the first two years of life in 15/18 patients (83%). Panniculitis was the revealing manifestation in 15/18 (83%) patients, and relapsed in 13/18 (72%) patients. Associated-non-cutaneous features occurred in 16/18 (89%) patients, especially autoinflammatory manifestations in 13/18 patients (72%), associated with immunodeficiency in 5 patients (low T or B cells count with hypogammaglobulinemia in 4 and 1 patients respectively). Autoinflammatory manifestations consisted in attacks of fever with an elevation of acute phase reactants associated with polyarthritis or polyarthralgia (2 patients), rash (2 patients) or aseptic adenitis (2 patients). Panniculitis was mostly lobular in 10 (55%) patients, septal in 3 (17%) patients or both in 5 patients (28%). Predominant infiltrate consisted of neutrophils, cytophagic histiocytes, lymphocytes, eosinophils in 8 (44%), 5 (28%), 3 (17%), and 1 (5.5%) patients respectively, and included granuloma in 1 patient. No relationship was found between clinical and pathological features. Genomic mutations were identified in 3 of the 4 patients who underwent genetic analysis: mutations in TRNT1, MVK (mevalonate kinase) and LCK genes. Conclusions This series underlines that auto-inflammatory diseases, possibly associated with inherited immunodeficiency, are a main cause of early-onset panniculitis. The identification of a monogenic cause in 3 patients and the early-onset presentation of the disease suggest that a subset of patients has a genetic predisposition to develop panniculitis, especially early-onset panniculitis. Disclosure of Interest None declared

Background Juvenile dermatomyositis (JDM) is a rare and heterogeneous pediatric-onset idiopathic inflammatory myopathy. It is a heterogeneous disease which may be complicated by life-threatening complications. Identifying causes, clinical and biological manifestations and outcomes of such complications may be helpful for their better early management Objectives We aim to describe the causes of admission in paediatric intensive care unit (PICU), clinical and biological presentation and outcomes of JDM patients Methods Retrospective study of JDM patients admitted in two french paediatric PICUs from 2005 to 2013 among a cohort of 116 JDM patients followed during the same period. Results 11/116 JDM patients (9.5%) (8 girls and 3 boys, median age at diagnosis: 9.0±3.1 years) were admitted in ICUs because of digestive involvement (digestive perforation: 2 patients, digestive ulceration: 1 patient, severe ileus: 1 patient), cardiac involvement (severe bradycardia: 1 patient, cardiac arrest: 1 patient), respiratory failure resulting from hypoxemic pneumonia (1 patient), thrombotic microangiopathy (TMA) (2 patients), posterior reversible encephalopathy syndrome (PRES) related to cyclosporine use (1 patient), and anaphylactic shock after an infusion of Rituximab. At admission in ICU, patients presented with some manifestations which did not usually occur in typical JDM:) generalized edema (6/11 patients), hyponatremia (9/11 patients), hypoalbuminemia (9/11 patients) and thrombocytopenia (7/11 patients). Treatment consisted in corticosteroids (including pulses of methylprednisolone in 5 patients), intravenous immunoglobulin (7), plasmapheresis (7), infusions of rituximab (4) and cyclophosphamide (2). The mean duration of stay in PICU was 18.2 days. One patient died in ICU from pneumocystis carinii pneumonia. The remaining 10 patients are in complete or partial remission with a median duration of follow-up of 4,8 years. Conclusions Severe digestive vasculopathy, cardiac and pulmonary involvements, TMA and therapy-related adverse events were responsible for admissions in PICU in 9,5% of JDM patients in our cohorts. This report suggests that generalized edema, thrombocytopenia revealing TMA, hyponatremia and hypoalbuminemia are associated with severe JDM, and that pulses of methylprednisolone might favour digestive perforation in patients with preexisting gastrointestinal vasculitis. Outcomes was favourable in all the patients presenting with non-infectious severe complications. Disclosure of Interest None declared

