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Recently, ProAKAP4 has been described as a pertinent indicator of sperm quality in humans, pigs, and stallions. In knockout mouse models lacking AKAP4 expression, the male mice were infertile. As high proAKAP4 levels were significantly correlated with a lower proportion of abortions in intrauterine insemination settings in human reproduction, proAKAP4 could be considered a pertinent new sperm parameter for assessing embryo quality. Our main goal was to assess the proAKAP4 concentrations in Holstein bull semen for comparison with the motility sperm parameters and fertility outcomes in post-thawed conditions. Straws issued from 52 ejaculates from 13 bulls, retrospectively identified with known nonreturn rates (NRR) as a fertility indicator, were provided by Evolution XY. Expression of ProAKAP4 and AKAP4 was assessed using enzyme-linked immunosorbent assay, western blotting, flow cytometry, and microscopy methods. Using the Bull 4MID kit (4BioDx), striking variations in proAKAP4 concentrations were observed independently of the classic sperm parameters that were measured using computer-assisted semen analysis. A mean proAKAP4 concentration of 44.42ng per 10 million spermatozoa was obtained through all our series. Interestingly, the variations in proAKAP4 concentrations were positively correlated with progressive motility and with the linearity coefficient parameter. Furthermore, the post-thawed concentrations of proAKAP4 were significantly higher in bulls with a higher NRR in a field study of more than 190 000 AI. We then demonstrated for the first time a correlation between the semen concentration of proAKAP4 and NRR (P=0.05) in bulls. Threshold values of proAKAP4 were then determined, with good values being between 25 and 60ngmL−1. Below 25ngmL−1, the sperm were of poor quality. The proportion of functional spermatozoa (i.e. spermatozoa expressing proAKAP4 in ejaculates) was assessed using flow cytometry. We observed that the cell debris and dead spermatozoa were never immunolabeled with proAKAP4 antibodies. On testis tissue sections, proAKAP4 was expressed only from the spermatids stages up to the ejaculated spermatozoa, being influenced by external factors and reflecting good spermatogenesis. Our preliminary study highlighted the pertinence of proAKAP4 in assessing sperm quality in bulls. It could be interesting to further analyse the effect of proAKAP4 level of expression on capacitation and IVF. As high levels of proAKAP4 were significantly correlated with fertility rates and with progressive motility, proAKAP4 could be proposed as a predictive marker of bull fertility and could be further investigated to evaluate the quality of invitro-produced embryos.

Congenital glucose-galactose malabsorption (CGGM) is a rare autosomal recessive disorder, which presents as a protracted diarrhea in early neonatal life. We describe the clinical history, diagnostic evaluation, and management of 7 children with CGGM in western France. There were 4 girls and 3 boys from 5 families, born between 1984 and 2010. The principal complaint was a neonatal onset of watery and acidic severe diarrhea complicated by hypertonic dehydration. The diarrhea stopped with fasting. In 2 cases, the family history supported the diagnosis. In the other cases, elimination of glucose and galactose (lactose) from the diet resulted in the complete resolution of diarrhea symptoms. In 2 cases, the H2 breath tests were positive. In 2 cases, the HGPO or oral glucose tolerance test (OGTT) demonstrated an abnormal curve with glucose and a normal curve with fructose. DNA sequencing was not used. When glucose and galactose were eliminated from the diet, the infants had normal growth and development. In conclusion, CGGM is a rare etiology of neonatal diarrhea; however, the diagnosis is easy to make and the prognosis is excellent.

Decrire les circonstances de diagnostic, l’evolution et la prise en charge de la polypose de Peutz-Jeghers chez l’enfant. Analyse retrospective de 25 dossiers. Diagnostic devant la presence d’au moins un polype hamartomateux associe a deux des trois criteres suivants: antecedent familial, lentiginose, polype du grele et/ou mutation du gene STK11. Diagnostic clinique 21 fois (âge median: 8,2 ans), devant une invagination intestinale aigue (IIA) revelatrice dans 13 cas (2,8 a 15,1 ans). L’analyse genetique etait positive dans 16/18 cas. Au cours du suivi (mediane: 4,6 ans), 15 enfants ont presente une IIA. Soixante endoscopies oesogastroduodenales et 51 coloscopies ont retrouve des polypes dans 85 % et 80 % des cas avec polypectomie dans 62 et 70 %. Vingt et un examens par videocapsule ont retrouve des polypes du grele 18 fois. L’enteroscopie a double ballon (EDB) a permis une polypectomie sept fois sur sept. Dix-huit patients ont beneficie de 29 interventions chirurgicales avec enteroscopie peroperatoire (12) et resection intestinale (18). Le risque d’IIA et de resection est eleve et precoce. La realisation d’examens endoscopiques systematiques pourrait diminuer ce risque. Une etude prospective permettra seule de valider les âges recommandes pour debuter cette surveillance endoscopique.

Resume Objectifs Le metapneumovirus humain (hMPV) est responsable d’infections respiratoires hivernales de l’enfant. Le but de notre etude etait de decrire l’epidemiologie et la semiologie clinique des infections a hMPV du jeune enfant. Patients et methodes Une etude prospective a ete menee de novembre 2007 a avril 2008 chez les enfants de moins de 2 ans hospitalises au CHU de Tours et ayant beneficie d’un prelevement nasopharynge pour recherche virale. Les donnees epidemiologiques et cliniques des infections a hMPV ont ete comparees a celles des infections respiratoires a virus respiratoire syncytial (VRS) ou negatives pour ces 2 virus (groupe NEG). Resultats Nous avons inclus 374 enfants, dont 22 (6 %) infectes par le hMPV, 177 (47 %) par le VRS et 175 (47 %) NEG. L’infection a hMPV avait 1 pic epidemique au mois de decembre, semblable a celui du VRS, et etait rare a partir du mois de fevrier. La majorite des enfants hMPV avait moins d’1 an. Un diagnostic de bronchiolite etait pose chez plus de 90 % d’entre eux ; les signes cliniques respiratoires etant au premier plan. La severite de l’infection, estimee par la necessite d’une assistance nutritionnelle ou respiratoire, etait similaire a celle de l’infection a VRS et superieure a celle du groupe NEG. L’existence d’une maladie chronique sous-jacente ou d’1 antecedent de bronchiolite etait 1 facteur de risque d’infection a hMPV. Conclusion Ces resultats confirment la place importante du hMPV dans les infections respiratoires hivernales du jeune enfant, avec une severite similaire a celle du VRS.

