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Multisystem inflammatory syndrome in children (MIS-C) is a novel post-infectious disease occurring in the context of SARS-CoV2 infection. COVID-19 vaccines have been authorized since December 2020, and adverse events including myocarditis have been reported following vaccination. We describe the cases of two pediatric patients presenting with clinical and laboratory features suggestive of MIS-C a few days after receiving their first dose of the Pfizer BNT162b2 vaccine. The outcome was favorable for both patients (after corticosteroid and immunoglobulin administration for one patient). These cases suggest an association between the COVID-19 vaccine and the occurrence of MIS-C.

Backgroundpatients with chronic rheumatic inflammatory diseases (CRID, i.e. rheumatoid arthritis (RA) or spondyloarthritis (SpA)) have been reported to have poorer pregnancy outcomes than the general population.Objectivesto describe the pregnancy outcomes of singleton in patients with CRID in France in the past decade.Methodsthis is an analysis of the French Health Insurance claims database (SNDS), which represents 87% of the French population) from 2008 to 2016. To be included in the analysis patients had to be identified as RA or SpA according to existing diagnostic algorithms, to have at least one pregnancy declaration in the database, and to have continuous health insurance from 1-year before pregnancy onset to 1-year after end of the pregnancy or until death (if death occured before the 1-year-period after the end of pregnancy) to be included. Only the first singleton pregnancy occurring during the study period was included in this analysis. Both maternal and pregnancy outcomes were considered. Outcomes were identified either by ICM-10 codes or hospital discharge summaries discharge between 2008-2016.ResultsAmong the 35 737 identified adult females with a CRID diagnosis (40.7% with RA and 59.3% with SpA), 27 722 (78%) had a pregnancy during the study period. 11 274 (42%) had received at least one DMARD prior to the pregnancy and were included in the analysis. Among them, only 4025 (36%) were exposed to DMARDs during pregnancy.Mean (SD) age of females at the start of the pregnancy was 32 (5) years, and mean (SD) disease duration was 4 (4) years. Pregnancy ended before 13 WG in 21% and after 37 WG in 70% cases. Live-birth represented the most frequent pregnancy outcome (76.9%), and overall 34.7% patients presented at least one unfavorable outcome (see Table 1).Table 1.Unfavourable outcomeN(%)Pregnancy outcomesMiscarriage ()579 (5.3%)Abortion91 (0.8%)Stillbirth48 (0.4%)Preterm delivery (>= 22WG and )779 (7.1%)Low weight at birth ()287 (2.6%)Perinatal mortality (22WG to 6 days of life)2 (0%)Maternal outcomesSevere maternal infection*211 (1.9%)Newborn outcomesHospitalisation in neonatal intensive care > 48h in full-term newborns (after 37 WG)95 (0.8%)Neonatal mortality (27 first days of life)2 (0%)Severe infection * during first year603 (5.3%)ConclusionMore than 75% pregnancies in patients with CRID resulted in a live-birth. Prevalence of miscarriage was surprisingly low, probably related to under-coding. Maternal and infant outcomes seemed comparable to general population. Whether medications had an impact on such outcomes is currently under evaluation.Disclosure of InterestsNone declared