Background The paediatric vasculitides are a group of rheumatic diseases characterized by blood vessel inflammation. Several vasculitic syndromes can be distinguished based on the size of the involved vessels as well as the specific symptoms. Incidence of these syndromes is low and evidence-based paediatric guidelines are lacking. SHARE (Single Hub and Access point for paediatric Rheumatology in Europe) is a project that aims to develop European evidence-based guidelines for diagnosis and treatment of these and other rare paediatric rheumatic diseases (PRD). Objectives To develop evidence-based recommendations for diagnosis and treatment of paediatric vasculitides, i.e. Kawasaki Disease (KD), Henoch Schonlein Purpura (HSP), Polyarteritis Nodosa (PAN), Granulomatosis with Polyangiitis (GPA), Eosinophilic granulomatosis with Polyangiitis (EGPA) and Takayasu9s Arteritis (TA). Methods A systematic review of literature was conducted (results presented at PReS 2014), from which evidence-based recommendations were derived. A European expert committee evaluated these recommendations, both by online surveys and by discussion using the nominal group technique1 during several in-person consensus meetings in Genoa (Italy, March ’14, results presented at PReS 2014), Utrecht (the Netherlands, January ’15) and Barcelona (Spain, March ’15). Recommendations were accepted for the final guidelines if more than 80% agreement was reached. Results Evidence from literature and expert opinion led to the formulation of recommendations for the different paediatric vasculitides. Adding to the 44 statements accepted with more than 80% consensus in Genoa, an additional 78 statements were accepted in Utrecht. Included statements ranged across different topics, including criteria for diagnosis, referral indications, clinical and laboratory parameters, imaging and treatment of the different vasculitic syndromes. Statements for discussion in Barcelona will focus on general and interdisciplinary aspects of care for children with vasculitis and other PRDs. Conclusions SHARE aims to provide minimal standards of care for PRD. We present the final recommendations for diagnosis and treatment of paediatric vasculitides. These recommendations will contribute to a more uniform and evidence-based foundation for diagnosis and treatment of KD, HSP, PAN, GPA, EGPA and TA in children. References Harvey N, Holmes CA. Nominal group technique: an effective method for obtaining group consensus. Int J Nurs Pract. 2012; 18:188-94 Acknowledgements This project is supported by a grant from European Agency for Health and Consumers (EAHC), grant number 2011 1202. Disclosure of Interest None declared

Background Pediatric-onset inflammatory myositis (IM) and systemic lupus erythematosus (SLE) are rare inflammatory diseases. They result from the complex interaction between genetic and environmental factors. An increasing number of Mendelian conditions predisposing to the development of SLE have been recently identified. They mostly include monogenic conditions, especially type I interferonopathies, associated with an up-regulation of type I interferon (IFN), a key cytokine in SLE and some IM pathogenesis. Methods Here, we report on a pediatric-onset overlap myositis in a 6-year-old girl who carries mosaic tetrasomy 9p. Results The patient presented with myositis overlapping with lupus-like features. Myositis was characterized by a proximal muscular weakness and HLA class I antigens myofiber overexpression on muscle biopsy. Lupus-like manifestations consisted in pericarditis, pleuritis, and positive ANA and anti-SSA antibodies. Complete remission was achieved with three pulses of methylprednisolone, followed by an oral course of steroids in combination with mycophenolate mofetyl. Analysis of tetrasomy 9p showed mosaic tetrasomy in 9p24.3p12 region, including the type I IFN cluster, and increased expression of interferon (IFN)-regulated genes was found. Conclusions These data suggest that mosaic tetrasomy 9p is a new monogenic interferonopathy predisposing to inflammatory myositis and lupus-like features. Therefore, unexplained inflammatory muscle or other organ involvement in patients carrying mosaic tetrasomy of the type IFN cluster of chromosome 9p should lead to the search for IM and/or lupus-like disease, and karyotype should be performed in SLE or IM patients with mental retardation. References Crow YJ. Type I interferonopathies: a novel set of inborn errors of immunity. Ann N Y Acad Sci. 2011 Nov;1238:91–8 Ernste FC, Reed AM. Recent advances in juvenile idiopathic inflammatory myopathies. Curr Opin Rheumatol. 2014 Nov;26(6):671–8. Disclosure of Interest None declared

Ghosal hemato-diaphyseal dysplasia is a rare autosomal recessive disorder characterized by a progressive sclerosing diaphyseal dysplasia and refractory anemia. The pathogenesis and genetic bases of this syndrome remain hitherto unknown. We have performed a genome wide search in two inbred families originating from Algeria and Tunisia. Here, we report on the mapping of a disease gene to chromosome 7q33–34 (Z max = 4.21 at θ = 0 at locus D7S2513) in a 3.4 Mb defined by loci D7S2560 and AC091742. Ongoing studies will hopefully lead to identification of the disease-causing gene.