UNLABELLED Pediatric non hypertrophic pyloric stenosis (NHPS) are uncommon. Their causes and treatments are debated. MATERIAL AND METHOD Retrospective review of all cases of NHPS from 3 pediatric surgery services during the period 1984-2002. RESULTS Six children, aged 17 months to 15 years, underwent surgery for NHPS. Clinical symptoms, food vomiting and loss of weight, were present for several weeks before the diagnosis of NHPS was made. The diagnosis was peptic stenosis in 3 cases and has not been established in 3 cases. Search for Helicobacter pylori was negative in all cases. Failure of specific medical treatment and endoscopic dilatations led to pyloric resection in 3 cases and pyloroplasty in 3 cases. Post operative course was uneventful with normal oral feeding and normalisation of weight status. Histologic data were aspecific. No recurrence was observed. DISCUSSION We discuss the origin of the pyloric stenosis, regarding clinical, operative and pathological data: were the stenosis the cause or consequence of peptic ulcer? Peptic disease is always advocated, but difficult to prove and may be excessively incriminated. Late symptomatic congenital and acquired idiopathic pyloric stenosis should be recalled. In all cases of proved pyloric stenosis, after failure of medical and endoscopic treatment, a simple surgical procedure (pyloroplasty) associated with medical treatment seems to be effective. CONCLUSION The diagnosis of NHPS should be suspected in a child with food vomiting and loss of weight if his age is not concordant with hypertrophic pyloric stenosis. Upper gastro-intestinal series and endoscopy are diagnostic. The precise cause of the stenosis is more difficult to asses. When the medical treatment fails, a pyloroplasty is usually curative.

Resume L'aerophagie est une situation morbide definie depuis une dizaine d'annees parmi les troubles fonctionnels digestifs et, plus recemment, elle a trouve sa place dans la classification des troubles fonctionnels de l'enfant (criteres de Rome II). Elle reste mal connue et insuffisamment identifiee, en particulier chez l'enfant sans deficience mentale. Objectifs Decrire l'enfant avaleur d'air et proposer une prise en charge. Population et methodes Cette etude retrospective a concerne 13 enfants d'intelligence normale et indemnes de maladie neuromusculaire, pour lesquels ce diagnostic a ete porte. Les donnees anamnestiques et cliniques ont ete precisees et un contact pris ulterieurement aupres des medecins traitants et des familles a permis de connaitre l'evolution des enfants. Resultats Dix garcons et 3 filles, âges de 2,5 ans a 10 ans, ont consulte pour douleurs et ballonnements abdominaux evoluant depuis plusieurs mois et ayant fait l'objet de multiples investigations. Neuf enfants avaient des tics et 3 des troubles du langage. Le diagnostic a repose sur l'observation de la deglutition d'air (7 cas) et d'une distension gastrique et colique dans 10 cas. Trois enfants avaient un syndrome de Chilaiditi. L'evolution, avec un recul moyen de 28 mois, a ete favorable 12 fois sur 13, grâce a une prise en charge longue, parfois decevante, associant pediatre, psychiatre et orthophoniste. Un enfant a ete perdu de vue. Conclusion L'entite « enfant avaleur d'air » n'est pas exceptionnelle et merite d'etre mieux connue des pediatres, psychiatres et chirurgiens. Le retard a evoquer ce syndrome conduit a une multiplicite d'examens complementaires, normaux, sources d'angoisse. Ce trouble fonctionnel ne doit pas rester une entite insuffisamment diagnostiquee et le reconnaitre tot doit permettre d'instituer rapidement une prise en charge multidisciplinaire.

Resume Objectifs. – Les gastro-enterites aigues (GEA) sont une cause frequente d’hospitalisation de l’enfant, en particulier en hiver, alors que des mesures de prevention primaire et secondaire efficaces sont disponibles. Les objectifs de ce travail etaient d’estimer, en France, la morbidite des GEA infectieuses chez les enfants hospitalises âges de moins de 5 ans et de decrire leurs caracteristiques et leur cout. Methodes. – Le programme de medicalisation des systemes d’information (PMSI) couvre les hospitalisations publiques et privees de court sejour. Ont ete retenus tous les sejours (France entiere) de 1997 avec un code de GEA 1) en diagnostic principal ou 2) en diagnostic associe avec un symptome ou une complication de GEA en diagnostic principal. Les deces associes a une GEA identifies par le PMSI ont ete compares a ceux identifies en 1997 par les certificats de deces recenses par l’INSERM, CepiDC. Resultats. – 51 125 sejours ont ete identifies soit un taux annuel de 1 385 cas/100 000 enfants de moins de 5 ans, et 11,4 % des hospitalisations a cet âge. Au vu du codage, ces GEA etaient principalement dues a des virus (36 %), dont 43 % de rotavirus, ou des bacteries (8 %), dont 60 % de salmonelles, mais la plupart etaient « presumees infectieuses » (56 %). Le maximum saisonnier etait hivernal pour le rotavirus, les autres GEA virales ou « presumees infectieuses », et estival pour les salmonelloses. Les GEA, en particulier a rotavirus, etaient d’autant plus frequentes que l’enfant etait jeune (de 3606 cas/100 000 enfants de moins de 1 an a 257 cas/100 000 enfants de 4 ans). Une complication, principalement la deshydratation, etait notee dans 21 % des causes virales et dans 17 % des causes bacteriennes. Quatorze deces etaient enregistres a la fois dans le PMSI et les certificats de mortalite. La duree moyenne de sejour (3,2 jours) etait augmentee chez les enfants de moins de 1 an, en cas d’origine virale, de complication ou de bronchiolite associee. Un cout total d’hospitalisation a ete estime a 408 344 KF (environ 62 millions d’Euros), en valorisant les sejours avec le point d’ISA national 1997. Discussion. – Pour l’etude des GEA, le PMSI offre une description coherente avec les donnees disponibles en France et a l’etranger. La realisation non systematique d’un examen de selles explique qu’une majorite soit sans etiologie precisee. Ces GEA « presumees infectieuses » ont des caracteristiques similaires aux GEA virales. Malgre des variations de codage, le poids des effectifs a mis en evidence des tendances. Le PMSI permet d’estimer le cout important des hospitalisations pour GEA et devrait permettre de suivre l’impact d’eventuelles campagnes de prevention.