BackgroundTreatment of patients with chronic rheumatic inflammatory diseases (CRID) during pregnancy has changed in the last decade, namely due to the availability of new DMARDs labelled to be used during pregnancy.ObjectivesTo describe the anti-rheumatic drug use during pregnancy in women with CRID (i.e. rheumatoid arthritis (RA) or spondyloarthritis (SpA)) in France over the past decade.MethodsThis is a retrospective cohort study within the French Healthcare database (SNDS), which covers 98% of the French population. Adult women were included if they had RA or SpA according to CIM-10 codes, had started a singleton pregnancy between 2008 and 2017 (index date), and were continuously covered by this health insurance from 1-year before pregnancy onset to 1-year after end of the pregnancy or death (whichever comes first). The treatment exposures of interest were: NSAIDs, oral corticosteroids, csDMARD (methotrexate, leflunomide, sulfasalazine, azathioprine, hydroxychloroquine), biologics (anti-TNF, rituximab, abatacept, tocilizumab, ustekinumab, anakinra). Exposure during pregnancy was defined as at least one drug reimbursement from the 6 months before the last menstrual period (LMP) to the end of pregnancy period.ResultsAmong the 35,737 adult women with a CIRD (40.7% with RA and 59.3% with SpA) who had a past history of DMARD reimbursement, 11,274 (41.7%) started a singleton pregnancy during the study period. In total, during preconception and pregnancy, 4,773 (42.3%) women were not delivered any DMARD nor corticosteroids, 769 (6.8%) were delivered corticosteroids alone, 3,639 (32.2%) a csDMARD alone and 2,862 (25.4%) a biologic (among whom 33.1% associated a csDMARD). Biologics delivered during pregnancy were mainly anti-TNFs (92.1%).Exposure to NSAIDs was more frequent during the first trimester (30% patients) of pregnancy but occurred all along the pregnancy (6% and 2% in the second and third trimesters, respectively). Conversely, exposure to oral corticosteroids was stable during the pregnancy (33% to 27%); however, more than half of the prescriptions corresponded to doses higher than 10mg. Exposure to DMARDs including bDMARDs during pregnancy was more frequent during the first trimester, compared to the rest of the pregnancy (see graph).ConclusionOverall, less than 50% of women with a CRID who received a DMARD prior to the pregnancy continued to retrieve such treatment during pregnancy, and overall less than 20% were delivered biologics during pregnancy. Whether the withdrawal of DMARDs led to unfavorable maternal and pregnancy outcomes needs to be evaluated.AcknowledgementsThis study was conducted thanks to a grant from the French Ministry of Health - Programme Hospitalier de Recherche CliniqueDisclosure of InterestsAnna Moltó Consultant of: UCB, Abbvie, Lilly, Pfizer, BMS, MSD, Novartis, Biogen, Janssen, Grant/research support from: UCB, Aya Ajrouche: None declared, Diep Tran: None declared, Barbara Roux: None declared, Nathalie Costedoat-Chalumeau Grant/research support from: UCB, Elisabeth Elefant: None declared, Vassilis Tsatsaris: None declared, Jeanne Fresson: None declared, Brigitte Bader-Meunier: None declared, Bruno Fautrel: None declared, Florence Tubach: None declared

BackgroundSystemic diseases of pediatric onset are more frequent in Afro-Caribbean population, especially Pediatric systemic lupus (pSLE).ObjectivesOur work is a retrospective study of patients followed in French overseas departments of America for systemic disease or auto-inflammatory syndrome of pediatric onset. It describes their clinical and biological specificities at diagnosis, during childhood and early adulthood.MethodsOur retrospective study was conducted between 01/01/2000 and 01/09/2021. Listings of adult patients with pediatric onset and pediatric patients were obtained in each center through computerized hospital archives, list of patients followed by referent pediatricians and adult specialists in internal medicine and the French National Registry for rare disease. Data were then gathered by going through their medical files. The spectrum of diseases studied included pSLE, Sjogren syndrome, antiphospholipid syndrome (APS), connectivitis, systemic scleroderma, dermatomyositis, Systemic juvenile idiopathic arthritis (sJIA), unclassified auto-inflammatory syndrome.Results2148 patients were identified on a 21 year-period, and 135 patients were included. Most patients diagnosed with a systemic pathology (102) suffered from pSLE (53%), followed by dermatomyositis (17%). Average follow up was 8.3 years (0.3 - 25 years), median age at last follow up was 21.2 (14 - 36.7). We found an increase in the number of new diagnoses throughout the years. For pSLE, sex repartition was 4/1 girl/boy and did not vary according to age (p= 0,31). At onset, patients had 10 Sclicc criteria (4-12) and median EULAR/ACR 2019 score was 38 (12 - 54). The combination of typical skin involvement, arthritis and fever was found for 87%. At onset, a third of patients had renal involvement, 15% had Neurolupus and 41% cardiac involvement. All patients had a positive ANA and Anti-DNA antibodies, followed by anti-Ssa/Ssb antibodies (78%), Anti-Sm (78%) and anti RNP (52%). During childhood, 54% had renal involvement and 26% suffered from Neurolupus. Patients suffered in median from 3 flares and 26% suffered from more than 5 flares during childhood. Pre-pubertal patients (26%) had worst outcomes, 93% had renal and / or neurological involvement, they had more flares (median at 5 p = 0,02) and needed an average of 4 background therapies (p = 0,04). Boys seemed to have better disease control at transition to adult care but gender was not an independent predictor of severity during childhood (p = 0,21). 17 patients had dermatomyositis, 29% of them had respiratory involvement during childhood. 33 patients had auto-inflammatory syndromes mostly sJIA (67%), 50% of them had hemophagocytic syndrome during childhood and their disease was controlled by steroids for 64%, 36% needed biotherapy. The overall mortality was 3%.ConclusionThis is a large cohort of patients of Afro-Caribbean origin with a higher frequency of pSLE. Although the outcomes for these patients were similar to western countries, they had loud symptoms at onset, not corelated to delay at diagnosis. Compared to ethnic studies of North America or Africa, the French health care system being universal and free, the bias related to socio-economic status was lower. This work will continue with the exploration by transcriptomic and genetic tests for early and severe forms to identify the extra-environmental causes. The environmental factors specific to these regions should be explored in additional prospective studies.Figure 1.Clinical and biological characteristics of patients with pediatric onset systemic lupus. Orange: clinical signs at onset, Green: immunological profile, Blue: evolutive profile and proportion of organ involvement during childhood. ANA: anti-nuclear antibody.Disclosure of InterestsNone declared

