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Riassunto La “morte inattesa del neonato” (MIN), definita come “il decesso improvviso di un bambino di eta compresa tra 1 mese e 1 anno, fino ad allora in buona salute mentre nulla, nei suoi antecedenti conosciuti o nella storia dei fatti, poteva lasciarlo prevedere”, e la principale causa di mortalita infantile nei paesi sviluppati; il 70% dei decessi si verifica prima che il bambino compia i sei mesi. Al termine di una valutazione eziologica esaustiva comprendente un’autopsia per scopi scientifici, questa MIN puo essere attribuita a un’origine medica, malformativa, genetica, infettiva, accidentale o traumatica. E solo in assenza di una spiegazione (circa il 50% dei casi) che una MIN puo essere classificata come sindrome della morte improvvisa del neonato (SIDS). A volte, si trova una combinazione di diversi fattori causali. Viene regolarmente avanzato il modello del “triplo rischio”, che associa: un bambino vulnerabile alla nascita (prematurita, basso peso alla nascita, predisposizione genetica, ecc.), un periodo critico del suo sviluppo compreso tra 0 e 6 mesi in cui predomina un’immaturita neurologica, autonomica, respiratoria e cardiaca, e un’esposizione a fattori di “stress” esterni o ambientali (decubito ventrale o laterale, fumo passivo, riposo su una superficie non idonea, oggetti nel letto, infezioni, ecc.). Tuttavia, non c’e spazio per la fatalita di fronte a questi tragici eventi. Gli studi scientifici devono continuare a ricercare una particolare vulnerabilita. Attualmente, e stimato che il 50% delle MIN sarebbe evitabile se si seguissero le semplici raccomandazioni di un di riposo in posizione dorsale stretta e di ambiente sicuro. La prevenzione e fragile ma efficace, anche se il suo successo rende meno visibile il problema che combatte, con il rischio di pensare che sia scomparso.

Resumen La «muerte inesperada del lactante» (MIL), que se define como «la muerte subita de un nino de entre 1 mes y 1 ano de edad, que hasta el momento gozaba de buena salud, sin que existiese nada en sus antecedentes conocidos ni en el relato de los hechos que permitiera preverla», es la principal causa de mortalidad infantil en los paises desarrollados; el 70% de las muertes se produce antes de los 6 meses del nino. Despues de un estudio etiologico exhaustivo que incluya una autopsia cientifica, esta MIL podra atribuirse a una causa medica, malformativa, genetica, infecciosa, accidental o traumatica. Solo si no existe una explicacion (aproximadamente en el 50% de los casos), una MIL puede clasificarse como muerte subita del lactante (MSL). A veces se encuentra una combinacion de diferentes factores causales. Se menciona normalmente el modelo del «triple riesgo», que asocia: nino vulnerable debido a su nacimiento (prematuridad, bajo peso al nacer, predisposicion genetica, etc.); periodo critico de su desarrollo entre los 0-6 meses, cuando predomina la inmadurez neurologica, autonoma, respiratoria y cardiaca, y exposicion a factores externos o ambientales de «estres» (decubito ventral o lateral, tabaquismo pasivo, colchon sobre una superficie inadecuada, objetos en la cama, infecciones, etc.). Sin embargo, no hay lugar para la fatalidad frente a estos tragicos acontecimientos. Los trabajos cientificos deben continuar buscando una vulnerabilidad particular. Se estima actualmente que el 50% de las MIL seria evitable si se respetasen las sencillas recomendaciones sobre acostar al nino en posicion dorsal estricta y en un entorno seguro. La prevencion es fragil pero eficaz, aunque su exito hace que sea menos visible el problema que combate, a riesgo de pensar que no existe.

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.

