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Background: There are currently three known congenital disaccharidase deficiencies: congenital lactase deficiency (CLD), congenital sucrase-isomaltase deficiency (CSD), and congenital trehalase deficiency (CTD). No congenital deficiency has been described for maltase-glucoamylase (MGAM).Methods: A literature search was performed in PubMed for the pathogenic variants CLD, CSD, and CTD and the articles retrieved were analyzed to estimate the prevalence of congenital disaccharidase deficiencies.Results: Based on reported variants, the estimated prevalence was 1.3 per 106 births (95% CI: 1.1–1.7) for CLD, and 31.4 per 106 births (95% CI: 28.3–34.8) for CSD. Using data on previously reported variants and variants predicted to be loss-of-function in gnomAD, the overall estimated prevalence was 2.3 per 106 births (95% CI: 1.9–2.9) for CLD, 57.6 per 106 births (95% CI:52.5–63.2) for CSD, and 9.2 per 106 births (95% CI: 2.5–3.7) for CTD.Conclusion: The prevalence of CSD was found to be relatively high, while for other congenital disaccharidase deficiencies, the estimated prevalence was very low.

Place: France; This literature review focuses on the neonatal context. It provides an update of knowledge on the psychosocial consequences and communication needs expressed by parents. It highlights the obstacles to communication and proposes lines of thought for the development of new training systems to improve the communication practices of caregivers. OBJECTIVE: This review aims to assess and categorize the specific needs and expectations of families in terms of communication within the neonatal intensive care unit (NICU). METHODS: A bibliographic search was carried out on the Web of Sciences, PubMed and PsycArticles databases with the following keywords: "neonat* AND new* AND communication AND parent*". RESULTS: In total, 16 papers were selected showing that information and communication are particular needs for parents in NICUs. They are confronted with a stressful situation and have to deal with the fear and anticipation of the situation in a context of uncertainty. Parents are satisfied with the caregiver-parent relationship when the type of communication is adapted to the context and to their changing needs. Conversely, they feel excluded when they cannot be involved as they would like to be in the care or in the decision-making process. CONCLUSION: The development of new communication training methods and tools such as simulation would allow healthcare workers to acquire new communication skills focused on the needs of families.

International audience; Background: COVID-19 triggered an unprecedented crisis affecting society at every level. Research in pediatric and congenital cardiology is currently in full development and may have been disrupted. The aim of the study was to determine the impact of COVID-19 on pediatric and congenital cardiology clinical research and to analyze decision-making and adaptation processes, from a panel of ongoing academic and industry-sponsored research at the time of the pandemic.Methods: This observational study was carried out in April 2020, from a CHD clinical research network involving five tertiary care pediatric and congenital cardiology centers. Investigators and clinical research assistants from each participating research center completed an online survey questionnaire, and each principal investigator underwent a 1-h web-based videoconference interview.Results: A total of 34 study questionnaires were collected, reporting that 18 studies were totally suspended. Upon the investigator's decision, after discussion on ethical issues and with facilitating support from health authorities, 16 studies were resumed. The rate of study suspension in interventional research (53%) was similar to that in non-interventional research (56%). Logistical problems were predominantly reported in both continued and suspended trials. Research protocols were adapted, largely thanks to telemedicine, which in some cases even improved the course of the study.Conclusion: The impact of the COVID-19 pandemic on clinical research in pediatric and congenital cardiology has been limited by a rapid adaptation of all research structures and an extensive use of telemedicine at all stages of the studies.