BackgroundTreatment of children with juvenile idiopathic arthritis (JIA) is a major challenge in paediatric rheumatology. The presence of synovitis, which is difficult to detect in children, is associated with structural damage. Musculoskeletal ultrasonography (MSUS) can be used in JIA patients to reveal subclinical synovitis.ObjectivesOur aim was to determine if the use of MSUS is associated with therapeutic modifications in JIA. Secondary outcomes were to identify other factors associated with therapeutic modifications.MethodsWe conducted an observational study based on the JIRECHO multicentre cohort which was developed to provide a systematic MSUS follow-up for JIA patients. Follow-up occurred every six months and included clinical and US examinations. We included children who underwent MSUS of the elbows, wrists, second metacarpophalangeal joints, knees and ankles. Synovitis in US was defined by the presence of joint effusion and/or synovial hypertrophy in B-mode (≥ grade 1) associated or not with Doppler signals (≥ grade 1). US was performed by expert sonographers with good experience in the field of JIA who previously participated in the study of the reliability of the OMERACT paediatric US synovitis definitions and scoring system in JIA (1). Clinical and biological data, disease activity score and information on therapeutics were collected.ResultsWe included 112 patients with 185 visits in total. Three groups of patients were defined according to their therapeutic status: increased(22%), decreased(14%) or stable(64%) treatment. First, we compared patients with treatment escalation with the other patients. Patients with “increased treatment” had more synovitis in B-mode US than the other patients (80% vs. 65%, p=0.06). There was no difference for the presence of synovitis in Power Doppler (PD) US (30% vs 23%, p=0.4). Patient’s and physician’s visual analogue scale (VAS) scores were significantly higher in patients with therapeutic escalation [3.3 vs 1.7, pWe performed ROC curves analysis that showed that the sensitivity and specificity of the US in B-mode was similar to the physician’s VAS, disease score activity or inflammatory biological markers (Figure 1).Figure 1.ROC curves for clinical and biological items and US in B-mode in patients with « therapeutic escalation »ConclusionIn our study, MSUS of ten joints was not statistically associated with treatment escalation or de-escalation in B-mode and PD in patients with JIA.References[1]Rossi-Semerano, L. et al. Application of the OMERACT synovitis ultrasound scoring system in juvenile idiopathic arthritis: a multicenter reliability exercise. Rheumatol. Oxf. Engl. (2020) doi:10.1093/rheumatology/keaa804.Disclosure of InterestsNone declared

Le cause delle febbri prolungate del bambino variano in funzione dell’eta. Le infezioni rappresentano la causa piu frequente, specialmente nel neonato. Le malattie infiammatorie occupano il secondo posto e sono piu frequenti nel bambino piu grande. La valutazione clinica completa e ripetuta e essenziale e permette, nella maggior parte dei casi, un orientamento eziologico.

Las causas de la fiebre prolongada del nino varian en funcion de la edad. Las infecciones representan la causa mas frecuente, sobre todo en el lactante. Las enfermedades inflamatorias ocupan el segundo lugar y son mas frecuentes en el nino mayor. La valoracion clinica completa y reiterada es fundamental y ofrece una orientacion etiologica en la mayoria de los casos.