International audience; Objective: To study recent epidemiologic trends of sudden unexpected death in infancy (SUDI) in Western Europe. Study design: Annual national statistics of death causes for 14 Western European countries from 2005 to 2015 were analyzed. SUDI cases were defined as infants younger than 1 year with the underlying cause of death classified as “sudden infant death syndrome,” “unknown/unattended/unspecified cause,” or “accidental threats to breathing.” Poisson regression models were used to study temporal trends of SUDI rates and source of variation. Results: From 2005 to 2015, SUDI accounted for 15 617 deaths, for an SUDI rate of 34.9 per 100 000 live births. SUDI was the second most common cause of death after the neonatal period (22.2%) except in Belgium, Finland, France, and the UK, where it ranked first. The overall SUDI rate significantly decreased from 40.2 to 29.9 per 100 000, with a significant rate reduction experienced for 6 countries, no significant evolution for 7 countries, and a significant increase for Denmark. The sudden infant death syndrome/SUDI ratio was 56.7%, with a significant decrease from 64.9% to 49.7% during the study period, and ranged from 6.1% in Portugal to 97.8% in Ireland. We observed between-country variations in SUDI and sudden infant death syndrome sex ratios. Conclusions: In studied countries, SUDI decreased during the study period but remained a major cause of infant deaths, with marked between-country variations in rates, trends, and components. Standardization is needed to allow for comparing data to improve the implementation of risk-reduction strategies.

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.

Resume La necessite d’une evaluation reguliere des aptitudes neuromotrices du nourrisson est un fait etabli qui trouve sa legitimite dans le benefice d’une prise en charge precoce lorsque des troubles sont averes. L’imagerie conventionnelle et la clinique sont regulierement mises en defaut en periode neonatale, pour predire la survenue de troubles neurodeveloppementaux a distance. L’examen clinique habituel de depistage des troubles neuromoteurs du nourrisson ou « examen de depistage standard » (EDS), pratique par la majorite des cliniciens generalistes ou pediatres est la methode la plus utilisee basee sur les recommandations de l’examen type Amiel-Tison. D’autres methodes existent mais n’ont pas necessairement ete publiees et validees. C’est le cas de la technique d’evaluation precoce des aptitudes motrices du nourrisson (EPAM), decrite par M. Michel Le Metayer. Nous avons realise une etude longitudinale prospective multicentrique internationale visant a comparer cette derniere technique EPAM a la methode de reference actuelle EDS, dans une population de 227 enfants issus de 5 services de neonatologie belge, italien ou francais sur une periode de 2 ans. Un niveau de concordance a pu etre etabli entre les deux methodes d’examen mais reste neanmoins modere (indice κ = 0,38). Les valeurs de specificite et sensibilite sont statistiquement equivalentes. La technique d’evaluation precoce des aptitudes motrices EPAM du nourrisson parait tout a fait exploitable en pratique courante sous reserve d’une formation adaptee. La methode EPAM pourrait trouver tout son interet au cours de l’examen clinique lorsque des elements de precision sont indispensables dans l’apprehension precoce des atteintes cerebromotrices severes chez le nourrisson a risque neurologique etabli.

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 Objectifs Dans le cadre du reseau de perinatalite ville–hopital ELENA Loire–Nord-Ardeche, les liaisons postnatales entre les services de maternites et les services de protection maternelle et infantile (PMI) sont coordonnees par le conseil general de la Loire. Methode Nous avons evalue l’efficience de l’outil fiche de liaison (FDL) dans la transmission des informations, a partir de l’analyse de 819 FDL implementees en 2011 par les services de maternite et de neonatologie du CHU de Saint-Etienne. Resultats Le taux de remplissage des items « obligatoires » de la FDL est superieur a 90 % alors que le signalement aux familles des informations transmises a la PMI n’est pas optimal (63,4 %). Le secteur de PMI realise un retour dans 91,1 % des cas. Parmi les items « facultatifs », les commentaires libres existent dans 82,5 % des FDL. Discussion Une amelioration de l’information de l’usager sur la transmission d’information vers le secteur est necessaire. Notre etude a montre que si le fond de la fiche de liaison est pertinent, la forme est perfectible ; nous proposons une version « optimisee » de la FDL. Une informatisation et une implementation optimales du logiciel interne du conseil general permettraient egalement de reduire les delais de transfert d’information. Conclusion La coordination entre les acteurs hospitaliers et les services de protection maternelle et infantile du reseau de perinatalite Loire–Nord-Ardeche ELENA est perfectible. L’informatisation des liaisons entre les services hospitaliers et le conseil general est le seul garant d’une efficience de l’organisation humaine deja mise en place.