International audience; Background: : The aim of this retrospective study is to explore the prognostic value of different contrast enhancement imaging patterns in childhood Guillain–Barré syndrome by comparing the clinical, laboratory, and therapeutic outcomes.Methods: : We included a total of 37 patients who were diagnosed and followed up by a pediatric neurology team at Montpellier University Hospital between 2000 and 2016. All images were reinterpreted by the first author and a senior pediatric neuroradiology staff member in two different sessions; in the case of disagreement, the expert's reading was considered.Results: : The study group comprised 22 (59.5%) boys and 15 (40.5%) girls. The age ranged from 1.5 year to 14.8 years. Muscle weakness was present in 33 (89.2%) patients. Cranial nerves involvement was observed in 22 (59.5%) patients, while 29 (78.4%) patients had albuminocytological dissociation. In 27 (73%) patients, contrast enhancement or thickening of the lumbosacral nerve roots was found. Simultaneous spinal nerve root and cranial nerve enhancement was noted in five (17.2%) patients, while isolated cranial nerve enhancement was identified in three (10.3%) patients. Clinical and radiological cranial nerve involvement was found in seven (18.9%) patients, while isolated clinical cranial nerves involvement occurred in 13 (35.1%) patients. No significant correlation between different magnetic resonance imaging (MRI) enhancement patterns and short-term or long-term outcomes was found in our cohort.Conclusion: : Contrast-enhanced brain and spinal MRI is a sensitive and recommended supportive test for diagnosing acute inflammatory polyradiculopathy in children. Its predictive value for clinical, and therapeutic outcomes in the short or long term has not yet been proved

International audience; Langerhans cell histiocytosis (LCH) is characterized by inflammatory lesions containing abundant CD1a+ CD207+ histiocytes that lead to the destruction of affected tissues. This disease has a remarkable pleiotropic clinical presentation and most commonly affects young children. Although the current mortality rate is very low for childhood LCH patients (

International audience; In patients with congenital heart diseases, new procedures, such as transcatheter valve replacement, have been associated with a non-negligible incidence of infective endocarditis (IE): up to 4% patient-year IE incidence. Prosthetic IE after percutaneous tricuspid valve replacement (PTVR) has been scarcely reported. We report the first pediatric case of IE after percutaneous tricuspid Melody™ valve-in-valve implantation in a boy who was diagnosed with Eisenmenger syndrome, related to patent ductus arteriosus. This first pediatric case of late IE (4 years) after PTVR is added to eight previously reported cases of IE from the valve-in-valve international database registry (VIVID registry).

Cardiac arrhythmia with sudden death is rare in children but mainly due to ventricular tachycardia. In case of pulseless ventricular tachycardia, prehospital treatment is crucial with immediate cardiopulmonary resuscitation and external electrical cardioversion. We report the case of pulseless ventricular tachycardia in a child with no past medical history. Sinus rhythm was obtained after 12 min of cardiorespiratory resuscitation and three external electrical shocks. An exhaustive diagnostic approach allow us to find its origin. The clinical progression was marked by a severe encephalopathy. The authors discuss different etiologies and treatment of arrhythmia in children, reviewing the pediatric algorithm for shockable rhythm.

Resume L’extreme prematurite, definie par une naissance avant 27 semaines d’amenorrhee (SA) en Suede est prise en charge selon les donnees de la litterature les plus recentes, avec un monitorage des resultats grâce a un registre perinatal. Des recommandations nationales ont ete emises en 2013. Elles mettent en avant l’importance des soins centres sur l’enfant et sa famille, la prise en charge de la nutrition, de la douleur, de la persistance du canal arteriel et des lesions cerebrales. Il reste cependant des domaines sans consensus national, concernant par exemple la strategie de support respiratoire. La vision francaise de l’approche suedoise souligne l’attitude pro-active des neonatologistes, la coherence obstetrico-pediatrique avec une collaboration etroite, la presence et la participation active des parents aux soins de leur enfant. Le « minimal handling » implique un monitorage tres technique tout en tenant compte de la sensorialite de l’enfant extreme premature.