GACI (generalized arterial calcification of infancy) is a rare autosomal recessive disorder characterized by arterial and periarticular calcifications. Most children die in the first months of life of cardiovascular complications. Hypophosphatemic rickets (HR) resistant to medical treatment may complete the phenotype and is associated with a milder phenotype. This report discusses the case of a girl who presented neonatal ectopic periarticular calcifications with spontaneous regression, and then at the age of 3 years developed HR. There was no clinical improvement after treatment with calcitriol and phosphate, and correction of alkaline phosphatase induced the recurrence of periarticular and tissular calcifications : the treatment was reduced and the bone distortion treated by surgery. GACI diagnosis was confirmed by genetic analysis. At the age of 4.5 years, she developed a retinal abnormality and decreased radial pulse: these clinical signs are usually observed in pseudoxanthoma elasticum (PXE). It is now established that GACI and PXE belong to the same entity characterized by arterial and tissular calcifications of which this original case report is an illustration.

Las enfermedades del tejido conjuntivo y las afecciones relacionadas infantiles son trastornos raros y a menudo graves, que requieren un tratamiento especializado. El lupus eritematoso sistemico (LES) es el mas frecuente de ellos y afecta sobre todo a adolescentes. El LES pediatrico se caracteriza por una mayor gravedad que su forma adulta, sobre todo por la frecuencia de la afectacion renal, que se debe detectar sistematicamente y con regularidad. Su tratamiento se basa en la educacion terapeutica, el tratamiento farmacologico adaptado a la gravedad de las manifestaciones clinicas y la prevencion de las complicaciones (osteoporosis, aterosclerosis, retraso del crecimiento, infecciones). El tratamiento de las afecciones graves se basa en una corticoterapia en dosis altas, asociado en la mayoria de los casos a un inmunosupresor. La dermatomiositis consta de la asociacion de una afectacion cutanea caracteristica y de una afectacion muscular proximal. Evoluciona a la cronicidad en mas de la mitad de los casos y provoca secuelas a largo plazo, sobre todo musculares, cutaneas, articulares, digestivas, pulmonares, oculares, y endocrinas en alrededor de dos tercios de los pacientes. Su tratamiento se basa en una corticoterapia prolongada, inicialmente en dosis altas. La utilidad de la asociacion sistematica con metotrexato o ciclosporina se precisara en los proximos anos cuando se obtengan los resultados de un ensayo aleatorizado.

To develop French recommendations about the management of vaccinations, the screening of cervical cancer and the prevention of pneumocystis pneumonia in systemic lupus erythematosus (SLE).Thirty-seven experts qualified in internal medicine, rheumatology, dermatology, nephrology and pediatrics have selected recommendations from a list of proposition based on available data from the literature. For each recommendation, the level of evidence and the level of agreement among the experts were specified.Inactivated vaccines do not cause significant harm in SLE patients. Experts recommend that lupus patient should receive vaccinations accordingly to the recommendations and the schedules for the general public. Pneumococcal vaccination is recommended for all SLE patients. Influenza vaccination is recommended for immunosuppressed SLE patients. Live attenuated vaccines should be avoided in immunosuppressed patients. Yet, recent works suggest that they can be considered in mildly immunosuppressed patients. Experts have recommended a cervical cytology every year for immunosuppressed patients. No consensus was obtained for the prevention of pneumocystis pneumonia.These recommendations can be expected to improve clinical practice uniformity and, in the longer term, to optimize the management of SLE patients.

Resume Les differentes formes de maltraitance comportent les violences physiques, les abus sexuels, la cruaute mentale et les negligences lourdes. Le risque de deces est particulierement eleve chez les nourrissons et les jeunes enfants, qui sont les plus touches par la maltraitance physique. En cas de risque immediat pour l'enfant, un signalement judiciaire au Procureur de la Republique doit etre effectue.