Rituximab use in severe auto-immune diseases has recently increased. Scattered reports of opportunistic infections were the only reported serious side effects related to rituximab in pediatric patients .Here, we report transient severe acute thrombocytopenia and neutropenia respectively a few days after rituximab infusion in two children with autoimmune haemolytic anaemia. In both cases, cytopenia was reversible in a few days. The occurrence of cytopenias shortly after an infusion and their rapid reversibility suggest that these hematological side-effects were attributable to a direct toxicity of rituximab. Blood cell count must be carefully monitored after rituximab infusion in young children with autoimmune diseases.

Childhood-onset lupus erythematosus is a rare disorder of unknown origin.To describe the frequency of gastrointestinal manifestations at presentation of systemic lupus erythematosus SLE and at follow-up, and discuss the specific causes of these manifestations.Medical records of 201 patients with childhood-onset SLE followed up in French paediatric nephrological, haematological and rheumatological centres were reviewed and abstracted for gastrointestinal manifestations.Gastrointestinal involvement was recorded in 39 (19%) children. The median (range) age at the time of initial gastrointestinal manifestations was 11.3 (4.5-16) years. Gastrointestinal symptoms were present at or occurred within 1 month after diagnosis in 32% patients. Abdominal pain was the most frequent symptom, present in 34 (87%) patients. It was mostly related to lupus involvement, especially ascites (n = 14) and pancreatitis (n = 12), more rarely to treatment-induced events (n = 1) or infection (n = 1) and never to events unrelated to SLE. Three children with surgical abdomen underwent a laparotomy before SLE was diagnosed, with a final diagnosis of lupus peritonitis and lupus acalculous cholecystitis. C reactive protein values were40 mg/l in all but two patients who had surgical abdomen. Abdominal ultrasonography and computed tomography scans were abnormal in 58% and 83% of the evaluated patients, respectively. Corticosteroids, associated with intravenous cyclophospamide in eight patients, led to complete remission of gastrointestinal involvement in 30 of 31 treated patients.Gastrointestinal involvement is common in children with SLE, and is mainly due to primary lupus involvement. Corticoidsteroid treatment should be promptly considered in children with lupus presenting with abdominal pain after infectious disease; side effects of treatment and intestinal perforation have been excluded.

Reactive hemophagocytic syndrome (HS) occurs mainly in the setting of serious infections and lymphomas. HS can occur in the course of 2 active systemic diseases, without simultaneous infection: adult Still disease and systemic lupus erythematosus (SLE). Observations of specific lupus-associated HS are rare, and the long-term outcome of these patients with active SLE is unknown. We retrospectively studied 15 episodes of SLE-associated HS in 12 patients (10 women, 2 men) and noted the long-term outcome. HS occurred at a mean age of 25 years. All patients were febrile with >or=2 cytopenias, and bone marrow aspiration indicated hemophagocytosis. HS revealed SLE in 9 patients and recurred in 3. The main features of SLE-associated HS were a low frequency of hepatosplenomegaly, a high frequency of heart involvement (5 pericarditis, 4 myocarditis requiring transfer to intensive care unit), and a low C-reactive protein level (mean, 15 mg/L). Cutaneous-mucous symptoms of SLE, arthritis, and nephritis were present respectively in 8 (53%), 6 (40%), and 4 (27%) episodes, but symptoms of SLE were absent in 4 episodes at admission. All patients had anti-nuclear antibodies when the HS occurred. Anti-double-stranded DNA antibodies were present in 12 episodes. Treatment was steroids in 14 cases but cyclophosphamide was the only treatment able to control HS in 2 cases. All the cases of SLE-associated HS were controlled by the immunosuppressive regimen. Intravenous immunoglobulins seemed poorly effective. No infectious agent was found. Clinical presentations of the 23 patients with SLE-associated HS described in the literature were reviewed and were similar to those of the current series. The mean follow-up was 88 months (range, 7-240 mo). One patient died at 15 months (sepsis). Among the 5 patients with a follow-up >8 years, 4 always had active disease. During the follow-up of SLE, immunosuppressive drugs were added in 8 patients (cyclophosphamide in 7, azathioprine in 3, mycophenolate mofetil in 2) with significant adverse drug reactions. In the long-term, SLE-associated HS seems to define a severe SLE form with frequent flares, possible HS recurrences, and the need for prolonged immunosuppression.