International audience; Introduction: Infiltration and extravasation account for 23–78 % of the complications stemming from peripheral venous perfusions in neonatal intensive care units. Their consequences, sometimes dramatic, can be pain, infections, or even loss of skin, which can lead to nerve and/or muscle damage, particularly severe for preterm neonates. Today there are no recommendations on the care of these lesions, which can lead to an erroneous choice or to a delay in the possible treatments.Objective: This review of the literature aims to explore and propose elements of therapeutic care collected in the scientific literature. It focuses on skin lesions due to extravasation of peripheral venous perfusions in neonatal intensive care units.Methods: The PubMed database and the publishers’ platform ScienceDirect were used. The bibliographies of the selected articles were also run. All types of studies examining one or several treatments for the care of postextravasation skin lesions in neonatal intensive care units were included in the search, without any limit on the date, except for case reports. To estimate the quality of the studies, the tool proposed by the French National Authority for Health, which classifies the various types of studies according to their proof level, was used.Results/Discussion: Thirteen publications were analyzed, including four case series, five retrospective studies, and four interventional studies. The vast majority of these studies have been published since 2005. No comparative, controlled, and randomized trials appear in the literature. Chronologically, we observed a growing interest in the premature infant population, in parallel with the increasing number of publications. Among the significant number of treatments proposed, five main categories were identified: topical treatment, surgery, the Gault method, no specific treatment, and others. All the skin lesions of the babies studied healed, without important aftereffects. These publications also show that most of the time a combination of different types of treatment is used depending on the lesions’ progress and doctor's assessment. Few differences are made between term neonates and premature neonates in the choice of treatment. All these types of care can be applied to both populations. In spite of the lack of consensus on the care to be adopted, all the authors emphasize the important role of prevention according to the official regulations.Conclusion: The total absence of studies with a sufficient level of proof does not allow, at this time, the elaboration of guidelines for the care of these lesions. However, the proposals made in the literature seem promising. Therefore, it would be wise to conduct randomized trials on relatively large samples to compare these various types of treatment.; Introduction: Les conséquences d’une extravasation de soluté de perfusion peuvent mener à des atteintes nerveuses ou musculaires parfois dramatiques, notamment chez les nouveau-nés prématurés. À l’heure actuelle, il n’existe pas de recommandations concernant la prise en charge de ces lésions, ce qui peut conduire à un mauvais choix ou à un retard dans les traitements possibles.Objectif: Ce travail avait pour objectif de proposer des éléments de prise en charge collectés dans la littérature scientifique. Il s’est uniquement intéressé aux lésions cutanées en service de réanimation néonatale.Méthodes: La base de données PubMed et la plateforme d’éditeurs ScienceDirect ont été utilisées. Tous les types d’études évaluant un ou plusieurs traitements ont été inclus dans la recherche, sans limite de date, à l’exclusion des cas rapportés isolément.Résultats/Discussion: Treize publications ont été analysées. La majorité avait été publiée à partir de 2005. Aucune étude comparative, contrôlée et randomisée n’était présente dans la littérature. Un intérêt croissant pour la population des bébés prématurés s’est traduit par l’augmentation du nombre de publications. Parmi les traitements proposés, 5 catégories ont été relevées : traitement topique, chirurgie, méthode de Gault, absence de traitement spécifique et autres. La grande majorité des sujets étudiés avaient pu guérir de leurs lésions, sans séquelles importantes.Conclusion: L’absence d’études de niveau de preuve suffisant n’a pas permis l’élaboration de recommandations pour la prise en charge de ces lésions. Toutefois, les propositions semblent prometteuses. Il serait judicieux d’effectuer des essais randomisés sur des échantillons relativement grands afin de comparer ces différents types de traitements.

Bilateral facial nerve palsy is a rare and sometimes difficult diagnosis. We describe a case of bilateral simultaneous facial nerve palsy associated with Epstein-Barr virus (EBV) infection in a 3-year-old boy. Several symptoms led to the diagnosis of EBV infection: the clinical situation (fever, stomachache, and throat infection), white blood cell count (5300/mm3 with 70% lymphocyte count), seroconversion with EBV-specific antibodies, lymphocytic meningitis, and a positive blood EBV polymerase chain reaction (9.3×103 copies of EBV-DNA). An MRI brain scan showed bilateral gadolinium enhancement of the facial nerve. A treatment plan with IV antibiotics (ceftriaxone) and corticosteroids was implemented. Antibiotics were stopped after the diagnosis of Lyme disease was ruled out. The patient's facial weakness improved within a few weeks. Bilateral facial nerve palsy is rare and, unlike unilateral facial palsy, it is idiopathic in only 20% of cases. Therefore, it requires further investigation and examination to search for the underlying etiology. Lyme disease is the first infectious disease that should be considered in children, especially in endemic areas. An antibiotic treatment effective against Borrelia burgdorferi should be set up until the diagnosis is negated or confirmed. Further examination should include a blood test (such as immunologic testing, and serologic testing for viruses and bacterium with neurological tropism), a cerebrospinal fluid test, and an MRI brain scan to exclude any serious or curable underlying etiology. Facial bilateral nerve palsy associated with EBV is rarely described in children. Neurological complications have been reported in 7% of all EBV infections. The facial nerve is the most frequently affected of all cranial nerves. Facial palsy described in EBV infections is bilateral in 35% of all cases. The physiopathology is currently unknown. Prognosis is good most of the time.