To document more fully the characteristics of chronic recurrent multifocal osteomyelitis (CRMO) in pediatric patients, to collect data on the outcomes and management of the disease, and to define prognostic factors.One hundred seventy-eight patients were included (123 female patients and 55 male patients), with a mean ± SD age at diagnosis of 10.9 ± 2.9 years. Inclusion criteria were a diagnosis of CRMO, evidence of at least one lesion of osteitis confirmed by imaging, and development of the syndrome before age 18 years.Longitudinal clinical and imaging studies revealed that only 12 of 178 CRMO patients (7%) had unifocal lesions at the last medical visit. We were able to apply the clinical chronic nonbacterial osteomyelitis score to 110 of 178 patients (62%), which indicated that bone biopsy could have been avoided in 27 cases (25%). At the last medical visit, disease was in remission in only 73 of 171 patients (43%) (41% receiving therapy) after a mean ± SD of 47.9 ± 38.9 months; 44 of 171 patients (26%) experienced sequelae. Using cluster analysis, the CRMO cohort was separated into 3 homogeneous phenotypes (severe, mild, and intermediate). Patients with the severe phenotype had the worst prognosis. This group was entirely composed of male patients, most of whom had the multifocal form of CRMO and inflammatory syndrome. Patients with the mild phenotype had the best prognosis. This group was primarily composed of female patients with a unifocal form of CRMO and infrequent clavicle involvement and inflammatory syndrome. Patients with the intermediate phenotype had a good prognosis but greater reliance on treatment. This group primarily included female patients with multifocal lesions and inflammatory syndrome.This is the largest CRMO cohort described in the literature to date. Clinical evolution and imaging investigations confirmed the multifocal pattern of the disease. Three distinct subgroups of CRMO patients were distinguished, with very different prognoses.

Causes of prolonged fever in children vary according to age. Infections are more frequent in young children than in older patients. Careful history and physical examinations are mandatory and are helpful for the diagnosis procedure in most of the cases.

Resume Les anemies hemolytiques auto-immunes a immunoglobulines (Ig) A sont exceptionnelles. Observation. – Nous rapportons le cas d’un nourrisson de dix mois ayant une anemie hemolytique auto-immune grave ou le seul auto-anticorps retrouve etait de type IgA. L’evolution a ete favorable sous corticotherapie a forte dose associee initialement a un support transfusionnel massif. Conclusion. – Des auto-anticorps de type IgA doivent etre recherches avec des anticorps monospecifiques en cas de forte suspicion d’anemie hemolytique auto-immune avec un test de Coombs direct negatif pour les IgG et le complement. L’evolution est le plus souvent favorable sous corticotherapie a forte dose.

There are three different aspects in the etiological diagnosis of hemostasis disorders: (1) primary hemostasis evaluation; (2) coagulation evaluation; and, (3) thrombosis evaluation. In every case, a look at the medical history is an essential step before proceeding to biological investigations. Bleeding time is the first step of the primary hemostasis evaluation; prolonged drug use (particularly salicylates) and thrombocytopenia must be first considered; only then will the Von Willebrand factor and platelet functions be studied. Coagulation evaluation first requires the study of the overall coagulation tests (Quicks test, partial thromboplastin time test and thrombin time test); determination of the different plasma coagulation factors and search for a circulating anticoagulant will be performed secondarily, allowing differentiation between the different acquired or constitutional coagulation disorders. Thrombosis evaluation must first consider a local or general inciting factor before looking for anti-phospholipid antibodies, an acquired protein C or S deficiency or a constitutional hemostasis disorder.

We reviewed the peripheral blood and bone marrow smears of 81 children with myelodysplastic syndrome (MDS). The morphological FAB classification was applicable in 59 children (72,8%): RAEB and RAEBt were the most frequent, 32 cases (39,5%). CMML was observed in 15 cases (18,5%) and in 25% of them, serological evidence for a recent EBV infection was demonstrated. In 22 cases (27,2%), the FAB classification was not convenient. In some of these children, dysmyelopoiesis was associated with constitutional disorders. Among these various inherited conditions, Down syndrome in which myelodysplasia is the expression of an abnormal clonal hematopoiesis, and mitochondrial cytopathies in which MDS is the hematological expression of a polyclonal multi-organ disease. The FAB classification does not appear to be satisfactory for all the disorders included in the group of childhood MDS and should be modified for specific use in children.

GACI (generalized arterial calcification of infancy) is a rare autosomal recessive disorder characterized by arterial and periarticular calcifications. Most children die in the first months of life of cardiovascular complications. Hypophosphatemic rickets (HR) resistant to medical treatment may complete the phenotype and is associated with a milder phenotype. This report discusses the case of a girl who presented neonatal ectopic periarticular calcifications with spontaneous regression, and then at the age of 3 years developed HR. There was no clinical improvement after treatment with calcitriol and phosphate, and correction of alkaline phosphatase induced the recurrence of periarticular and tissular calcifications : the treatment was reduced and the bone distortion treated by surgery. GACI diagnosis was confirmed by genetic analysis. At the age of 4.5 years, she developed a retinal abnormality and decreased radial pulse: these clinical signs are usually observed in pseudoxanthoma elasticum (PXE). It is now established that GACI and PXE belong to the same entity characterized by arterial and tissular calcifications of which this original case report is an illustration.