ARC syndrome (arthrogryposis - renal dysfunction - cholestasis) is a rare lethal multisystemic autosomal recessive disease. A newborn of consanguineous parents of Algerian descent presented cholestatic jaundice, dehydration, and Fanconi syndrome at 10 days of life. The blood smear showed a very characteristic gray appearance of platelets. A homozygous mutation was evidenced in the VPS33B gene. This gene codes for a protein involved in trafficking of intracellular vesicles. The mutation (c.604-2AG) present in the heterozygous state in the parents affects an invariant base of the splice acceptor site and to our knowledge has not been reported yet. This child died at the age of 3 months. Prenatal diagnosis was offered to the family; another pregnancy was carried to completion and a girl was born without the disease. The combination of cholestasis and proximal tubulopathy should suggest the diagnosis in a newborn with orthopedic problems. A blood smear greatly facilitates diagnosis.

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.

Summary Objective To evaluate the new TOXO IgG II Access ® test (Beckman Coulter). Materials and methods A comparative study of the TOXO IgG I and II Access ® , Axsym ® and Vidas ® tests was done on 406 consecutive samples. The western Blot (LDBIO TOXO II IgG ® ) was done as a reference technique in case of intertechnique discordance. Results The new TOXO IgG II Access ® test was found to be reliable and reproducible with a variation coefficient lower than 12% (at all levels of positivity) and as a result found to have a high discriminating power. For all the techniques tested, the following sensitivity and specificity values were found: 89.7 to 100% for the TOXO IgG II Access ® ; 90.2 to 99.6% for the TOXO IgG Axsym ® ; 91.4 to 99.6% for the TOXO IgG Vidas ® ; 94.8 to 99.6% for the TOXO IgG I Access ® . Discussion and conclusion It seems that the positive cut-off values suggested by pharmaceutical companies are very high (either due to economical reasons or too much security) leading to an imperfect sensitivity, a large number of unnecessary serological follow-up of pregnant women and difficulty to determine the serological status of immunosuppressed individuals.

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.

The emotional process is characterized by a negative bias in depression, thus it was legitimate to establish if they same is true in very young at-risk children. Furthermore, sleep, also proposed as a marker of the depression risk, is closely linked in adults and adolescents with emotions. That is why we wanted first to better describe the characteristics of emotional recognition by 3-year-olds and their links with sleep. Secondly we observed, if found at this young age, an emotional recognition pattern indicating a vulnerability to depression.We studied, in 133 children aged 36 months from the AuBE cohort, the number of correct answers to the task of recognition of facial emotions (joy, anger and sadness). Cognitive functions were also assessed by the WPPSI III at 3 years old, and the different sleep parameters (time of light off and light on, sleep times, difficulty to go to sleep and number of parents' awakes per night) were described by questionnaires filled out by mothers at 6, 12, 18, 24 and 36 months after birth. Of these 133 children, 21 children whose mothers had at least one history of depression (13 boys) were the high-risk group and 19 children (8 boys) born to women with no history of depression were the low-risk group (or control group).Overall, 133 children by the age of 36 months recognize significantly better happiness than other emotions (P=0.000) with a better global recognition higher in girls (M=8.8) than boys (M=7.8) (P=0.013) and a positive correlation between global recognition ability and verbal IQ (P=0.000). Children who have less daytime sleep at 18 months and those who sleep less at 24 months show a better recognition of sadness (P=0.043 and P=0.042); those with difficulties at bedtime at 18 months recognize less happiness (P=0.043), and those who awaken earlier at 24 months have a better global recognition of emotions (P=0.015). Finally, the boys of the high-risk group recognize sadness better than boys in the control group (P=0.015).This study confirms that the recognition of emotion is related to development with a female advantage and a link with the language skills at 36 months of life. More importantly, we found a relationship between sleep characteristics and emotional recognition ability and a negative bias in emotional recognition in young males at risk for depression.