The 2005 enactment of the "Patients' rights and end-of-life care" act, known as the Leonetti law, has been accompanied by practical changes in the processes of withdrawal and withholding of active life-sustaining treatments. This law has also promoted the implementation of palliative care in perinatal medicine to avoid unreasonable therapeutic interventions and to preserve the dying patient's quality of life and human dignity. Recently, a new law has been voted by the French National Assembly and new reflections on the ethical aspects of the end of life in neonatal medicine should resume again within the French Society of Neonatology in the working group on ethical issues in neonatology. This is why it appears important to discuss the perceived benefits and the persistent difficulties related to the implementation of the Leonetti law in neonatology. Collegiality in the decision-making processes as well as withdrawal and withholding of life-sustaining treatments that were already present in the practices of many centers has been stipulated within a legal framework and promoted in clinical practice. It has brought serenity within perinatal nursing and medical teams. It has helped them face the always-difficult end-of-life situations with parents and deal with decision-making processes in an intense emotional climate. However, new questions inherent to the law have appeared. The most important ones concern the withholding of artificial nutrition and hydration, the time pressure in the management of the decision-making process, and the management of the duration of palliative care. Challenges remain in addressing various persistent ethical dilemmas such as the possible survival of newborns with significant brain lesions detected after the period of life-sustaining treatments that have allowed their survival. The new law carried by Mr. Clayes and Mr. Leonetti should provide answers to some of these ethical issues, but it would probably not solve all of them.

Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE) is a rare autosomal-recessive syndrome, resulting from mutations in the TYMP gene, located at 22q13. The mutation induces a thymidine phosphorylase (TP) deficit, which leads to a nucleotide pool imbalance and to instability of the mitochondrial DNA. The clinical picture regroups gastrointestinal dysmotility, cachexia, ptosis, ophthalmoplegia, peripheral neuropathy, and asymptomatic leukoencephalopathy. The prognosis is unfavorable. We present the case of a 14-year-old Caucasian female whose symptoms started in early childhood. The diagnosis was suspected after magnetic resonance imaging (MRI), performed given the atypical features of mental anorexia, which revealed white matter abnormalities. She presented chronic vomiting, postprandial abdominal pain, and problems gaining weight accompanied by cachexia. This diagnosis led to establishing proper care, in particular an enteral and parenteral nutrition program. There is no known specific effective treatment, but numerous studies are in progress. In this article, after reviewing the existing studies, we discuss the main diagnostic and therapeutic aspects of the disease. We argue for the necessity of performing a cerebral MRI given the atypical features of a patient with suspected mental anorexia (or when the clinical pattern of a patient with mental anorexia seems atypical), so that MNGIE can be ruled out.

New concentrated laundry pods, available on the European market for approximately 10 years, are associated with more severe intoxications compared to classic laundry detergents. AIM: To compare symptoms and severity after exposure to classic laundry detergents and new laundry pods in a pediatric population. MATERIAL AND METHODS: Retrospective study conducted between 1st January 2002 and 30th June 2013 including all laundry detergent exposure patients admitted to our tertiary level pediatric emergency unit. Collected data were age, sex, date, time and location of exposure, type of product (powder, liquid, tablets, pods), estimated ingested quantity, time of admission, clinical symptoms, severity, complications, and progression. RESULTS: Descriptive analysis: eighty-nine children were included. The mean age was 2.1±1.5 years (range, 36 days to 10 years), 65% of patients were aged less than 2 years. The male:female ratio was 1.5 (males, 60%). After exposure, 57% of children were symptomatic and most frequently developed digestive symptoms (75%). Comparative analysis: compared to classic laundry detergent, children exposed to laundry pods were more symptomatic (96% versus 51%, PCONCLUSION: The declaration to national poison centers of these intoxications should be pursued by emergency pediatricians, physicians, and pediatric intensivists. Family physicians can encourage parents to declare adverse effects to the National Consumer Product Safety Commission. Parents need to be better informed of the risk of laundry pods and strictly keep this type of product out of the reach of children. Given that it took 7 years after the first warning by the French poison centers to obtain safety recommendations for manufacturers, it is important to maintain pressure on companies to obtain the necessary modification of the physicochemical properties and child-resistant packaging. Language: fr