Systemic lupus erythematosus (SLE) results from the complex interaction between genetic and environmental factors. It is usually thought that SLE results from the combined effect of variants in a large number of genes, and several genome whole association studies (GWAS) have identified a great number of single-nucleotide polymorphisms (SNP) associated with SLE. However, the loci identified so far can account for only about 15% of the heritability of SLE. Recently, some Mendelian variants of lupus have been identified, especially in childhood-onset SLE. Children present with more severe illness, a lower sex-ratio female:male and a higher genetic contribution compared to adults with SLE. pSLE phenotype heterogeneity could be related to genetic heterogeneity, and pSLE in part might consist in a collection of rare, genetically distinct monogenic disorders.

Myelodysplastic syndromes (MDS) in children constitute a heterogeneous disorder, including "primary" MDS and MDS associated with constitutional disorders or metabolic diseases. The Franco-American-British (FAB) cytological classification for adults can be applied for childhood in 50 to 100% of the cases. The transformation into acute myeloblastic leukemia often occurs, but stabilisation or spontaneous regression of the disease may also be observed. Allogenic bone marrow transplantation is the best curative option when treatment is necessary.

L’introduction des biotherapies en rhumatologie pediatrique a suivi de peu d’annees les 1ers essais dans la polyarthrite rhumatoide de l’adulte. Ainsi, le recepteur soluble du TNF-α, etanercept, a ete introduit en pediatrie depuis une douzaine d’annees aux etats-Unis (1) et une dizaine d’annees en Europe (2, 3). De maniere encore plus remarquable, le canakinumab, l’anticorps monoclonal anti-IL-1, a fait l’objet d’etudes cliniques de maniere concomitante chez l’adulte et l’enfant. L’effi cacite et la bonne tolerance de ce traitement dans des maladies rares a debut pediatrique que sont le syndrome de Muckle-Wells (4) et la forme systemique d’arthrite juvenile idiopathique (FS-AJI) (ou maladie de Still pediatrique) a encourage des essais plus recents dans des maladies de l’adulte aussi frequentes que le diabete de type 2.

Resume Les hyperplaquettoses (synonymes: thrombocytoses, thrombocytemies) de l'enfant semblent frequentes. La frequence reelle ne peut etre estimee que depuis quelques annees, depuis l'introduction systematique des comptes de plaquettes par les compteurs automatiques d'hemogramme. Alors que chez l'adulte les hyperplaquettoses sont le plus souvent primitives (thrombocytemie essentielle), entrant dans le cadre des syndromes myeloproliferatifs, elles sont dans la grande majorite des cas secondaires et de tres bon pronostic chez l'enfant. Leur decouverte impose une enquete etiologique mais ne necessite le plus souvent aucun traitement.

Introduction Les myopathies inflammatoires de l’enfant sont un groupe tres heterogene de pathologies tant sur le plan clinique que anatomopathologique ou biologique. L’objectif de ce travail est de colliger des cas pediatriques de myosite de chevauchement afin d’ameliorer leur description et leur classification. Materiel et methodes Etude retrospective de patients suivis a l’hopital Necker-Enfants–Malades de 2002 a 2014, porteurs de myosite de chevauchement definie par l’association d’une myosite inflammatoire et de signe cliniques et/ou biologiques de connectivite. Sont repris la presentation clinique, les elements biologiques, histologiques (biopsies musculaires) et radiologiques (IRM) au diagnostic, les prises en charge therapeutiques et l’evolution. Resultats Vingt patients ont ete inclus, 3 garcons et 17 filles, d’âge median de 9 ans 5 mois [3 ans 9 mois–14 ans 1 mois]. Au diagnostic une myosite est presente chez tous les patients associee a une polyarthrite (n = 7), un syndrome de Raynaud (n = 4), une dyskinesie œsophagienne (n = 2), une atteinte pulmonaire definie par un syndrome interstitiel a l’imagerie ou DLCO Discussion Ce travail constitue la premiere etude de myosites de chevauchement a debut pediatrique. Quatre patients sur 20 ne repondent pas aux criteres classiques proposes par Troyanov pour les formes adultes mais leur presentation et evolution sont marquees par l’association d’une myosite inflammatoire et de signes caracteristiques de connectivites signant le chevauchement. Conclusion Les myosites de chevauchement a debut pediatrique forment un groupe d’affections heterogenes et distinctes des formes classiquement decrites chez l’adulte.