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+1GA 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.

Knowledge of drug tolerance and safety in children is limited. The study of spontaneous notifications of adverse events (AEs) can be an important source of information.Describe the characteristics of drug adverse effects (DAEs) in children 0-17 years of age reported to the pharmacovigilance center of Saint-Étienne in 2004-2013.This retrospective descriptive study was conducted based on DAE notifications, classified according to age, sex, severity of organ affected (using classification by the System organ class [SOC]) and by suspected drug (Anatomical therapeutic chemical [ATC] drugs).A total of 371 notifications were analyzed. The male:female ratio was 1. Serious cases accounted for 36%, of which 73% resulted in hospitalization or prolongation of hospitalization. The most frequent DAEs were cutaneous (21.1%), infection (13.5%) and general (11.5%). The most frequently involved therapeutic classes were anti-infectives for systemic use (38.7%), mainly vaccines and antibiotics, as well as antineoplastic and immunomodulatory therapy (19.2%) and drugs acting on the nervous system (12.5%).The analysis of notifications of adverse drug reactions is an important source of information and is underutilized in pediatrics. The data from this study confirm those of European databases with spontaneous reporting. The majority of anti-infectives including antibiotics raises the question of the proper use of this class in this population. Larger studies focused on the drugs at risk would improve the knowledge and safe use of medicines in children.

Soft infant carriers such as slings have become extremely popular in the west and are usually considered safe. We report 19 cases of sudden unexpected death in infancy (SUDI) linked to infant carrier. Most patients were healthy full-term babies less than 3 months of age, and suffocation was the most frequent cause of death.Infant carriers represent an underestimated cause of death by suffocation in neonates.• Sudden unexpected deaths in infancy linked to infant carrier have been only sparsely reported.• We report a series of 19 cases strongly suggesting age of less than 3 months as a risk factor and suffocation as the mechanism of death.

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.

The aim of this study was to evaluate the risk of hospital-acquired diarrhoea during an epidemic period through a prospective multicentre observational study. A systemic investigation of the hospital-acquired diarrhoea (occurring at least 48 h after hospital admission) was conducted through a standardised questionnaire from January to March 1999 in patients of 5 years old or less hospitalised in 28 wards (620 beds) belonging to 20 hospitals located in the south-east part of France. Overall, 241 cases of hospital-acquired diarrhoea were collected, corresponding to a prevalence of 3.3% (3.6% after exclusion of patients admitted for diarrhoea) and a density of incidence of 0.81 per 100 days of hospitalisation. The mean stay duration of hospital-infected patients was greater than 10 days, versus 3.9 days for the other children (P < 0.001). A readmission was required in 27% of the infected children. Rotavirus was involved in 97.8% of microbiologically documented cases (88%). In 50% of the cases, the hospital-acquired diarrhoea was seen in patients with bronchiolitis. Contact isolation measures were prescribed in 88.4% of the cases. These results stress that hospital-acquired diarrhoea represent an important medical and economic load for paediatric units and could be used as reference data to evaluate the impact of preventive measures, especially to reduce readmission and mean stay duration.

Severe combined immune deficiencies (SCIDs) are a heterogeneous group of severe cellular immunodeficiencies. Early diagnosis is essential to allow adapted care before life-threatening systemic infections or complications associated with live vaccines. Adenosine deaminase 1 deficiency (ADA1) is an inborn error of metabolism leading to severe lymphopenia and characteristic bone lesions. Herein, we present the typical case of a child in whom ADA SCID was diagnosed at 2 months of life, revealed by lung involvement and extreme lymphopenia. Immune restoration in terms of peripheral lymphocyte count with enzyme replacement therapy, namely pegylated bovine ADA, is satisfactory so far. The search for a compatible donor is underway. Correcting the genetic defect by gene transfer is also being considered. The phenotype of this very rare condition is described. A severe peripheral lymphopenia in a young child is a finding of utmost importance for the diagnosis of a primary cellular immunodeficiency.