The two main complications of severe chronic neutropenia are fatal sepsis and myelodysplasia/acute leukemia (MDS/AL). Granulocyte colony-stimulating factor (G-CSF) therapy has significantly reduced the frequency and severity of infections, but its possible influence on the risk of malignancy is not known.The French Severe Chronic Neutropenia (SCN) Registry has prospectively collected data since 1994 on 231 patients with various forms of SCN, namely severe congenital neutropenia (n=101), cyclic neutropenia (n=60), glycogen storage disease type Ib (GSDIb) (n=15) and Shwachman-Diamond syndrome (SDS)(n=55). The median overall follow-up is 11.1 years. Parameters of exposure to G-CSF therapy, such as the time averaged dose, follow up after first use of G-CSF, and the cumulative dose, have been recorded.Eight septic deaths occurred, of which 6 among patients with severe congenital neutropenia and 2 in patients with cyclic neutropenia; none of these 8 patients was receiving G-CSF therapy. No septic deaths occurred during G-CSF therapy. Thirteen cases of MDS/AL were recorded. The cumulative incidence of MDS/AL was 2.7% (SD 1.3%) at 10 years and 8.1% (SD 2.7%) at 20 years.Risk factors for MDS/AL were the diagnostic category, the severity of neutropenia, younger age at diagnosis, and strong exposure to G-CSF. MDS/AL only occurred in patients with severe congenital neutropenia and SDS. Owing to their particular susceptibility to infections, patients with severe congenital neutropenia had the strongest exposure to G-CSF; the risk of leukemia increased with the degree of G-CSF exposure in this subgroup.

International audience; Mutations in the perforin gene cause familial hemophagocytic lymphohistiocytosis (FHL). The first symptoms of FHL are usually intractable fever, hepatosplenomegaly, and pancytopenia. Most FHL patients subsequently develop central nervous system (CNS) manifestations due to infiltration of tissues by activated lymphocytes and macrophages. We report 2 FHL patients with an atypical phenotype characterized by isolated severe neurologic symptoms mimicking chronic encephalitis and leading to an early death. Functional and molecular analyses revealed the same novel missense mutation in the perforin gene in both patients; this mutation affected the calcium-binding domain of the protein. This missense mutation did not affect perforin maturation or expression in cytotoxic cells but impaired in vitro cytotoxic activity. Diagnosis was delayed in both patients because of the initial neurologic expression and the normal expression of perforin in circulating lymphocytes. This emphasizes the importance of early diagnosis of this atypical form of FHL, as CNS involvement causes severe, irreversible encephalopathy. This observation also raises the question of the role of some mutations in the neurologic expression of FHL.

Purpose Children ultimately diagnosed with nonimmune chronic thrombocytopenia are often referred to pediatric hematology clinics with a provisional diagnosis of autoimmune thrombocytopenic purpura (AITP). The authors' aim was to establish in these patients the features characterizing the mechanism of thrombocytopenia. Patients and Methods The authors performed a retrospective review of the case records of seven children (three boys and four girls, aged 5 months to 7 years) with misdiagnosed chronic AITP referred to a single pediatric hematology center between 1990 and 2000. Results In the seven children, the suspected diagnosis on referral was AITP and the final diagnosis was inherited thrombocytopenia. Abnormalities of platelets and/or leukocyte morphology were present in all of them. Other features suggestive of inherited thrombocytopenia included a history of familial thrombocytopenia (2/7), failure of steroids and/or intravenous immunoglobulins to raise the platelet count to normal levels (5/7), and moderate increase of Indium-111 platelet turnover in the two patients tested. Platelet-associated IgG (PaIgG) was above the normal threshold in the four children tested; the direct monoclonal antibody immobilization of platelet antigens (MAIPA) test was negative in the four children tested and the serum test was positive in two boys. Bone marrow examination revealed either a normal (4/7) or an elevated (3/7) number of megakaryocytes. Conclusions Family history and blood cell morphology analysis in experienced hands are the first steps in discriminating AITP from inherited thrombocytopenia in children with isolated chronic thrombocytopenia. In contrast, bone marrow examination and search for specific autoantibodies using the MAIPA test are of little help. An isotopic platelet life span study, when available, should be performed before considering splenectomy to exclude the diagnosis of inherited thrombocytopenia, especially when steroids and/or IgG IV administration failed to raise the platelet count.

The authors report a case of septic venous sinus thrombosis (VST) and meningitis occurring as an early complication of mastoiditis caused by Fusobacterium necrophorum. CT scan was normal, and cerebral angiography was required to diagnose the VST. The evolution was favourable with appropriate antimicrobial therapy and steroids.