A guideline group of pediatric rheumatologist experts elaborated guidelines related to the management of idiopathic juvenile arthritis in association with the Haute Autorité de santé (HAS). A systematic search of the literature published between 1998 and August 2008 and indexed in Pubmed was undertaken. Here, we present the guidelines for diagnosis and treatment in oligoarticular and polyarticular juvenile idiopathic arthritis (except for spondylarthropathy and rheumatoid arthritis).

Immunosuppressants, including methotrexate and more recently anti-TNF alpha, anti-IL1 and anti-IL6 receptor, have modified the prognosis of juvenile idiopathic arthritis. Growth hormone was shown to limit growth retardation due to general corticotherapy.

Infantile-Onset Panniculitis with Systemic Granulomatosis is a recently described clinicopathologic entity, considered part of the spectrum of pediatric granulomatous inflammatory diseases. Through the International Registry of Pediatric Granulomatous Arthritis (PGA), we now identified 5 children with this disorder, all manifesting from very young age panniculitis, fever, hepatosplenomegaly, arthritis, uveitis and acute phase response. Underlying infections, immune deficiency and autoimmune disease, were excluded. No CARD15 or CIAS1 mutations were found. Histologically, the subcutaneous nodules showed a non-vasculitic non-cytophagic lobular panniculits. Giant and epitheloid cell granulomas were found in liver (pt 1, 5), synovium (pt 2), lymph node (pt 3, 5), colon (pt 3), subcutaneous fat (pt 3), dermis and lung (pt 4). Immunohistochemical study of the granulomas revealed the presence of abundant CD68+ macrophages, numerous CD4+ T lymphocytes and few CD8+ cells. TNF stainings were only weakly positive, conversely abundant IL-6 staining was apparent, especially in the corona of lymphocytes. Despite steroid and cyclosporin treatment, the course was progressive in patient 1 with severe lung involvement and death from respiratory insufficiency at age 14. In patients 2, 3, 4 and 5, therapy with anti-TNF MoAbs allowed better disease control. Infantile onset Panniculitis with Systemic Granulomatosis may be a potentially fatal granulomatous disease in children. Although the response to anti-TNF MoAbs in four of our patients is of note, the paucity of TNF with overwhelming presence of IL-6 in situ in granulomas suggest the implication of alternative immune-inflammatory pathways. The role of the Th17 pthway is currently under investigation

Retroperitoneal fibrosis (RF) is a rare disease in children. We report the case of a 15-year-old boy who presented with a 2-month history of dorsal pain and a 2-week history of fever. The erythrocyte sedimentation rate and serum C-reactive protein value were high. Magnetic resonance imaging revealed a large heterogeneous retroperitoneal mass, suggestive of RF. Percutaneous biopsy of inguinal lymph node provided the diagnosis of anaplastic large cell lymphoma. This is the first report of RF revealing malignancy in childhood. It emphasizes that malignancy must be carefully searched for in children with unexplained RF.

Hereditary spherocytosis (HS) is the commonest inherited disorder of the erythrocyte membrane in Northern Europe and North America. It is marked by a regenerative anemia which varies widely from asymptomatic patients to severe hemolysis. In 75% of HS patients, inheritance is autosomal dominant. The diagnosis of HS is easily made when there are a family history, hemolytic anemia, reticulocytosis, spherocytes and increased hyperdense cells. Specialized testing to clarify the nature of membrane disorder is required when the film appearance is atypical without a positive family history, in the absence of a family history, in the newborn and before the splenectomy, to rule out the stomatocytosis which is contraindicated. The indication for splenectomy is dependent on the degree of anemia and its clinical manifestation.