Background Familial defective apolipoprotein B-100, a dominantly inherited form of hypercholesterolemia caused by a single Arg3500Gln mutation, is silent in childhood but may confer a high risk of cardiovascular disease in adulthood. The objective was to determine the prevalence of familial defective apolipoprotein B-100 in hypercholesterolemic French children and to provide a basis for targeting screening efforts in this population. Methods One hundred ninety children attending 13 pediatric clinics distributed throughout France were included based on the presence of type IIa hypercholesterolemia with a plasma low-density lipoprotein-cholesterol level of more than 130 mg/dL. The Arg3500Gln mutation was detected in dried blood spots using a polymerase chain reaction assay combined with enzymatic restriction. Results Three hyperlipidemia phenotypes were found: monogenic dominant pure hypercholesterolemia (n = 117), polygenic hypercholesterolemia (n = 43), and combined hyperlipidemia (n = 11). Three unrelated children were heterozygous for the Arg3500Gln mutation; all three had monogenic dominant pure hypercholesterolemia (3/94 families; 3.2%), yielding a prevalence of 1.83% (3/164) in hypercholesterolemic children, which is similar to prevalences reported in European adults. Conclusions The familial defective apolipoprotein B-100 mutation was common (1/31) in children with a phenotype of familial hypercholesterolemia, supporting screening in this population with the goal of preventing premature cardiovascular events.

Resume Face a la plainte d'un enfant souffrant de douleurs abdominales, les proches craignent l'appendicite. Toutefois, ils ont souvent entendu dire: ⪡ ce n'est rien ⪢ ou ⪡ c'est de la comedie ⪢. Consulte a ce propos, le medecin gagne a savoir analyser les symptomes, regrouper les arguments permettant d'eviter la multiplication d'examens inutiles et angoissants, et reperer la situation a risque qu'il ne faut pas meconnaitre. Une ecoute attentive, un interrogatoire oriente, une analyse complete des courbes de croissance staturoponderales permettent, associes a un examen clinique sans faille, d'affirmer qu'on est face a une douleur recurrente reactionnelle ou a une pathologie plus rare. Cette pathologie merite d'etre identifiee si on sort du cadre des douleurs reactionnelles, et non l'inverse. On doit evoquer l'infection aHelicobacter pylori, une pathologie biliopancreatique, ou une cause toxicometabolique comme etant une des causes les moins rares. Mais poser le diagnostic de pathologie reactionnelle ne dispense pas de la prise en charge ni de la recherche du facteur declenchant, seule facon d'en obtenir la maitrise.

Resume Les enfants adoptes d'origine etrangere sont en nombre croissant depuis une quinzaine d'annees. Nous avons voulu analyser les particularites pathologiques et les difficultes associees a l'adoption internationale. Patients et methodes Soixante-huit dossiers d'enfants adoptes, hospitalises ou recus en consultation entre le 1er janvier 1986 et le 31 decembre 1997, ont ete etudies retrospectivement. L'analyse a porte sur l'âge au moment de la premiere consultation, l'âge au moment de l'adoption, le pays d'origine et les problemes de sante qui se sont poses, en particulier l'etat nutritionnel, les maladies infectieuses associees et le developpement psychomoteur. Resultats La majorite des enfants sont adoptes avant l'âge de 12 mois (61,6 % des cas) et surtout avant 6 mois (49,3 % des cas). Les enfants proviennent essentiellement d'Afrique et de l'ocean Indien pour 48,5 % et d'Asie du Sud-Est pour 33,8 % des cas. La malnutrition proteinoenergetique est une situation frequente pour les enfants originaires d'Afrique. Un etat de malnutrition severe defini par un poids inferieur a — 2 ecarts-types (ET) par rapport a la taille a ete retrouve 21 fois (30,9 % des cas) et a necessite une hospitalisation de 27 jours en moyenne pour obtenir une correction du poids. Aucune maladie objet de depistage neonatal (hypothyroidie, hyperphenylalaninemie) n'a ete mise en evidence. Aucun enfant n'a une serologie positive pour le virus de l'immunodeficience humaine (VIH). En revanche, nous avons note un certain nombre d'infections transmissibles: hepatite B (11 fois), syphilis congenitale (quatre fois) et tuberculose (six fois), d'evolution toujours favorable apres traitement. Parmi les autres maladies, les diarrhees aigues, les diarrhees chroniques, les parasitoses digestives, la gale, sont les plus representees, variables d'un pays a l'autre. Trois filles ont developpe une puberte precoce. Le developpement psychomoteur est globalement satisfaisant; des anomalies ont ete notees 15 fois, representant 21,2 % des cas. Conclusion Le developpement de l'adoption internationale, avec ses pathologies propres, met en evidence l'interet du bilan de sante a l'arrivee de l'enfant en France. Ce bilan devrait comporter une evaluation nutritionnelle et generale, des examens complementaires systematiques, en particulier les serologies specifiques, et la verification de l'etat vaccinal. Il permet de proposer aux parents une prise en charge adaptee.