To determine whether the use of maintenance therapy (MT) delivered after intensive induction and consolidation therapy confers any advantage in childhood acute myeloid leukemia (AML).A total of 268 children with AML were registered in the Leucámie Aiquë Myéloïde Enfant (LAME) 89/91 protocol. This regimen included an intensive induction phase (mitoxantrone plus cytarabine) and, for patients without allograft, two consolidation courses, one containing timed-sequential high-dose cytarabine, asparaginase, and amsacrine. In the LAME 89 pilot study, patients were given an additional MT consisting of mercaptopurine and cytarabine for 18 months. In the LAME 91 trial, patients were randomized to receive or not receive MT.A total of 241 (90%) of 268 patients achieved a complete remission. The overall survival and event-free survival at 6 years were 60% +/- 6% and 48% +/- 6%, respectively. For the complete responders after consolidation therapy, the 5-year disease-free survival was not significantly different in MT-negative and in MT-positive randomized patients (respectively, 60% +/- 19% v 50% +/- 15%; P =.25), whereas the 5-year overall survival was significantly better in MT-negative randomized patients (81% +/- 13% v 58% +/- 15%; P =.04) due to a higher salvage rate after relapse.More than 50% of patients can be cured of AML in childhood. Either drug intensity or each of the induction and postremission phases may have contributed to the outstanding improvement in outcome. Low-dose MT is not recommended. Exposure to this low-dose MT may contribute to clinical drug resistance and treatment failure in patients who experience relapse.

Type I congenital disorders of glycosylation (CDG I) are diseases presenting multisystemic lesions including central and peripheral nervous system deficits. The disease is characterized by under-glycosylated serum glycoproteins and is caused by mutations in genes encoding proteins involved in the stepwise assembly of dolichol-oligosaccharide used for protein N-glycosylation. We report that fibroblasts from a type I CDG patient, born of consanguineous parents, are deficient in their capacity to add the eighth mannose residue onto the lipid-linked oligosaccharide precursor. We have characterized cDNA corresponding to the human ortholog of the yeast gene ALG12 that encodes the dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl alpha6-mannosyltransferase that is thought to accomplish this reaction, and we show that the patient is homozygous for a point mutation (T571G) that causes an amino acid substitution (F142V) in a conserved region of the protein. As the pathological phenotype of the fibroblasts of the patient was largely normalized upon transduction with the wild type gene, we demonstrate that the F142V substitution is the underlying cause of this new CDG, which we suggest be called CDG Ig. Finally, we show that the fibroblasts of the patient are capable of the direct transfer of Man(7)GlcNAc(2) from dolichol onto protein and that this N-linked structure can be glucosylated by UDP-glucose:glycoprotein glucosyltransferase in the endoplasmic reticulum.

Introduction Les formes graves de dermatomyosites (DM) qui necessitent une admission en reanimation ou en unite de soins intensifs (rea/USI) sont rares chez l’enfant. Nous rapportons 11 cas de DM juveniles (DMJ) afin de determiner les motifs de prise en charge en reanimation, les signes d’alerte precoces de gravite et leur evolution. Materiel et methodes Il s’agit d’une etude retrospective des DMJ ayant necessite une hospitalisation en reanimation ou unite de soins intensifs entre 2005 et 2013 dans 2 centres (Necker-Enfants–Malades, Toulouse). L’anamnese, les caracteristiques cliniques et biologiques au diagnostic et a leur admission ont ete recueillies pour chaque patient. Observations Parmi les DMJ, 11/118 (8 filles et 3 garcons, âge median au diagnostic : 9,0 ± 3,1 ans) ont ete admises en rea/USI (9,3 %) pour les motifs suivants : 4 atteintes digestives (dont 2 avec des perforations digestives multiples, survenues au decours de bolus de corticoides), 2 cardiaques (1 arret cardiorespiratoire), 1 pneumopathie hypoxemiante, 1 PRES syndrome (sous ciclosporine), 2 micro-angiopathies thrombotiques (MAT) renales et 1 choc anaphylactique au rituximab. Resultats Des anomalies clinico-biologiques inhabituelles des DMJ et prodromiques de complications severes ont ete observees : hyponatremie (9) et hypoalbuminemie (9) et/ou formes œdemateuses generalisees (6), anemie (8), douleurs abdominales (7), thrombopenie (7). Parmi les 107 autres cas, aucun n’avait d’œdeme generalise, de thrombopenie ni d’hypoalbuminemie. Les traitements ont comporte : corticotherapie (11/11) dont bolus (5), immunoglobulines IV (7), echanges plasmatiques (EP) (7), rituximab (4) et cyclophosphamide (2). Evolution : un deces par pneumocystose pulmonaire ; 10 remissions partielles au decours du passage en reanimation. Actuellement, 5 sont en remission complete (dont 1 sous traitement) et 5 en remission partielle sous traitement. Discussion Certains signes semblent associes aux poussees severes de DMJ : les formes œdemateuses generalisees, de probables syndromes de fuite capillaire, l’atteinte digestive, les signes de MAT (thrombopenie), l’hyponatremie et l’hypoalbuminemie. Un diagnostic des complications et leur prise en charge precoces permettent d’obtenir une remission malgre la severite de certaines formes. Conclusion Cette etude suggere que des EP eventuellement associes au rituximab doivent etre rapidement discutes dans les formes tres severes. Les bolus de corticoides semblent favoriser la survenue de perforations digestives chez des patients ayant une atteinte digestive specifique prealable.