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 Autorité de santé [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.

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.

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.

The number of visits to the pediatric emergency services has increased in the past 20 years in France and around the world, especially for neonates (under 28 days of age).Determine for neonates the reasons requiring medical consultation in the emergency pediatric unit of Saint-Etienne University Hospital (France) and isolate the proportion of "non-urgent" preventable consultations that could be managed outside of emergency units.Epidemiological, retrospective study on computerized data on neonates who were referred to the pediatric emergency unit of the Saint-Étienne University Hospital from 1 January to 31 December 2011. Four composite criteria "child not addressed by a healthcare professional; severity score G1, G2, G3 based on an internal scale; no further review undertaken; and return home" were used to define "non-urgent" consultations.A total of 419 infants were included in the study. The leading reasons for consultations were crying (14.1%), vomiting (11.9%), chest tightness (10.7%), fever (8.1%), and diarrhea (7%). The main diagnoses were acute nasopharyngitis (11.5%), gastroesophageal reflux (10%), colic (8.1%), and excessive parental anxiety (7.6%). The percentage of "non-urgent" consultations was 52.4%.Final diagnoses are quite similar to the reasons for consultation. The baby's unexplained crying and the inexperience of young parents resulted in an irrational anxiety. This study highlights the need for parental support at home after discharge from the maternity ward and the use of large-scale educational initiatives.

To describe the ultrasonographic (US) and fetal karyotyping data of fetuses with cystic hygroma diagnosed in the first trimester.Maternal and fetal data of 69 consecutive fetal cystic hygroma were analysed between 2002 and 2009.The mean size of the cystic hygroma was 6.3 mm ± 2.4 mm. US abnormalities were present in 54% of cases (37/69) (essentially hydrops fetalis in 45%), with an unfavourable prognosis (P=0.006). Chromosomal abnormalities were present in 53% of cases (36/68) (including 44% of Down syndrome). The rate of unfavourable outcome of pregnancy was 71% of cases (49/69) and was associated with the oldest mothers (P=0.011). In the chromosomally normal pregnancies, there were 59% (19/32) fetus with no apparently abnormalities. Among these 19 children, 13 have been followed up until an average age of 5 years and a half, the infant development was strictly normal.The current results suggest to look for the poor prognosis data: nuchal thickness superior to 6 to 6,5 mm, presence of a hydrops fetalis and/or US abnormalities, fetal karyotyping and/or US evolution of cystic hygroma.

The high frequency of bradycardia observed during the neonatal period requires cardiac monitoring but also understanding its intrinsic mechanisms, including responsiveness of the autonomic nervous system (ANS). Heart rate variability and spontaneous baroreflex analysis can help understand the autonomic dysregulation of cardiorespiratory control, possibly responsible for sudden infant death. In clinical neonatology practice, neonatal bradycardia does not warrant continuation of monitoring if it remains isolated, asymptomatic, and short (10 s), followed by a rapid cardiac acceleration indicating an adapted sympathetic response. Further evaluation of ANS responsiveness is possible for newborns including analyzing the complexity of the heart rate and respiratory variability. This allows better targeting children with high risk after discharge. The real-time evaluation of autonomic regulation could become a valuable tool in clinical practice.

