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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.

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.

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.

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.

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.

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.

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).

Background: Daily clinical observations and a recent study (D Vermeylen et al., 2004) suggest that reflux laryngitis (RL) is involved in apneas/ bradycardias of the newborn. The aim of this study is to develop and tovalidate a unique RL model in newborn lambs to test the assumption that a RL provokesan increase in apneas/ bradycardias/ desaturations observed within thelaryngeal chemoreflexes induced by the contact of a liquid with the larynx. Methods: A surgical instrumentation was performed on the first day of life, which included the insertion of a transcutaneous esophageal catheter in order to allow instillation of a gastric juice surrogate (HCl +pepsin at pH 2) directly on the larynx. The 2 ml-instillations were made 3 times per day for 6 consecutive days. At day 9-10 laryngeal chemoreflexes were induced during sleep. The larynx was removed at the time of necropsy to grade inflammation by a histological study. Results: Lambs in which a RL was induced (n = 4) presented characteristic signs of RL: cough, weak bleat, reduction in weight gain. Preliminary histological analyses showed a characteristic laryngeal inflammation. Preliminary results showing that apneas and oxygen desaturations seem more prominent in RL lambs than controls provided further validation ofour RL model. Conclusion: The ovine model developed in this study presents theclinical and histological characteristics of RL observed in newborns. Preliminary results suggesting that a RL increases apneas/bradycardias/desaturations when a liquid is in contact with laryngealmucosa in the newborn must be confirmed. Supported by: CIHR, FRSQ, Foundation of stars.