[Marshall syndrome]. / Syndrome de Marshall.

MARSHALL SYNDROME. Marshall syndrome also known as PFAPA syndrome belongs to the group of autoinflammatory diseases. The acronym reflects the main clinical features of the disease: periodic fever, aphthous stomatitis, pharyngitis, and adenitis. It is the most common autoinflammatory disease, beginning between 1 and 5 years of age. There is little or no impact on growth, but the recurrence of febrile seizures can compromise the quality of life of patients. Clinical diagnosis meets positive and exclusion criteria. Putting it correctly allows a reassuring framework of care and avoids many unnecessary antibiotic treatments. Corticosteroid therapy is the reference treatment for the crisis. Tonsillectomy associated with adenoidectomy can be discussed but is not systematically recommended in this pathology, which is generally benign and most often heals spontaneously with age.

SYNDROME DE MARSHALL. Le syndrome de Marshall, aussi connu sous le nom de syndrome PFAPA, appartient au groupe des maladies auto-inflammatoires. L'acronyme reflète les principales caractéristiques cliniques de la maladie : fièvre périodique, aphtes, pharyngite, adénite. Il s'agit de la maladie auto-inflammatoire la plus fréquente, débutant entre 1 et 5 ans. Il n'y a pas ou peu de retentissement sur la croissance, mais la récurrence des accès fébriles peut obérer la qualité de vie des patients. Le diagnostic clinique répond à des critères positifs et d'exclusion. Bien poser celui-ci permet de poser un cadre de prise en charge rassurant pour l'entourage et d'éviter de nombreux traitements antibiotiques inutiles. La corticothérapie est le traitement de référence de la crise. L'amygdalectomie associée à l'adénoïdectomie peut être discutée mais n'est pas recommandée de façon systématique dans cette pathologie en général bénigne et guérissant le plus souvent spontanément avec l'âge.

Immunomodulatory treatment and surgical management of idiopathic uveitis and juvenile idiopathic arthritis-associated uveitis in children: a French survey practice.

BACKGROUND: Surgeries for idiopathic uveitis and juvenile idiopathic arthritis-associated uveitis in children are complex because of the high risk of inflammatory postoperative complications. There is no consensus about treatment adaptation during the perioperative period. The objectives of this study are to report the therapeutic changes made in France and to determine whether maintaining or stopping immunosuppressive therapies is associated with an increased risk of surgical site infection or an increased risk of uveitis or arthritis flare-up. METHODS: We conducted a retrospective cohort study between January 1, 2006 and December 31, 2018 in six large University Hospitals in France. Inclusion criteria were chronic idiopathic uveitis or chronic uveitis associated with juvenile idiopathic arthritis under immunosuppressive therapies at the time of the surgical procedure, operated before the age of 16. Data on perioperative treatments, inflammatory relapses and post-operative infections were collected. RESULTS: A total of 76 surgeries (42% cataract surgeries, 30% glaucoma surgeries and 16% posterior capsule opacification surgeries) were performed on 37 children. Adaptation protocols were different in the six hospitals. Immunosuppressive therapies were discontinued in five cases (7%) before surgery. All the children in the discontinuation group had an inflammatory relapse within 3 months after surgery compared to only 25% in the other group. There were no postoperative infections. CONCLUSIONS: The results of this study show varying practices between centres. The benefit-risk balance seems to favour maintaining immunosuppressive therapies during surgery. Further studies are needed to determine the optimal perioperative treatments required to limit post-operative inflammatory relapses.

Initial clinical presentation of young children with N-methyl-d-aspartate receptor encephalitis.