Le fer est indispensable a l'organisme. C'est un des nutriments dont la couverture des besoins pose des problemes dans beaucoup de pays. La carence en fer est un trouble nutritionnel repandu dans les pays en voie de developpement comme dans les pays industrialises. Cette situation tient autant a la difference de biodisponibilite du fer d'un aliment a l'autre qu'aux apports insuffisants de l'alimentation, tout particulierement aux moments ou ces besoins s'accroissent: nourrisson, grossesse, adolescence, ce que differentes etudes documentent, en particulier depuis 1986. L'OMS a developpe differents programmes pour reperer les « groupes a risqueet tenter de leur apporter un supplement en fer, eventuellement grâce a l'enrichissement en fer de produits de consommation reguliere tels que les cereales (Suede et Grande-Bretagne). Malagre cela, l'apport moyen de fer des adolescents est en regle generale clairement inferieur a ce qui est recommande.

Resume Introduction A partir de la description d’un cas recent, nous abordons les differentes causes a rechercher devant un prolapsus rectal, ainsi que leurs prises en charge. Dans notre cas, le lien avec une colite infectieuse est discute. Observation Un garcon, âge de 3 ans 8 mois, presentait des prolapsus rectaux a repetition dans un contexte de diarrhee glairosanglante, de reduction de plus en plus difficile. Alors que l’analyse des selles etait negative, la coloscopie montrait un aspect de colite pseudomembraneuse confirmee par les biopsies. Discussion Les regles hygienodietetiques sont les mesures primordiales de la prise en charge d’un prolapsus. Les colites pseudomembraneuses sont le plus souvent liees aux toxines de Clostridium difficile et font partie des formes severes de diarrhee post-antibiotique. Leur traitement repose sur une antibiotherapie par voie orale par metronidazole ou vancomycine pendant 10 j. Apres traitement, les prolapsus chez l’enfant guerissent sans recidive dans 98 % des cas. Conclusion Dans notre observation, l’absence de recidive du prolapsus apres guerison de la diarrhee grâce a l’antibiotherapie suggerait un lien de causalite avec la colite pseudomembraneuse.

Resume Introduction La maladie de Castleman est une affection lymphoproliferative de cause inconnue. Cette maladie rare, le plus souvent localisee, est benigne et survient chez l’adulte jeune. La localisation la plus frequente est mediastinale. Observation Un nourrisson de 15 mois etait adresse en consultation pour une masse laterocervicale gauche evoluant depuis l’âge de trois mois. L’examen clinique etait par ailleurs normal. L’echographie, la radiographie et la tomodensitometrie confirmaient le caractere unique de la lesion et l’absence d’envahissement locoregional. L’exerese chirurgicale trouvait un nodule comportant histologiquement de nombreuses structures pseudo-folliculaires. Ces structures riches en mitoses etaient disposees de facon concentrique autour d’un vaisseau et possedaient en peripherie des petits lymphocytes organises en couronne. Cet aspect histologique correspondait a une maladie de Castleman dans sa forme hyaline vasculaire. Une recidive locale survenait a 2 reprises, 2 ans et 8 ans plus tard, traitee a chaque fois par une nouvelle exerese chirurgicale dont l’histologie etait comparable a la premiere. Discussion La maladie de Castleman a rarement ete observee chez le nourrisson. La localisation cervicale quel que soit l’âge est encore plus rare que la forme mediastinale. Les examens complementaires sont peu contributifs et renseignent essentiellement sur le caractere isole ou multicentrique. L’exerese chirurgicale etait justifiee par l’incertitude diagnostique et le risque de compression. Le diagnostic est anatomopathologique. Les recidives ont rarement ete decrites dans la litterature et posent le probleme d’une transformation maligne possible apres plusieurs recidives.

Resume Sur la base d'etudesepidemiologiques demontrant son efficacitedans la prevention de la mort subite du nourrisson (MSN), la position dorsale ou laterale pendant le sommeil est recommandee pour tous les nourrissons en dehors de situations medicales particulieres. Le reflux gastroœsophagien (RGO) constitue une situation particuliere oula position proclive ventraleâ30° a fait la preuve de son efficacitetherapeutique. La conference de consensus considere que ce traitement positionnel du RGO ne doiteˆtre envisageque dans les circonstances oule benefice attendu apparait superieur au risque de MSN qu'il induit. La position en proclive ventral avec orthostatisme de 30° ne doit paseˆtre un traitement de premiere intention du RGO non compliquedu nourrisson et du nouveau-neaˆterme, mais elle reste un deselements du traitement dans les cas resistants aux prescriptions dietetiques et medicamenteuses.

Resume Des tumeurs testiculaires bilaterales peuvent compliquer l'evolution d'une hyperplasie congenitale des surrenales (HCS) insuffisamment controlee par le traitement hormonal. Observations. - Deux adolescents ont ete traites pour une HCS secondaire a un deficit en 21-hydroxylase. Ils ont developpe des tumeurs testiculaires a l'âge de 16 et 17 ans, respectivement. L'HCS chez les deux patients etait mal controlee, comme en temoignaient les controles hormonaux. Ceite tumeur a partiellement regresse chez le premier patient apres renforcement du traitement hormonal mais a persiste inchangee chez le second patient en depit d'une normalisation des concentrations de 17-OH progesterone et de l'activite renine plasmatique. Conclusion. - La surveillance echographique des testicules devrait etre systematique chez tous les garcons atteints d'hyperplasie congenitale des surrenales puisque les signes echographiques sont plus precoces que les manifestations cliniques. La dependance de ces tumeurs a l'ACTH necessite une intensification du traitement hormonal afin d'obtenir une regression tumorale et d'eviter la complication majeure qui est l'infertilite.