Resume Contexte La ponction lombaire (PL) est classiquement indiquee devant une convulsion febrile (CF) avant l’âge de 18 mois pour eliminer une meningite. Suite a plusieurs etudes recentes, l’American Academy of Pediatrics (AAP) a actualise en 2011 les recommandations de prise en charge des premieres CF simples : le critere d’âge seul n’est plus une indication de PL. L’objectif de ce travail etait d’evaluer si ces nouvelles recommandations peuvent s’appliquer en France. Patients et methodes Etude retrospective monocentrique incluant 157 enfants de moins de 18 mois vus dans un service d’urgences pour une premiere CF entre 2009 et 2010. Resultats Trois meningites bacteriennes et 2 meningo-encephalites virales non herpetiques ont ete diagnostiquees. Le risque etait majore en cas de CF complexe (prolongees, focalisees ou repetees) (14 % versus 0 % en cas de CF simple, p = 0,06) et de signes cliniques evocateurs (trouble de conscience, hypotonie, fontanelle bombee, trouble du comportement, purpura, aspect septique) (36 % contre 0 % en l’absence d’orientation clinique, p Discussion/Conclusion Devant une CF simple sans aucun signe evocateur de meningite ou d’encephalite, la PL n’est pas necessaire, meme avant 18 mois. Elle reste formellement indiquee en presence de signes evocateurs et doit etre discutee en cas de CF complexe, d’antibiotherapie prealable ou de vaccination incomplete.

International audience; Introduction: Human parvovirus B19 (PVB19) causes erythema infectiosum or 5th disease in childhood, which mainly affects children between 3 and 15 years of age. PVB19 infections have also been described in association with a variety of neurologic manifestations including encephalitis.Case report: This 3-year 8-month-old boy developed febrile encephalitis (mental status change with seizures and left limb hypertonia) associated with a rash. The electroencephalographs revealed focal slowing with some spikes in front of the left centro-temporo-occipital areas ; bacteriological and biochemical cerebrospinal fluid (CSF) analysis were normal, brain radiologic studies (tomography and magnetic resonance imaging) were normal. The diagnosis of encephalitis associated with PVB19 primo infection was based on viral DNA detection in the serum and CSF using PCR and on the specific immunoglobulin M (without immunoglobulin G) detection in the serum.Discussion: In France, encephalitis etiology is unknown in 48% of the cases. PVB19 accounts for 4.3% of undiagnosed meningoencephalitis in children. Although there is no specific sign, seizures and rash are reported in about one-half and one-quarter of cases, respectively.Conclusion: Even if PVB19 research is not cited in the French or American infectious disease society recommendations on the diagnosis and management of infectious encephalitis, this virus may be responsible, especially in cases of child febrile rash. Therefore, PVB19 research seems reasonable if the clinical presentation is concordant in children due to its diagnostic simplicity and efficacy.; Introduction: Le parvovirus B19 (PVB19) est l’agent responsable du mégalérythème épidémique ou 5e maladie, qui touche essentiellement l’enfant entre 3 et 15 ans. Même si elles sont rares, des manifestations neurologiques ont été décrites.Cas clinique: Nous rapportons l’observation d’un patient de 3 ans et 8 mois qui avait présenté un tableau clinique d’encéphalite aiguë (troubles de la vigilance, hypertonie du membre supérieur droit, convulsions) dans un contexte d’éruption fébrile. L’électroencéphalogramme objectivait un ralentissement en regard des régions centro-temporo-occipitales gauches ; l’analyse cytobactériologique du liquide céphalorachidien (LCR) et l’imagerie cérébrale étaient normales. La sérologie pour le PVB19 était positive en immunoglobulines (Ig) M sans IgG en phase aiguë et les réactions de polymérisation en chaîne (PCR) spécifiques positives dans le sérum et le LCR avaient fait porter le diagnostic d’encéphalite à PVB19.Discussion: En France, 48 % des encéphalites sont idiopathiques (Mailles et al., 2009). Chez l’enfant, le PVB19 serait responsable de 4,3 % de ces encéphalites sans agent causal identifié (Barah et al., 2001). Il n’y a pas de signe spécifique, néanmoins des convulsions et un rash peuvent être trouvés respectivement dans la moitié et un quart des cas. (Douvoyiannis et al., 2009).Conclusion: Même si la recherche du PVB19 ne figure pas dans les recommandations de prise en charge diagnostique des encéphalites de la Société de pathologie infectieuse de langue française et de la Société nord-américaine de pathologie infectieuse, ce virus peut en être la cause notamment chez le grand enfant qui présente une éruption fébrile. Ainsi, en cas de contexte évocateur, il nous semble raisonnable d’effectuer la recherche du PVB19, agent pathogène « banal » de l’enfant, dont le diagnostic est simple et présente un bon rendement.