Antiphospholipid syndrome (APS), either primary or secondary to other paediatric rheumatic diseases, is rare in children, but it can lead to significant morbidity. Evidence-based guidelines are sparse and management is mostly based on physician’s experience. Consequently, treatment regimens differ throughout Europe. In 2012, a European initiative called SHARE (Single Hub and Access point for paediatric Rheumatology in Europe) was launched to optimize and disseminate diagnostic and management regimens in Europe for children and young adults with rheumatic diseases such as APS.

Kawasaki Disease (KD) and Henoch Schonlein Purpura (HSP) are paediatric vasculitides that can lead to significant morbidity. Evidence-based guidelines are sparse and management is mostly based on physician experience. Consequently, treatment regimens differ throughout Europe. In 2012, a European initiative called SHARE (Single Hub and Access point for paediatric Rheumatology in Europe) was launched to optimize and disseminate guidelines for diagnosis and management for children and young adults with paediatric rheumatic diseases (PRD) such as KD and HSP within Europe.

Juvenile Dermatomyositis is a rare Pediatric Rheumatic Disease, associated with significant morbidity. Evidence-based guidelines are sparse and management is mostly based on physician’s experience. Consequently, treatment regimens differ throughout Europe. In 2012, a European initiative called SHARE (Single Hub and Access point for pediatric Rheumatology in Europe) was launched to optimize and disseminate diagnostic and management regimens in Europe for children and young adults with rheumatic diseases.

Background The radiological assessment of CRMO is currently the subject of countless works and the recent use of whole-body MRI leads to discuss the respective roles of the various imaging techniques. Objectives This study provides a descriptive evaluation of imaging OCMR, its diagnostic management and a comparison between different techniques. Methods 178 CRMO patients were included (123 females and 55 males). The lesions detected by imaging (plain radiographs, isotopic bone scan and/or MRI) were collected by specifying the number, location (bone, proximal/distal and metaphyseal/epiphyseal/diaphyseal), character (lytic/sclerotic/mixed) and the signal MRI T1 and T2 (hypo/hyper). Results A total of 193 radiographic lesions were detected with the following distribution: tibia (n=44), the clavicle (n=34), the femur (n=23), the fibula (n=20) and pelvis (n=19). The lesions of the lower limbs accounted for 52% of the lesions. The lesions of the long bones were most often located in metaphyseal (58/76, 76%) and were lytic in 76/162 (47%) and sclerotic in 60/162 (37%). The isotopic bone scan detected 372 lesions localized to the pelvis (n=64), tibia (n=51), femur (n=44), clavicle (n=40) and vertebrae (n=29). The lesions of the pelvis were mainly in iliac bones (73%), proximal at clavicles (78%) and femur (57%), but distal at tibia (53%) and fibula (88%). Whatever the location of the long bones, the lesions were most often metaphyseal (65/92, 56%). MRI detected 515 lesions distributed as follows: pelvis (n=100), tibia (n=93) and femur (n=73). 51 vertebral lesions (10%) were detected in 36 patients. Most of them were localized at the thoracic level. The vast majority of lesions (98%) were hypo-T1 and hyper-T2. MRI showed metaphyso-epiphyseal and metaphyso-diaphyseal lesions usually undetectable in isotopic bone scan. Imaging has allowed confirming the multifocal pattern in 26/54 patients with clinical monofocal at the beginning of the disease. Of the remaining 28 patients with monofocal lesion at diagnosis, imaging contributed to confirm the multifocal pattern in 16 additional cases: a total of only 12 patients (7%) kept a pure monofocal evolution. In 15 patients, scintigraphy and whole-body MRI were performed at the same time (±3 months). Analysis of these 15 patients showed a higher sensitivity to detect lesions by MRI (6.7±3.1 vs 3.4±2.4, p=0.003) and better localization of lesions. Clinical chronic non bacterial osteitis (CNO) score was interpretable in 110 patients: the application of this score would have, in this cohort, to avoid 27/110 biopsies. Conclusions The study of imaging in this large CRMO French cohort confirms the interest of imaging to characterize multifocal involvement of CRMO and help prevent invasive procedures for diagnostic purposes. MRI confirms its sensitivity to detect more lesions including spinal and pelvis than isotopic bone scan. MRI provided a more detailed description of the location of the lesions. Disclosure of Interest None declared DOI 10.1136/annrheumdis-2014-eular.5337