Resume La constipation terminale avec ou sans encopresie chez l'enfant s'accompagne souvent de perturbation des mecanismes de la defecation mise en evidence par la manometrie anorectale. Ces mecanismes peuvent etre reeduques par biofeedback. Population et methodes. — Ces anomalies manometriques ont ete constatees chez 26 enfants constipes avec ou sans encopresie. Tous ont beneficie d'une reeducation en biofeedback associee a une prise en charge conventionnelle comportant des mesures d'hygiene et un traitement medicamenteux. Resultats. — Les principales anomalies manometriques etaient un asynchronisme abdominopelvien avec contraction paradoxale du sphincter externe lors des efforts de poussee, une augmentation de la sensibilite rectale et une diminution de l'amplitude du reflexe rectoanal inhibiteur. Seize enfants ont gueri ou ont ete tres ameliores par cette prise en charge, deux ont rechute dans un delai de 6 a 12 mois et cinq ont ete consideres comme des echecs. Trois patients ont ete perdus de vue apres la derniere seance de biofeedback. Conclusion. — Ces resultats confirment les donnees de la litterature; le biofeedback est un aspect interessant de la prise en charge de ces enfants. Son benefice propre par rapport au reste de la prise en charge meriterait d'etre evalue.

Congenital glucose-galactose malabsorption (CGGM) is a rare autosomal recessive disorder, which presents as a protracted diarrhea in early neonatal life. We describe the clinical history, diagnostic evaluation, and management of 7 children with CGGM in western France. There were 4 girls and 3 boys from 5 families, born between 1984 and 2010. The principal complaint was a neonatal onset of watery and acidic severe diarrhea complicated by hypertonic dehydration. The diarrhea stopped with fasting. In 2 cases, the family history supported the diagnosis. In the other cases, elimination of glucose and galactose (lactose) from the diet resulted in the complete resolution of diarrhea symptoms. In 2 cases, the H2 breath tests were positive. In 2 cases, the HGPO or oral glucose tolerance test (OGTT) demonstrated an abnormal curve with glucose and a normal curve with fructose. DNA sequencing was not used. When glucose and galactose were eliminated from the diet, the infants had normal growth and development. In conclusion, CGGM is a rare etiology of neonatal diarrhea; however, the diagnosis is easy to make and the prognosis is excellent.

Esophageal varices (EV) are a complication of cystic fibrosis-associated liver disease. Esophagogastroduodenoscopy (EGD) is currently used to diagnose varices but is invasive for pediatric patients. The goal of this study was to explore the relationship between transient elastography (FibroScan®) and the presence of EV in patients with liver disease defined by clinical, laboratory, sonographic, and/or endoscopic criteria.18 patients with cystic fibrosis underwent EGD and transient elastography. 12 patients had EV.Patients with EV had higher FibroScan values than those without varices with median values of 22.4 kPa (14.4-30.4 kPa) vs. 7.9 kPa (4.4-13.7 kPa) (p=0.01). Using a threshold of 12 kPa, four of six patients without EV would not have needed EGD.Elastography should be recommended for all cystic fibrosis patients with liver disease to follow its progression. A prospective study is needed to define an elastography threshold value that predicts the presence of EV.

AIM: This study aimed to test the efficacy of mesalazine in maintaining remission in pediatric Crohn's disease (CD) following successful flare-up treatment. METHODS: In this double-blind, randomized, placebo-controlled trial, 122 patients received either mesalazine 50mg/kg per day (n=60) or placebo (n=62) for one year. Treatment allocation was stratified according to flare-up treatment (nutrition or medication alone). Recruitment was carried out over two periods, as the first period's results showed a trend favoring mesalazine. Relapse was defined as a Harvey-Bradshaw score more than or equal to 5. Time to relapse was analyzed using the Cox model. RESULTS: The one-year relapse rate was 57% (n=29) and 63% (n=35) in the mesalazine and placebo groups, respectively. We demonstrated a twofold lower relapse risk (P

Human metapneumovirus (hMPV), a recently identified respiratory virus, is a leading cause of acute respiratory tract infection in children during winter. The aims of this study were to outline epidemiological and clinical presentations of hMPV infectious diseases in young children.A prospective study was conducted from November 2007 to April2008 in children under 2 years of age admitted to the University Children's Hospital of Tours, France, for acute respiratory infection. Nasopharyngeal aspirates were systematically tested for several respiratory viruses. Epidemiological and clinical characteristics of hMPV-infected children were compared to those of patients with respiratory syncytial virus (RSV) and other viral (OTH) infections.A total of 374 children were enrolled in this study. Viral investigations detected 22 (6 %) hMPV infections, 177 (47 %) RSV infections, and 175 (47 %) presumed or demonstrated other viruses. The hMPV infection had a seasonal peak in December, similar to RSV, and was uncommon after January. Most of the patients infected with hMPV were under 1 year of age and bronchiolitis was the predominant diagnosis in 90 % of these patients with clinical symptoms of a lower respiratory tract infection. The severity of the disease, estimated from the requirement of respiratory or nutritional assistance, was similar to those of RSV patients, but was higher than those in the OTH group. hMPV was more frequently detected in patients with chronic pathology, such as bronchopulmonary dysplasia, congenital heart defect, or neuromuscular disorders, and in patients who had been previously admitted for bronchiolitis.These results highlight that hMPV plays an important role in seasonal acute respiratory tract infections in children during winter, with a severity similar to RSV infections.

Study Objectives The objectives of the study were to present our institutional experience of idiopathic chylothorax in children and to propose therapeutic strategies. Design This was a retrospective, single-center study. Patients Patients were 6 children (4 boys, 2 girls) presenting with an idiopathic chylothorax diagnosed from the presence of a chylous pleural effusion with triglycerides greater than 1.2 mmol/L and a cellularity greater than 1000 cells/mL with a predominance of lymphocytes. Results Median age of onset was 7 years (range, 2-14 years). Initial symptoms included cough (n = 4), tachypnea (n = 4), asthenia (n = 5), abdominal pain (n = 2), and bronchitis (n = 1). Chest radiography showed 2 left, 2 right, and 2 bilateral pleural effusions. Serum biology assessment was normal in all children. Respiratory function assessment at diagnosis revealed a decrease in functional residual capacity in 3 children and a decrease in lung diffusing capacity in 2 children. Initially, all patients received a medium-chain triglyceride diet for 29 months (range, 10-50 months). Total parenteral nutrition was required for 4 patients (for 1-4 months), and somatostatin was tried in one child. Two children required pleuroperitoneal shunting, bilateral in one case. During the follow-up (median duration, 6 years; range, 2-16 years), chylothorax stabilized in all patients and 5 patients were able to return to a normal diet. Conclusion A medium-chain triglyceride diet associated in some cases with total parenteral nutrition may stabilize idiopathic chylothorax in children. In cases where conservative treatment has failed, pleuroperitoneal shunting may be useful.