Although childhood obesity is a major public health problem, the long-term follow-up of children who are overweight and obese has rarely been studied in France.We conducted a single-center observational study of 85 subjects who received medical follow-up for weight problems or obesity in 2001, at which time they were aged between 2 and 17 years. The study followed-up these subjects in 2012, after a mean of 10 years. We separated the study into two time periods. Initial follow-up periods - (A) from the first consultation to the end of individual or group care -and latency periods - (B) from the end of medical care to the year 2012 - were distinguished. A declarative survey based on questionnaires on dietary habits, activity levels, and anthropometric data of children and their parents was conducted in 2012. Two indicators of effectiveness monitoring (α) and post-follow-up (β) were created.Although 77% of patients had a favorable α indicator, demonstrating the effectiveness of initial management, especially if it was prolonged (32 months, P=0.007), a re-ascent of the BMI curve after ceasing monitoring occurred in half of the cases (47%) with subjects' BMI significantly correlated with their parents' BMI (P=0.004 for the mother and P=0.02 for the father).These observations encourage us to improve the medical follow-up on offer by educating and strengthening the role of parents to achieve a significant and lasting improvement in BMI and weight. In case of medical failure in supporting patients to achieve enough weight loss, the option of bariatric surgery can be considered, even if its recent introduction means that a long-term risk/benefit analysis has yet to be conducted.

We report a case of clonidine poisoning in a breastfed newborn. At 2 days of life, this boy presented a consciousness deficit with drowsiness, hypotonia, and suspected generalized seizures. There were no cardiorespiratory problems outside of progressive central apneas beginning the 5th day. Further initial investigations were normal (extensive biological exams, cranial ultrasonography and transfontanellar Doppler, electroencephalography, and brain MRI study), excluding the main causes of neonatal hypotonia (encephalitis, infection, metabolic disorder). However, new medical questioning revealed maternal daily intake of 0.15 mg clonidine for hypertension during and after pregnancy. Since it was impossible to quantify clonidine quantification in newborn serum and breast milk, a weaning test was performed the 9th day. Twenty-four hours after cessation of breastfeeding, complete regression of symptoms was obtained. Poisoning by clonidine after fetal and neonatal exposure through breast milk is rare but severe enough to simulate a neurological disease. Diagnosis is based on the search for drug use and the cessation of breastfeeding if doubt persists. Recovery of normal examination results is then rapid and complete.

The World Health Organization recommends exclusive breastfeeding of infants up to 6months. The proportion of breastfeeding initiation and duration increased more slowly in France than in neighboring European countries. The perinatal network data are incomplete. The objective of this study is to evaluate within the perinatal network "Loire-Nord Ardèche" (ELENA), breastfeeding rates in hospital discharge and at 2months, and identify needs for maternal support.Prospective and declarative study by written questionnaire, with all the women volunteers who gave birth in October 2011 in a maternity of our perinatal network.Population concerns 426 women volunteers of 968 new mothers. Two hundred and ninety-four questionnaires were used: 69% of women initiated breastfeeding, 63% have continued after the stay in the maternity and 50% at 2 months. Eighty percent chose to breastfeed before pregnancy, mainly for child health, 65% with the support of their spouse, 58% if their mother had breastfed. Simple pathologies of breastfeeding and childbirth were responsible for weaning. A third of women in difficulty have not consulted anyone, one third wanted more practical help and systematic support motherhood.The rate of initiation of breastfeeding or duration and the great influence of the surroundings of the mother, similar in this study to literature data, call for enhanced prenatal information for parents and systematic "lactation" consultation in the early post-partum, by trained professionals and with the help of support associations for breastfeeding. This study showed a clear need to support breastfeeding. It has also allowed targeting actions that would be able to avoid the majority of early weaning.

We describe a case of accidental cannabis poisoning in a 10-month-old girl, who presented with impaired consciousness, with drowsiness and restlessness, generalized hypotonia, and inadequate smiles. No circulatory or respiratory problems were observed. Initial investigations were not informative (blood biology, CT scan, and cerebrospinal fluid examination), while the main causes of coma (meningoencephalitis, head trauma, metabolic disorders) were excluded. Questioning the parents led to suspecting accidental ingestion of a piece of cannabis, which was confirmed by the detection of high blood and urine levels of cannabinoid derivatives. Management was symptomatic and the clinical course, marked by the occurrence of agitation and irritability episodes lasting up to H18, led to complete regression of symptoms. Because of the high consumption in France, pediatric poisoning by cannabis seems increasingly common. The toxic levels in children are unknown however. Diagnosis is based on questioning and the search for cannabinoid derivatives in urine. In children, clinical symptoms are more expressive compared to adults, with neurological (drowsiness, agitation, abnormal behavior, ataxia, hypotonia, coma, and convulsions) or cardiopulmonary (tachycardia, bradypnea, apnea) or homeostatic presentations (hypothermia). Treatment in children is essentially symptomatic but sometimes requires active resuscitation. Recommendations are based on clinical monitoring the first 24h after intoxication and on medicosocial support.