Objectifs description de l’imagerie des OCMR. Materiel et methodes etude multicentrique (12 CHU),178 patients (123 filles, 55 garcons), âge au diagnostic 10.9±2.9 ans. Patients avec lesions d’OCMR a l’IRM ou scintigraphie osseuse et radiographies, avant 18 ans inclus. Criteres d’exclusion : osteite septique, tumorale, arthrite juvenile idiopathique. Resultats un tiers (54/178) des patients presentait une atteinte clinique oseuse unifocale, 47% aux membres inferieurs. A l’imagerie,52% (28/54) etaient multifocales. Seulement 7% des patients gardaient au final une forme unifocale « vraie ».La radiographie osseuse a detecte 193 lesions. La scintigraphie; 372 lesions principalement au pelvis (n = 64), tibia, femur. L’IRM a detecte 515 lesions surtout au bassin (n = 100), tibia (n = 93) et vertebrales avec des lesions (98%) en hyposignal T1, hyperT2. Chez 15 patients ayant eu scintigraphie et IRM en meme temps,(+ / − 3 mois), l’IRM a detecte en moyenne 6,7±3,1 lesions contre 3,4±2,4 en scintigraphie, p =0.003. Conclusions il s’agit de la plus grande cohorte ayant permis une description detaille de l’imagerie des OCMR. L’IRM confirme sa sensibilite dans la detection d’un plus grand nombre de lesions notamment multifocales devant une atteinte clinique unifocale.

Background/Purpose: Dry synovitis is considered to be a rare form of JIA, incompletely understood and following a potentially destructive course. Since its first description only a few reports mention this entity within the spectrum of JIA. We aimed to describe the clinical and radiological manifestations, and the course of dry synovitis and to compare it with classical RF negative polyarticular JIA. Methods: A retrospective study of 10 patients in 3 pediatric rheumatology centers who presented with 1. progressive, symmetric polyarticular stiffness with limitations and without clinical synovitis, 2. radiologic signs of articular damage and 3. Absence of inflammatory parameters (CRP, ESR). Neuromuscular conditions and metabolic storage/bone disorders were excluded. This cohort was compared with 35 consecutive patients with classical polyarticular RF negative JIA. Clinical, laboratory and imaging (X-rays, MRI) data of both groups were reviewed. Results: The dry synovitis cohort included 4 boys and 6 girls. The median (range) age at first manifestation and diagnosis were respectively 4.3 yrs (1.1–8.9) and 7.3 yrs (2.8–14). Presenting signs comprised delayed motor development and/or progressive articular stiffness. Pain complaints emerged with time. Clinical examination showed a symmetric polyarticular involvement without clinical signs of synovitis. CRP was normal and ESR < 8mm/h. In 9/10 patients ANA were absent. Radiological imaging (wrist, ankles and/or pelvis) showed osteopenia, advanced bone age, cartilage loss and/or bone erosions in all patients. MRI revealed synovial thickening in 9/10 patients; bone edema was variably present and bone erosions were demonstrated in 8/10 patients. Treatments comprised NSAIDs (n = 8/10), corticosteroids (n = 8/10), methotrexate (n = 9/10), anti-TNF (n = 6/10), IL-1 receptor antagonist (n = 1/10) and resulted in some subjective improvement. However articular limitations persisted and imaging showed progressive (osteo)articular damage. The comparison of the dry synovitis with polyarticular JIA patients showed that the age at disease onset was comparable in the 2 groups. Significant differential features found in the dry synovitis cohort were higher diagnostic delay, increased number of joint involvement and contractures, lack of swelling and tenderness, and lack of increased acute phase response (CRP, ESR) and ANA. Conclusion: From our data, we conclude that ‘dry synovitis’ can be considered as a clinical descriptive term referring to the development of progressive symmetric polyarticular limitations. We show that MRI is usefull in demonstrating underlying subclinical inflammation and in combination with clinical features and standard X-rays helpful in the differential diagnosis with mucopolyssaccharidosis, neuromuscular disorders and bone dysplasia. Clinical as well as radiological evolution seem to be refractory to the current JIA therapy and to be different among patients diagnosed with ‘dry synovitis,’ suggesting that this clinical manifestation may represent a heterogeneous spectrum of joint and/or bone disorders. The exact nature of this entity and a possible contribution of a metabolic or intrinsic bone disorder into its pathogenesis remain to be determined.