ACROLIMUS (FK 506) is a macrolide antibiotic derived from the fungus Streptomyces tsukubaensis .I n vitro studies have shown that its immunosuppressive potency is 50 to 100 times higher than that of cyclosporine (CsA). This new drug (Prograf) opened up very interesting prospects in the prevention and curative treatment of acute or chronic steroid-resistant rejection occurring after transplantation of solid organs. Tacrolimus is usually well tolerated. The side effects are similar to those of CsA (nephrotoxicity, hypertension, neurotoxicity, diabetes) but less frequent. 1 Tacrolimus induces less hypertension than CsA, which permits reduction of antihypertensive treatments. In view of the higher incidence of hypertension in young transplant subjects, tacrolimus has an advantage over ciclosporine in this population. 2 The dosage for adults is between 0.1 and 0.3 mg/kg/d, taken in two separate doses. The doses required to obtain blood concentrations between 5 and 15 ng/mL are usually higher in children than in adults. We report a case of accidental intoxication by tacrolimus in a young infant having undergone liver transplant. There was a favourable outcome in spite of the high amount ingested.

Starting from a recent clinical case, we present the different causes of rectal prolapse and their specific treatments. In this case, the relation to infectious colitis was questionable.This 3-year-8-month-old boy had repetitive rectal prolapses with phlegmy and bloody diarrhea, with reduction increasingly difficult. Stool analysis was negative but pseudomembranous colitis was found with coloscopy and was confirmed by biopsy.Hygienic and dietary measures are the first steps in the treatment rectal prolapse. Pseudomembranous colitis, often related to Clostridium difficile toxins; is a severe form of postantibiotic diarrhea. Its treatment is based on oral antibiotic therapy with metronidazole or vancomycin for 10 days. Rectal prolapsus in children is cured without recurrence in 98% of cases.In the case reported herein, rectal prolapse did not recur after diarrhea recovery with antibiotic therapy, suggesting a causative link with pseudomembranous colitis.

Pediatric non hypertrophic pyloric stenosis (NHPS) are uncommon. Their causes and treatments are debated.Retrospective review of all cases of NHPS from 3 pediatric surgery services during the period 1984-2002.Six children, aged 17 months to 15 years, underwent surgery for NHPS. Clinical symptoms, food vomiting and loss of weight, were present for several weeks before the diagnosis of NHPS was made. The diagnosis was peptic stenosis in 3 cases and has not been established in 3 cases. Search for Helicobacter pylori was negative in all cases. Failure of specific medical treatment and endoscopic dilatations led to pyloric resection in 3 cases and pyloroplasty in 3 cases. Post operative course was uneventful with normal oral feeding and normalisation of weight status. Histologic data were aspecific. No recurrence was observed.We discuss the origin of the pyloric stenosis, regarding clinical, operative and pathological data: were the stenosis the cause or consequence of peptic ulcer? Peptic disease is always advocated, but difficult to prove and may be excessively incriminated. Late symptomatic congenital and acquired idiopathic pyloric stenosis should be recalled. In all cases of proved pyloric stenosis, after failure of medical and endoscopic treatment, a simple surgical procedure (pyloroplasty) associated with medical treatment seems to be effective.The diagnosis of NHPS should be suspected in a child with food vomiting and loss of weight if his age is not concordant with hypertrophic pyloric stenosis. Upper gastro-intestinal series and endoscopy are diagnostic. The precise cause of the stenosis is more difficult to asses. When the medical treatment fails, a pyloroplasty is usually curative.

"Air swallowing" described as being part of functional gastrointestinal disorders in "Rome criteria" in 1999 is often misdiagnosed, particularly in non-mentally deficient children.To recognize "air swallowing" child and to describe any progress according to the treatment.This retrospective study reports 13 cases of children without mental deficiency or neuromuscular disease. Clinical elements and precise histories are detailed and we have contacted consulting doctors or families for news.Ten boys and 3 girls, from 2,5 years to 10 years old, were referred for long lasting pain or abdominal distension. Numerous laboratory investigations were always normal. Diagnosis relied upon the observation of air swallowing and X-Rays views of gastric distension. Air swallowing was observed 7 times, 9 children had twitches and 3 language troubles. In 10 cases, X-rays showed gastric and colic distension. Three children have Chilaïditi syndrome. Favourable results followed in 12 cases after an average of 28 months of treatment. One case was lost for follow-up. Treatment was long, often disappointing and required the intervention of a psychiatrist, a paediatrician and (temporarily) a speech therapist.Pathological childhood aerophagia is often underdiagnosed and deserves to be better known by paediatricians, psychiatrists and surgeons. A late diagnosis leads to many negative results and causes anxiety. An early diagnosis should lead to a multidisciplinary care.

Castleman's disease is a lympho-proliferative disease of unknown cause. This rare disease, usually localized, is benign and develops in the young adult. The predominant localization is mediastinal.A 15 month-old infant was referred for a left latero-cervical mass that had developed since the age of 3 months. Other than this, the clinical examination was normal. Sonography, x-ray and tomodensitometry confirmed the unique nature of the lesion and the absence of loco-regional invasion. Histology following surgical exeresis found a nodule with multiple pseudo-follicular structures. These mitosis-rich structures were arranged concentrically around a vessel and were bordered by small lymphocytes forming a crown. This histological aspect corresponded to Castleman's disease in its vascular hyaline form. Local recurrence was reported twice, 2 and 8 years later and was treated each time with surgical exeresis. Histological examination was always similar to the first.Castleman's disease has rarely been reported in infants. The cervical location, at whatever age, is far rarer than the mediastinal form. Supplementary examinations are not always of interest and basically provide information on the isolated or multicentric nature. Surgical exeresis was justified because of the diagnostic doubts and the risk of compression. Diagnosis is based on anatomopathology. Relapses have rarely been described in the literature and raise the question of the potential malignant transformation after several relapses.