Autoimmune encephalitis with anti-N-methyl-d-aspartate receptor autoantibodies (NMDA-R-Abs) is a recently described disease affecting adult and pediatric patients. Symptoms of the disease are now perfectly described in the adult population but the clinical presentation is less known in young children. The aim of the present study was to describe the clinical presentation and the specificities of symptoms presented by young children with NMDA-R-Abs encephalitis to improve diagnosis of this disease, and to compare these to a series of previously published female adult patients. Fifty cases of children younger than twelve years of age diagnosed with NMDA-R-Abs encephalitis between January 1, 2007 and December 31, 2016 (27 females and 23 males) were retrospectively studied. The first neurological symptoms observed in young children with NMDA-R-Abs encephalitis were characterized by seizure (72%), especially focal seizure (42%), within a median of 15 days before other encephalitis symptoms; other patients mostly had behavioral disorders (26%). The seizures were frequently difficult to diagnose because of the transient unilateral dystonic or tonic posturing presentation or sudden unilateral pain in the absence of clonic movements. A post-ictal motor deficit was also frequently observed. This clinical presentation is different from that observed in adult females with NMDA-R-Abs encephalitis who initially present mainly psychiatric disorders (67%) or cognitive impairment (19%), and less frequently seizures (14%). The diagnosis of NMDA-R-Abs encephalitis should be systematically considered in young children of both sexes who present neurological symptoms suggesting recent seizures (focal or generalized) without obvious other etiology.

To Screen or Not to Screen: Reconciling Individual and Population Perspectives on Screening.

Screening is the early detection of a latent disorder by a test to allow early intervention with the aim of improving prognosis. Individual and population perspectives on screening are perceived as opposing interests of patients and the population. In this article, we try to reconcile these perspectives. The individual perspective is based on the clinical experience of a better prognosis at early stages and patients with missed opportunities. In the population perspective, screening is based on a population-oriented, evidence-based model and addresses the acceptability and possible negative effects, including for people without the disorder. Known possible obstacles to a positive effect of screening include a short latent stage, lead time, overdiagnosis, lack of acceptability, poor performance of tests, and misclassification of outcome. Randomized trials of screening are challenging and need an adaptation of standards such as the Consolidated Standards of Reporting Trials (CONSORT). Simulating the effects of screening can allow the consideration of complex screening strategies and other options to help avoid biases related to treatment improvement and prevention success. Reconciling both perspectives is possible by considering that hypotheses underlying the former are prerequisites for the latter. From an evidence-based medicine and policy perspective, we suggest that recommending screening or prescribing a test is unethical if all possible obstacles are not documented by providing the best available evidence.

Is early detection of abused children possible?: a systematic review of the diagnostic accuracy of the identification of abused children.

BACKGROUND: Early detection of abused children could help decrease mortality and morbidity related to this major public health problem. Several authors have proposed tools to screen for child maltreatment. The aim of this systematic review was to examine the evidence on accuracy of tools proposed to identify abused children before their death and assess if any were adapted to screening. METHODS: We searched in PUBMED, PsycINFO, SCOPUS, FRANCIS and PASCAL for studies estimating diagnostic accuracy of tools identifying neglect, or physical, psychological or sexual abuse of children, published in English or French from 1961 to April 2012. We extracted selected information about study design, patient populations, assessment methods, and the accuracy parameters. Study quality was assessed using QUADAS criteria. RESULTS: A total of 2 280 articles were identified. Thirteen studies were selected, of which seven dealt with physical abuse, four with sexual abuse, one with emotional abuse, and one with any abuse and physical neglect. Study quality was low, even when not considering the lack of gold standard for detection of abused children. In 11 studies, instruments identified abused children only when they had clinical symptoms. Sensitivity of tests varied between 0.26 (95% confidence interval [0.17-0.36]) and 0.97 [0.84-1], and specificity between 0.51 [0.39-0.63] and 1 [0.95-1]. The sensitivity was greater than 90% only for three tests: the absence of scalp swelling to identify children victims of inflicted head injury; a decision tool to identify physically-abused children among those hospitalized in a Pediatric Intensive Care Unit; and a parental interview integrating twelve child symptoms to identify sexually-abused children. When the sensitivity was high, the specificity was always smaller than 90%. CONCLUSIONS: In 2012, there is low-quality evidence on the accuracy of instruments for identifying abused children. Identified tools were not adapted to screening because of low sensitivity and late identification of abused children when they have already serious consequences of maltreatment. Development of valid screening instruments is a pre-requisite before considering screening programs.