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To evaluate the impact in maternity hospitals of using an embroidered "I sleep on my back" sleeping bag on observing the sleeping recommendations at 1 month after birth.This was a multicentere prospective study, exposed/unexposed type, in which mothers answered questionnaires (by telephone and online) 1 month after giving birth. The exposed group consisted of mothers who had given birth in a maternity hospital of the ELENA network in which the embroidered sleeping bag was used as a preventive action; the unexposed group of mothers gave birth in a maternity hospital of the RP2S network, without this specific preventive action.A total of 540 mothers participated in the study: 245 in the exposed group and 295 in the unexposed group. In the exposed group, 87.3% of infants slept exclusively on their back versus 75.9% in the unexposed group (P0.001); 91% of the mothers reported having actually used the sleeping bag. Except for room-sharing, compliance with the other sleeping recommendations was higher in the exposed group.Sleeping practices when infants were 1 month old were not optimal in our study population. A simple preventive initiative in maternity hospitals, using the embroidered "I sleep on my back" sleeping bags, is relevant and effective in improving compliance with the sleeping recommendations for infants at home.

Resume Contexte Les connaissances sur la tolerance des medicaments chez l’enfant sont limitees. L’etude des notifications spontanees d’effets indesirables (EI) peut etre une source d’information importante. Objectif Decrire chez l’enfant de 0 a 17 ans inclus, les caracteristiques des notifications d’EI medicamenteux communiques au centre de pharmacovigilance de Saint-Etienne de 2004 a 2013. Methode Cette etude descriptive retrospective a ete realisee a partir des notifications d’EI medicamenteux, classes selon des criteres d’âge, de sexe, de gravite, d’organe atteint (classification par systeme organe classe) et de molecule incriminee (classification anatomique, therapeutique et chimique des medicaments). Resultats Trois cent soixante-et-onze notifications ont ete analysees. Le sex-ratio etait de 1. Les cas graves representaient 36 % des cas dont 73 % avaient entraine une hospitalisation ou une prolongation d’hospitalisation. Les EI les plus frequents avaient ete d’ordre cutane (21,1 %), infectieux (13,5 %) et generaux (11,5 %). Les classes therapeutiques les plus impliquees avaient ete les agents anti-infectieux a usage systemique (38,7 %), principalement les vaccins et les antibiotiques, mais egalement les therapeutiques antineoplasiques et immunomodulatrices (19,2 %) et les medicaments agissant sur le systeme nerveux (12,5 %). Conclusion L’analyse des notifications d’EI medicamenteux est une source d’information importante et sous-exploitee en pediatrie. Ces donnees confortent celles des bases europeennes de declaration spontanee. La part preponderante des anti-infectieux, dont les antibiotiques, pose la question du bon usage de cette classe dans cette population. Des etudes de plus grande envergure ciblees sur des molecules a risque permettraient d’ameliorer les connaissances et la securite d’utilisation des medicaments chez l’enfant.

Neonatal seizure incidence is approximately 3.5/1000 live births. Inborn metabolic diseases account for approximately 1-4% of neonatal seizure cases. Among them, the catabolism anomaly of sulfite to sulfate caused by sulfite oxidase or cofactor molybdenum deficiency (MoCD) is a rare metabolic disorder in which neurological damage is similar to that found in neonatal asphyxia. We report the case of a newborn child with a MoCD. Born of related parents, this child had intrauterine growth retardation predominating on size diagnosed in the third trimester of pregnancy. After an uneventful birth, he presented convulsions at the 12th hour of life, confirmed by an electroencephalogram. Anticonvulsants and adjuvant treatments were ineffective; the child then required intubation at day 5 of life. The initial biological assessment found an elevated blood lactate level and the chromatography of amino acids showed a significant decrease of cystine and the abnormal presence of sulfocysteine, suggestive of a lack of sulfite oxidase activity. The uric acid level measured secondarily was low, suggesting a MoCD. Brain MRI was performed at day 5 for diffuse ischemic injury of different ages. After limiting acute care, the child died at day 14 of life. The genetic study of the child found a homozygous mutation c.564+1G>A in the MOCS2 gene, confirming the diagnosis of MoCD, present in the heterozygous state in both parents. Investigations in a logical sequence quickly suggested the MoCD diagnosis in presence of a low plasma concentration of cysteine, the abnormal presence of sulfocysteine, and low uric acid levels. The diagnosis of sulfite oxidase deficiency was made. Until now, no treatment has proven effective but a new treatment appears to be effective in cases with a MOCS1 mutation.