While blood pressure measurement methods in infants are well established, hypertension, a rare disease in this population, may still be revealed by heart failure. Kidney diseases are the most common causes of hypertension, prompting the search for a renovascular cause to start appropriate treatment. We report on 2 cases of late diagnosis of hypertension in infants, with hypertensive cardiomyopathy, one in the context of autosomal recessive polycystic kidney disease and the other in the context of renal artery stenosis with hemodynamic disorder, hypertensive encephalopathy and neurological sequelae. In both cases, the equilibrium of blood pressure was difficult to achieve in the acute phase. Renal ultrasound is fundamental for diagnosis. The potential complications related to hypertension require early diagnosis, emphasizing the importance of measuring blood pressure during a routine consultation in infants.

To study female pelves from Neolithic area (5000 years AD) in order to better understand the evolution of obstetrical mecanisms.The fossil material comprised 73 Homo sapiens pelves: we reconstructed all the 20 adult female bony pelves. We realised the shape and morphometric analysis of the pelvic cavity. Changes in pelvic neolithic morphology were compared with pelvic modern morphology.The pelves of prehistoric female were similar in shape with modern female. However, they differ in relative dimensions (transversal diameter of the pelvis inlet: respectively 118 mm vs 125 mm, p=0.02).Reconstructions based on Neolithic hominin fossils suggest that obstetrical mechanisms were probably common to Neolithic and modern humans: childbirth would probably require social adaptations and risks of perinatal and obstetric complications were undoubtedly high. However, the differences in morphometric analysis could suggest a change of human pelvis and raise the question of the evolution in obstetrical mechanisms in the future.

To evaluate risk factors associated with failed forceps delivery and to compare the maternal and neonatal morbidity.In this retrospective case-control study, all failed forceps delivery cases were analyzed from January 2005 to June 2008 and were compared to a successful forceps delivery cohort.The rate of failed forceps extraction was 4.4% (40/918). Specific risk factors were extraction above a fœtal station of S+2 (OR=43.03; IC 95%: 3.8-475.41), occipito-posterior position (OR=34.64; IC 95%: 4.08-293.5), and biparietal diameter higher than 95mm (OR=10.74; IC 95%: 1.4-82.41). Maternal and neonatal morbidity was few in both groups.Diagnosis of presentation level and variety of presentation are necessary before instrumental extraction. A "trial of forceps" should be performed with caution in a setting where a caesarean delivery could follow. Vacuum extraction could be interesting in case of occipito-posterior position.

To evaluate active management of obstetric cholestasis by comparing correlation between bile acid concentrations and computerized cardiotocography (Short-term variation [STV]).Retrospective analytic study about 51 obstetric cholestasis between January 2001 and August 2009. Demographic characteristics, bile acid concentrations and STV data were recorded since diagnosis to pregnancy with evaluation of fetal outcome.There were no statistical correlation between bile acid concentrations, STV data and fetal outcome. Patients with cholestasis diagnosed in second trimester delivered 12 days earlier than cholestasis diagnosed in third trimester (p=0.0012). Delivery before 37 weeks was found in 37.2% of cases. There were no perinatal deaths. Sixty percent had a recurrent obstetric cholestasis.Further works are necessary to study the exact pathogeny of obstetric cholestasis in order to determinate the best surveillance.