Clinical manifestations of hereditary spherocytosis (HS) can be abrogated by splenectomy. However, concerns exist regarding exposure of patients to a lifelong risk for overwhelming infections and, to a lesser extent, to vascular complications after total splenectomy. In the search for alternative treatment modalities, we assessed, in a previous pilot study, the potential usefulness of subtotal splenectomy in a small population of patients. During a mean follow-up period of 3.5 years, subtotal splenectomy was shown to be effective in decreasing the hemolytic rate, while maintaining the phagocytic function of the spleen. In the current study, we evaluated the clinical and biologic features of 40 patients with HS who underwent subtotal splenectomy and were monitored for periods ranging from 1 to 14 years. The beneficial effect of subtotal splenectomy included a sustained decrease in hemolytic rate and a continued maintenance of phagocytic function of the splenic remnant. However, mild-to-moderate hemolysis was persistent and accounted for secondary gallstone formation and aplastic crisis in a small subset of patients. Surprisingly, regrowth of the remnant spleen did not seem to have a major impact on the beneficial outcomes of these individuals. Our results suggest that subtotal splenectomy appears to be a reasonable treatment option for management of patients with HS, especially young children.

Objectif Nous rapportons l’experience pediatrique Francaise de sept cas d’inflammation digestive survenus sous traitement par etanercept. Methodes Etude multicentrique retrospective. Les patients inclus etaient traites par etanercept pour une arthrite juvenile idiopathique (AJI) et ont developpe une inflammation digestive histologiquement prouvee sous ce traitement. Une relecture centralisee de toutes les biopsies digestives a ete effectuee. Resultats Sept patients ont ete inclus. Il a ete retrouve une inflammation digestive aspecifique (3 cas), ou une maladie de Crohn (4 cas). Une pancolite severe a ete notee chez 4 patients. Les signes digestifs comportaient : douleurs abdominales (n = 7), diarrhee (n =5), anorexie (n = 5), abces anal (n = 2), ulceres buccaux (n = 1) et febricule (n = 1). Une remission clinique a ete constatee chez tous les patients a l’arret de l’etanercept et mise en place d’un traitement specifique de l’inflammation digestive. Discussion L’imputabilite de l’etanercept a ete retenue sur (i) la survenue des symptomes apres son introduction, (ii) l’absence d’antecedents digestifs (iii) l’amelioration clinique a l’arret du traitement. Conclusion Une inflammation digestive doit etre evoquee devant l’apparition de symptomes evocateurs survenant sous traitement par etanercept.

Castleman disease is a distinct lymphoproliferative disorder of unknown origin. Seven new cases in children are reported here and 76 cases from the paediatric literature are reviewed. The disease has been reported in 46 females and 37 males, their age ranging from 2 months to 17 years. The disease was localized in 72 cases and multicentric in 11 cases. The hyalinovascular type was more frequently encountered (54%) than the plasma cell type (24%). Laboratory abnormalities were more often associated with the plasma cell type and were mainly represented by anaemia and hypergammaglobulinaemia. Treatment of the localized tumour consisted of surgical excision, whereas treatment of the multicentric form was medical, comprising prednisone and other immunosuppressor drugs. The disease in the paediatric population seems to have a more favourable course than in adults.The paediatric features of the disease suggest that Castleman disease in this population could represent an earlier form of the pathology or even suggest a benign lymphoproliferative disorder.