Infantile pyknocytosis is a neonatal hemolytic disorder which causes anemia and icterus and is characterized by the presence of an increased number of distorted red blood cells called pyknocytes. Resolution spontaneously occurs in the first semester of life. It has been generally described as a rare entity, with an occasional family history. We report seven cases of infantile pyknocytosis observed in our hospital in 3 years. Most of the infants presented with hemolytic icterus and profound anemia that was reaching its peak by the 3rd week of life. Three neonates received one to three red blood cell transfusions, according to former recommendations. However, the following four received a treatment with recombinant erythropoietin administered subcutaneously. Only one of these four cases required a transfusion. All of them were free of hematological disease 2-3 months after completion of treatment. Infantile pyknocytosis is a recognized cause of neonatal hemolytic anemia, which requires careful examination of red cell morphology on a peripheral blood smear. The cause of this transient disorder remains unknown. Our observations show that recombinant erythropoietin therapy is effective in treating infantile pyknocytosis and increases the reticulocyte response, thus improving the hemoglobin level.

In France, nearly 500 infants still die unexpectedly every year. In 2009, the French Institute for Public Health Surveillance published a survey showing great heterogeneity in the management of sudden unexpected infant death (SUID) cases. The aim of this study was to evaluate the actual diagnostic approach to SUID in the different reference centers in France and to determine the degree to which the 2007 recommendations of the French National Authority for Health (Haute Autorite de sante [HAS]) are applied. We conducted a multicenter cross-sectional epidemiological study by email sent to the 36 SIDS reference centers with questions on examinations usually performed in SIDS cases. We also submitted six SUID test cases for death classification to the different reference physicians. Twenty-nine of 36 centers (80.5%) responded. Among the recommended tests, only blood cultures, analysis of cerebrospinal fluid, and a proposal to autopsy are done in 100% of the centers. Other investigations are not carried out systematically: skeleton radiography (65.5%), cranial CT scan (58%), eye fundus (20.7%), metabolic analysis (65.5%), and blood toxicology (62%). The main reasons for non-completion of these tests were hospital practices, lack of resources, technical difficulties, cost of tests, and difficulty in interpreting results (50% reported not knowing the postmortem biological standards). None of the institutions apply the HAS recommendations entirely. The classification of causes-of-death test cases also varied between the centers, with a maximum of 62% concordance in their responses. In 2013, in France, there is still substantial heterogeneity in the diagnostic set-up of SUIDS, a non-exhaustive implementation of the recommendations of the French National Authority for Health, and an unsatisfactory SUIDS classification tool because of considerable discordance between physicians. These results explain the current difficulties in obtaining reliable epidemiological data, because many teams do not use all the investigations recommended to find the cause of death. Therefore, the establishment of a national registry would provide accurate and up-to-date epidemiological, environmental, medical, and biological data to identify the events causing death and propose appropriate means of prevention.

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.

Resume Nous rapportons une intoxication accidentelle par cannabis chez une petite fille de 10 mois. Celle-ci presentait depuis quelques heures des troubles de la conscience associant en alternance somnolence et agitation, une hypotonie generalisee, une fixite du regard et des sourires inadaptes. Il n’existait pas de troubles cardiorespiratoires. Les investigations complementaires initiales etaient normales (biologie sanguine, examen du liquide cephalo-rachidien et scanner cerebral), eliminant de premier abord les principales causes de coma (meningo-encephalite, traumatisme crânien, desordres metaboliques). Un interrogatoire oriente des parents conduisait a suspecter une absorption accidentelle d’un morceau de cannabis, confirmee par la mise en evidence de taux sanguins et urinaires eleves de derives cannabinoides. La prise en charge etait symptomatique et l’evolution clinique marquee par la survenue d’une phase d’agitation et d’irritabilite persistant 18 h puis par une regression complete de la symptomatologie. Du fait de l’importance de sa consommation en France, l’intoxication pediatrique par le cannabis semble de plus en plus frequente. Les seuils toxiques chez l’enfant ne sont cependant pas connus. Le diagnostic repose sur l’interrogatoire et sur la recherche de derives cannabinoides dans les urines. La symptomatologie clinique, plus prolixe chez l’enfant que chez l’adulte, reunit des manifestations neurologiques (somnolence, agitation, troubles du comportement, ataxie, hypotonie, coma, convulsions), cardiorespiratoires (tachycardie, bradypnee, apnee) ou homeostasiques (hypothermie). Le traitement est essentiellement symptomatique mais necessite parfois une reanimation active. Les recommandations preconisent une surveillance clinique de 6 a 24 h apres l’intoxication et une prise en charge medico-sociale adaptee.