To estimate the burden of hospitalized infectious gastroenteritis of children younger than 5 years of age and associated costs.We analyzed 1997 hospital discharges with a primary diagnosis of gastroenteritis or a secondary diagnosis of gastroenteritis with gastroenteritis symptoms or complications as primary diagnosis and compared the deaths with those of the national mortality data.Gastroenteritis was associated with 51,125 hospitalizations which accounted for 11.4% of hospitalization discharges for this age group and an annual rate of 1,385 per 100,000 children5-year-old. Most gastroenteritis (56%) were registered as "probably infectious", 36% as "viral" (43% of which were coded "rotavirus") and 8% as "bacterial" (of which 60% were coded "Salmonella"). The seasonal peak was winter for rotaviral, viral and "probably infectious" gastroenteritis, summer for those related to salmonellosis. Incidence increased inversely with age: 3606/100,000 infants1-year-old, 257/100,000 4-year-old children. Complications (especially dehydration) were observed in 21% of viral gastroenteritis and 17% of bacterial gastroenteritis. At least, 14 deaths were found in both hospital discharge and mortality data. The mean duration of stay (3.2 days) was significantly higher in infants1-year-old, viral etiology, association with complications or bronchiolitis. The costs of hospitalization could be estimated to 62 million Euros.Our results are similar to those obtained in other developed countries. Despite variations in encoding the discharge reports, data has proven to be effective to describe national trends for this health event. Our study indicates that the public health burden and economic impact of prevention and control measures can be monitored through hospital discharge surveillance.

Four cases of Crohn disease (CD) were diagnosed between 1990 and 1997 in children living in the same area in the Indre-et-Loire district (county A). The local population raised the hypothesis that an environmental source could be responsible for these cases. An investigation was carried out to assess the excess of cases and to identify their possible determinants.A case was defined as any new case of CD (European definition) that occurred between 1989 and 1998 in county A or in the adjacent county of the Vienne district. Case finding was done by contacting all hospital services, pediatricians and gastro-enterologists in the 2 districts. A Standardized Incidence Rate (SIR) was calculated for sex and age in adults and children using data from the Inflammatory Bowel Registry of northern France. Statistical significance was assessed by a test taking into account small samples. A descriptive study was carried out among pediatric cases.Four pediatric cases and four adults were identified, all from county A. The SIR in adults was 0,45 (95% Confidence Interval [95% CI: 0.12-1.15). In children, the global SIR was 8,51 (95% CI: 2.29-21.79) and 19,05 (95% CI: 5.12-48.70) in county A. The descriptive study did not identify any exposure leading to a possible hypothesis concerning the origin of the cases.This study has shown that the incidence of CD among children of the area was greater than observed in France and has permitted to establish a close relationship with the affected families, to implement a social approach to the problem and to limit rumors. It illustrates the interest of a systematic stepwise approach, which takes into consideration the anxiety of the local community. Cluster investigation should be integrated as part of the public health agencies activities. However, in most cases, despite an excess risk, results do not allow to conclude in terms of etiology.

Excretion of fecal short-chain fatty acids (SCFAs) may indicate changes in colonic or colonocyte metabolism. The aim of this study was to detect the influence of gestational age and feeding practices on SCFA concentrations and profiles in healthy preterm infants.A total of 198 fecal samples (28 infants) were collected from 8 to 21 days of age from 3 groups of preterm infants born at 33 to 37 weeks of gestation and fed either breast milk (group I) or Nutramigen, a lactose-free formula (group II), and extremely preterm infants born before 33 weeks of gestation and fed breast milk (group III). Total SCFA concentrations and SCFA profiles were analyzed using a gas chromographic (GC) procedure.Total fecal SCFA excretion did not differ significantly between group I (mean, 24.0 micromol/g; range, 1.3 to 118.8 micromol/g) and group II (mean, 23.0 micromol/g; range, 3.0 to 73.3 micromol/g). Conversely, differences occurred between SCFA profiles and became significant after day 17. The main differences were a significant increase in the butyric acid concentration (12% versus 30%) with group II. Compared with group I, fecal SCFA concentrations were 3.2-fold lower (7.4 micromol/g; range, 0.3 to 37.4 micromol/g) in group III with no significant changes in the profiles.Fecal SCFA excretion may vary in absence of any digestive disease. During this study, in terms of gestational age, total SCFA concentrations were significantly lower in extremely premature infants compared with infants born less premature, despite their known higher deficiency in intestinal lactase activity. In terms of diet, the absence of lactose did not lead to a decrease in colonic fermentation and induced changes in SCFA patterns. These new baseline data may offer clues to further development of milk formulas.

Acute bronchial mucosal sloughing related to Toxic Epidermal Necrolysis (Lyell syndrome) is widely reported in literature. On the contrary severe respiratory involvement is rare in post-infectious or toxic Epitheliolysis (Stevens-Johnson syndrome). There is no well-known predictive sign of bronchial epithelium involvement. An 18-year-old patient was admitted for Stevens-Johnson syndrome related to sulfasalazine (salazosulfapyridine). There were no respiratory signs. An acute respiratory failure occurred 36 hours after from admission due to an obstructive and desquamative necrosis of the tracheobronchial epithelium. We purpose that a fiberoptic laryngoscopy should be performed even in non-dyspneic patients suffering from Stevens-Johnson syndrome if hypersecretion is present. Fiberoptic bronchoscopy can be helpful in these cases.