Resume Nous rapportons le cas d'une hypercalcemie majeure chez un nourrisson de 4 mois, liee a une intoxication a la vitamine D. Observation Ce garcon âge de 4 mois, d'origine turque, a ete admis pour anorexie, asthenie, hypotonie, constipation et somnolence. L'examen clinique a confirme l'hypotonie majeure, objective une deshydratation intracellulaire moderee et une polyurie avec leucocyturie. Les constantes hemodynamiques etaient normales. Le bilan electrolytique sanguin a mis en evidence une hypercalcemie a 4,28 mmol/l, controlee a 4,55 mmol/l. L'intervalle QT corrige etait court a l'electrocardiogramme (ECG) et egal a 0,34 ms. L'enfant a ete transfere en reanimation devant l'aggravation des signes neurologiques. Une seance d'hemodialyse a ete realisee en raison de l'aggravation clinique, des anomalies de l'ECG et la valeur de la calcemie. Une hyperhydratation, des diuretiques de l'anse a forte dose et des perfusions de pamidronate de sodium ont complete la prise en charge therapeutique. Le bilan etiologique hormonal, radiologique, echographique et cardiologique associe a la reprise de l'interrogatoire parental a permis de conclure a une intoxication a la vitamine D par apports journaliers excessifs sans possibilite de determination exacte de la quantite totale administree. L'evolution a ete compliquee d'une nephrocalcinose sans retentissement fonctionnel renal, d'une thrombose iliaque sur catheter de dialyse, l'evolution neurologique a ete favorable a 3 mois. Commentaires La hantise de survenue d'un rachitisme, notamment dans les familles turques, peut conduire certains parents a administrer des quantites massives de vitamine D, certaines galeniques fortement dosees etant accessibles a l'achat par Internet. Chez un nourrisson presentant des troubles digestifs avec vomissements, constipation, associes a des troubles neurologiques (lethargie, hypotonie) et une hypercalcemie ; une intoxication a la vitamine D sera envisagee en l'absence d'une cause tumorale, hormonale ou malformative (syndrome de Williams-Beuren). L'utilisation de biphosphonates en complement d'une hyperhydratation, de diuretiques de l'anse permet souvent la correction de l'hypercalcemie. La nephrocalcinose n'est pas systematique et est souvent associee a une intoxication chronique, les troubles cardiovasculaires sont plus frequents lors d'intoxication a dose massive sur des durees courtes, les troubles du rythme graves sont rares chez l'enfant dans ce contexte.

Resume Le syndrome d'Ehlers-Danlos (SED) vasculaire peut etre responsable d'un deces precoce par rupture arterielle. Observation. – Un enfant de 13 ans atteint d'un SED vasculaire a ete hospitalise en urgence pour dissection aortique. L'enfant est decede en postoperatoire, en etat de choc hemorragique par rupture de prothese aortique. Discussion. – La precocite de cette complication du SED vasculaire est inhabituelle. La surveillance clinique et echographique n'a pas permis de prevenir sa survenue. Le deces de l'enfant, malgre un diagnostic et une prise en charge rapides, montre les difficultes de la cure chirurgicale en cas d'atteinte vasculaire. Conclusion. – Les patients atteints de SED vasculaire doivent etre identifies en raison du risque de complications mortelles. Le traitement chirurgical est difficile, les vaisseaux etant tres friables. Un traitement preventif par betabloquants est en cours d'evaluation.

International audience

International audience