Resume Introduction Les hemangiomes du nourrisson representent les plus communes des tumeurs benignes du nourrisson. Le pronostic fonctionnel, ou exceptionnellement vital, est en jeu dans 10 a 20 % des cas et justifie l’instauration d’un traitement systemique. Cas clinique Une enfant de 8 mois, presente depuis sa naissance un volumineux hemangiome de l’avant-bras gauche de 12 cm × 10 cm de diametre et de 4 cm d’epaisseur, complique recemment en son centre d’une ulceration de 5 cm de diametre, douloureuse et resistante aux antalgiques de palier 1. Adressee initialement pour des seances de laser a colorant pulse, un traitement complementaire par voie generale s’avere indispensable et une therapeutique par betabloquants est proposee aux parents. En l’absence de contre-indication, le propanolol, beta 1 et 2 bloqueur non cardioselectif est instaure a la posologie de 2 mg/kg/24 h (Avlocardyl®, presentation injectable en ampoule de 5 mg/5 ml administree par voie orale). Une surveillance stricte electrocardiographique et tensionnelle est realisee, d’abord hebdomadaire pendant 15 j puis espacee tous les 15 j les 2 mois suivants. L’efficacite remarquable de cette therapeutique tant sur la qualite de cicatrisation que sur la rapidite de l’affaissement de l’hemangiome permet un arret progressif de cette molecule sur 1 mois ½. Discussion Si la corticotherapie generale est le traitement de reference dans la prise en charge des hemangiomes a probleme en phase proliferative chez le nourrisson, la frequence de ses complications et le recours frequent a la chirurgie ou l’embolisation impose le choix d’autres alternatives therapeutiques. La classe des betabloquants semble incontournable dans cette indication. Les modalites d’administration et de suivi ambulatoire sont discutees.

We report 10 paediatric cases of ventricular repolarisation disorders and long QT syndrome, which differed in their mode of revelation, from asymptomatic forms to syncope events or heart arrest. Diagnosis is based on electrophysiological explorations and exhaustive genetic investigation. It allows a well-codified preventive and therapeutic action according to the genotype.

Resume Les enterovirus pathogenes (echovirus, coxsackie virus A et B, enterovirus non classes) sont responsables de tableaux varies, peu specifiques et souvent benins chez l'enfant (a l'exception des virus de la poliomyelite). Cependant, ces infections chez le nourrisson de moins de 3 mois peuvent evoluer dramatiquement, avec des atteintes cardiaques ou neurologiques graves. Dans cette tranche d'âge, elles posent egalement le difficile probleme du diagnostic differentiel vis-a-vis des infections bacteriennes neonatales a revelations retardees. Une contamination maternofœtale (ou neonatale par la mere) peut etre a l'origine d'avortements spontanes ou d'infections perinatales graves. Le diagnostic repose classiquement sur l'isolement du virus en culture cellulaire et, depuis quelques annees, sur les techniques d'amplification genique (poh'merase chain reaction) . Comme il n'existe a l'heure actuelle aucune classe therapeutique commercialisee, efficace dans les infections a enterovirus, la prevention doit etre au centre de la prise en charge chez le petit nourrisson. La place de traitements comme les immunoglobulines, les vaccinations ciblees, les antiproteases, reste a definir, tout comme le bilan systematique necessaire devant le diagnostic d'enterovirose.

Objectif Le syndrome GACI est une maladie autosomique recessive rare caracterisee par des calcifications arterielles et periarticulaires. La plupart des enfants decede dans les premiers mois de vie de complications cardiovasculaires. Un rachitisme hypophosphatemique (RH) peut completer le phenotype, le pronostic vital est alors meilleur. Ce syndrome rare est meconnu. Sujet Nous decrivons une fillette qui a presente des calcifications neonatales exuberantes, de regression spontanee, puis a l’âge de 3 ans un RH. La supplementation phospho-vitaminique n’a permis aucune amelioration clinique et s’est compliquee d’une recidive des calcifications. Le diagnostic de GACI a ete confirme par sequencage du gene ENPP1 (Ecto-Nucleotide Pyrophosphatase/Phosphodiesterase 1). Des anomalies retiniennes sont venues completer le phenotype, ces signes sont habituellement observes dans le pseudo xanthome elastique (PXE). Discussion et conclusion Jusqu’alors considerees comme deux pathologies distinctes, il est maintenant admis que le GACI et le PXE appartiennent a une meme entite, heterogene sur le plan clinique et genetique, avec des mutations concernant deux genes intervenant dans une meme voie d’inhibition de la calcification: ENPP1 et ABCC6 (ATP-Binding Cassette Subfamily Number 6).