Hemangioma is the most common tumor of infancy. Ulceration and functional prognosis justify systemic treatment.We report the case of an 8-month-old girl with a voluminous ulcerated hemangioma of the left forearm with a large, painful, central ulceration. Conventional treatment with topical and/or systemic antibiotics was unsuccessful. Flashlamp-pumped pulsed-dye laser (FPDL) could not be used because of the thickness of the lesions. We decided to use beta-blocker therapy (propanolol) for 4 months with a noteworthy efficacy.Systemic corticosteroids and FPDL are currently the reference treatment of the superficial hemangioma during infancy, but the head and neck location or complications such as ulceration or the need for surgical embolization require the use of alternative treatments such as the beta-blocker. We discuss this option.

Shoulder dystocia is one of the most dreadful complications of vaginal deliveries. The aim of this observational study was to evaluate risk factors of dystocia, maternal and neonatal complications and recurrent risk factors.Sixty-six cases of shoulder dystocia occurring between January 1998 and August 2008 in our university hospital were identified. Demographic data, labor management, management of the shoulder dystocia and neonatal outcome were recorded.The incidence of shoulder dystocia was 0.3%. Multiparity, weight gain greater than 12 kg, and post-term delivery were more present in our study group. McRoberts' manoeuver and symphyseal pressure were first realised. Brachial plexus injuries affected 9% of neonates with skeletal fractures in 7.5% of cases. Maternal morbidity was evaluated at about 8%. Twenty per cent had a recurrent shoulder dystocia.Shoulder dystocia is an obstetric emergency which requires a prompt management of trained personnel. Despite the difficulty of being able to prevent shoulder dystocia, training the obstetric staff could probably improve management of shoulder dystocia.

A fetal megacystis is defined by a longitudinal bladder diameter more than 7 mm. The purpose of this study is to describe the prenatal ultrasound findings of this early fetal pathology and to assess pronostic and aetiologycal criteria.Between January 2003 and December 2008, 12 cases of early fetal megacystis were identified in our referral fetal medicine unit (Saint-Etienne hospital, France).There were two cases of spontaneous resolution and one case wasn't a fetal megacystis. Termination of pregnancy for medical indications was realised for another cases because of associated malformations and bad evolution (six cases) and three chromosomal abnormalities (two cases of trisomy 18 and one of trisomy 21).Sonographic follow-up and fetal karyotyping are important to evaluate prognosis. However, our data suggest that fetal megacystis is a severe condition when diagnosed in early pregnancy.

A comparative evaluation of 384 selected sera was performed using the Beckman Coulter Access and Abbott Axsym Toxo-IgG assays. The Axsym assay yields positive early results following infection, while the Access assay gives higher titres during chronic infection. The ratio between the two complementary tests, Axsym Toxo-IgG/Access Toxo-IgG (Ax/Ac), was compared with the Vidas anti-Toxoplasma IgG avidity index (AI). The Ax/Ac ratio decreased progressively as the time between infection and sampling increased. The mean Ax/Ac values (+/-SE) were 2.50 (+/-0.26), 2.14 (+/-0.13), 2.33 (+/-0.22), 1.34 (+/-0.09), 1.32 (+/-0.10), 0.92 (+/-0.08) and 0.74 (+/-0.07) for groups of sera sampled at 1, 2, 3, 4-5, 6-8, 9-12 and 13-24 months, respectively, after infection in pregnant women. These values were much smaller for cases with chronic infection (24 months), i.e., 0.56 (+/-0.03), 0.44 (+/-0.04) and 0.53 (+/-0.04), respectively, for pregnant women and immunodepressed patients with and without reactivation. Taking a ratio of 1 as a threshold for recent infection, the patients in the groups sampled at 1, 2 and 3 months had Ax/Ac ratios1 in 49/50 (98%), 53/55 (96.4%) and 36/36 (100%) cases, respectively. Thus, an Ax/Ac ratio of1 in serum from a pregnant woman allows a recent infection (3 months) to be excluded. This technique has the advantage of yielding positive results that develop much more rapidly than the AI, thereby helping to reassure large numbers of pregnant women and avoiding costly and unnecessary prophylactic treatment and follow-up.

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.