Background The prevalence of autoimmunity in 22q11.2 deletion syndrome (chr22q11DS) is 8.5%. Objectives However, there is a lack of clinical description in the literature. Methods From a French retrospective study, we have collected the data of autoimmunity in patients with chr22q11DS. For each patient: initial presentation, treatment, outcome, antibodies and lymphocyte subset analyses have been collected. Results Fifteen cases were selected. The age at onset of autoimmunity ranged from 1 to 14 years old (median 4 years), most children had several autoimmune manifestations (median 2). Seven patients had autoimmune cytopenias (7 thrombopenias, 5 anemias, 3 neutropenias) and among them, 2 children also had autoimmune hepatitis. Five juvenile idiopathic arthritis were observed: 3 severe polyarthritis rheumatoid factor negative, 1 spondylarthropathy with uveitis and 1 oligoarthritis. 3 children developed mere joint inflammatory pain associated with good response to NSAIDs. Additionally, one celiac disease was diagnosed associated with B+ polyclonal lymphoproliferative disease. One child had autoimmune thyroiditis. A teenager presented acute focal neurological symptoms with hyperintensities of the brain white matter at MRI and positive anti-nuclear and anti-histones antibodies. A Churg-Strauss syndrome was considered, facing severe asthma, nasal polyps, corticosteroid dependence and fever, but ANCA were negative. All patients received several treatments (median 2) and currently, after a median follow-up of 10 years, 10 patients are in complete remission (5 without any treatment and 5 with immunosuppressants), 3 are in partial remission, 1 pancytopenia and 1 polyarthritis are not controlled. The age at chr22q11DS diagnosis ranged from the neonatal period to 16 years (median 7 years). In 8 cases chr22q11DS was diagnosed after the beginning of autoimmunity with a delay from 1 to 11 years (median 7 years). Lymphocyte subset analyses have shown lymphopenia, with a reduction of naive T-cell count. Conclusions Chr22q11DS, similar to other primary immunodeficiencies, must be considered facing atypical autoimmunity, even though clinical dysmorphic features are mild. The diagnosis is easily confirmed by fluorescence in situ hybridization study. Naive T-cell lymphopenia may predispose to a high risk of autoimmunity. Disclosure of Interest None declared

Evans' Syndrome (ES) is defined as the combination of immune thrombocytopenia (ITP) and autoimmune haemolytic anemia (AIHA), in the absence of any known underlying etiology. Pathophysiology, epidemiology and outcome remain unclear.Thirty-six children (20 male, 16 female), who were diagnosed in the SHIP french centres (Société d'hématologie et d'immunologie pédiatrique) between 1990 and 2002 with ES, were included in this retrospective study.Median age at diagnosis was 4 years. In 21 children, ES occurred in the setting of consanguinity, family history of autoimmune/inflammatory disease, associated autoimmune disorder or immunoregulatory abnormalities (serum imunoglobulins, peripheral blood lymphocytes subsets, low level of the C3-C4 complement components, nuclear antibodies). Several successive treatments were used in this serie (median: 3, range: 0-10) including corticosteroid therapy (35/36), intravenous immunoglobulins (32/36), immunosuppressive agents (14/36), splenectomy (9/36) and anti CD 20 monoclonal antibodies (6/36). Patients with a low level of serum immunoglobulins were more often non-responders to corticosteroidtherapy/intravenous immunoglobulins and required more frequently further therapy (P=0.03). Three patients died (intracranial bleeding, N=2, Guillain-Barre syndrome; N=1).ES was a severe, life-threatening disease, requiring aggressive immunosuppressive therapy in as many as half the patients. Our forthcoming study aims to (i) describe homogeneously-studied and prospectively-analysed cohort of childhood ES, (ii) separate ES from specific immune deficiency (especially fas gene mutations), generalised autoimmune/inflammatory disorders and genetic diseases, (iii) identify well-defined ES subsets, (iv) establish prognostic factors and optimal treatment within these subsets.

Childhood-onset systemic lupus erythematosus (SLE) is often severe and has a serious long-term morbidity. Pediatric guidelines about its management do not exist. The French study group of childhood-onset SLE proposes recommendations about the investigation which are needed at diagnosis and during follow-up of SLE, in order to adjust the treatment according to the severity of the disease and to avoid unnecessary investigations.

Thrombotic events are often diagnosed with a delay that may be responsible for definite post-thrombotic syndrome.We report two cases, which emphasize the difficulty of the diagnosis of venous thrombosis in two boys, at age 11 and 12 respectively. The occurrence of a leg pain led to a misdiagnosis of arthritis of hip in both cases.Venous thrombosis must be searched for in children with unexplained persistent pain in leg. Precocious anticoagulation is essential for preventing post-thrombotic syndrome.

Systemic Lupus Erythematosus (SLE) remains a challenging autoimmune disease in term of etiology, pathogenesis and treatment. It is estimated that 10-17% of lupus patients present before the age of 16. SLE in children appears to have more severe organ involvement than in adults. The outcome of childhood SLE has improved during the last decade, but the morbidity remains high.