The study was carried out by the GFHGNP to determine the annual incidence of symptomatic celiac disease in children.The diagnostic criteria were: symptomatic patients diagnosed under 15 years of age during 1996, villous atrophy and positivity of antigliadin and/or other antibodies. Cases were collected from referral centers, general hospital pediatric departments and private pediatricians with endoscopic practice.The study involved roughly half of the French pediatric population in 41 out of the 95 French districts. In all, 124 patients were collected: 76 girls and 48 boys. By geographical areas, in 30 districts where collection of data was complete which counted 186,285 births, the yearly incidence varied from 1/1731 births to 1/3110. (0.57@1000 to 0.32@1000). On the whole there were 77 cases i.e. an annual incidence of 1/2419 or 0.41@1000 (confidence interval 95%: 0.32 to 0.50@1000). Lower incidences were observed in the district of Paris: 1/4865 (0.21@1000) and Lyon: 1/3310 (0.27@1000). Those lower incidences could be explained by the difficulties of collecting the data in the biggest urban areas. The first signs occurred before one year of age in 73% of the cases, during the second year of life in 20.5% and after 3 in only 6.5%. The diagnosis was made before 2 years of age in 77% of the cases and after 3 in only 13%. In order of frequency symptoms were: failure to thrive (80%), diarrhea (59%), anorexia (59%), abdominal distension (57%), weight under 2 standard deviations (43%), short stature (43%).Compared with previous studies in two French districts between 1975 and 1990, the annual incidence of symptomatic celiac disease in children appears to be on the rise. The usual clinical signs continue to be observed.

The number of children of foreign origin adopted in France has increased in the past 15 years. The aim of this study was to analyse distinctive features and medical problems associated with international adoption.The files of 68 foreign-origin adopted children who attended or were admitted to the Medical and Nutrition Unit of the Pediatric Hospital in Tours between January 1st 1986 and December 31st 1997, were studied retrospectively. Various parameters were analysed: age at first consultation, age at adoption, country of origin and health problems, especially nutritional status, infectious diseases, growth and development.In the majority of cases, children were adopted before 12 months of age (61.2%), particularly before six months of age (49.3%). The children came mainly from Africa and countries in the Indian Ocean (48.5%), and from Southeastern Asia (33.9%). Malnutrition was frequent in children from Africa. Twenty-one children (30.9%) presented with severe malnutrition characterized by weight less than the mean-2SD for height and required hospitalization. No children had congenital hypothyroidism, hyperphenylalaninemia, nor were HIV positive. Some patients had infectious diseases: 11 Hepatitis B, four congenital syphilis and six tuberculosis, with favorable outcomes after treatment. The other most frequent diseases were acute diarrhea, chronic diarrhea, intestinal parasites, and scabies, varying according to countries. Three girls adopted from southern Asia developed precocious puberty. Growth and psychomotor development were satisfactory overall, but abnormalities were observed in 15 children (22.1%), which is higher than in the general population.The expansion of international adoption with distinctive diseases proves the importance of a checkup as soon as possible after the arrival of these children in France. This checkup has to include nutritional and general evaluation and supplementary tests, especially for specific serology and vaccination status. Following this, it would be possible to propose a suitable follow-up to the adoptive parents.

Our aim was to collect a large number of cases to characterize clinical presentation, outcome, and prognosis of chronic intestinal pseusoobstruction in children. We conducted a retrospective multicenter study that included children treated for chronic intestinal pseusoobstruction defined as recurrent episodes of intestinal obstruction with no mechanical obstruction, excluding Hirschsprung's disease. In all, 105 children, 57 boys and 48 girls, were studied, including five familial forms. Prenatal diagnosis was made in 18 patients. Eighty patients were less than 12 months old at onset; the disease began at birth for 37 patients. The most frequent signs were abdominal distension, vomiting, and constipation. Megacystis was noted in myopathies (7 cases), neuropathies (10 cases) and unclassified forms (13 cases). For all but three cases (two patients with CMV infection, one with Munchhausen-by-proxy syndrome), the associated diseases and disorders could not account for chronic intestinal pseusoobstruction as a secondary disorder. At least one full-thickness biopsy from the digestive tract was studied for 99 patients. The diagnosis recorded was visceral neuropathy in 58 cases, visceral myopathy in 17 cases, and uncertain or normal biopsy results in 24 cases. Seventy-eight children were fed intravenously, and only 18 were able to be fed orally throughout their illness. Seventy-one patients underwent surgery during their illness, and 217 surgical procedures, a mean of 3 per patient, were performed. Ostomy was the most performed procedure. Follow-up continued in 89 patients for 3 months to 16 years (mean 85 months). Forty-two patients were still fed by parenteral (39 patients) or enteral nutrition (3 patients) at the time of the study. Eleven patients died between the age of 1 month and 14 years 7 months.

Buts du travail La pratique d’un sport est souvent confondue avec l’activite physique et proposee aux adolescents en surpoids chez qui les activites sedentaires sont maintenant prises en compte. Le but de ce travail est d’evaluer la place de l’activite physique dans la vie des adolescents et les variations de celle-ci en fonction d’une eventuelle pathologie. Methodes employees Il s’agit d’une etude prospective, menee a partir d’un questionnaire remis aux adolescents de 11 a 19 ans, sur une periode de 4 mois (de septembre 06 a Janvier 07). Ce question naire,anonyme, renseignait sur la raison du passage a l’hopital et de facon quantitative sur les loisirs, les modes de deplacements quotidiens, les motivations pour une activite physique ou sportive ou les raisons de non pratique ainsi que les habitudes parentales, l’IMC et en cas de grignotage, leur frequence et rythme. Resultats 339 questionnaires sur 344 ont pu etre exploites, 53.4 % de filles, moyenne d’age de la population 13 ans, 15.9 % en surpoids ou obese. 80.1 % desjeunes interroges se deplacent principalement en voiture ou bus et 46.1 % pou r se rendre au college ou lycee contre 21.9 % en velo.61.6 % sont inscrits en club ou association,39.2 % font de la competition. L’activite est un plaisir dans 92.3 % des cas, un choix 87.6 %, destinee a controler le poids 41.2 %. 1/3 des parents ont une activite physique reguliere. Les loisirs etaient dans les deux sexes dominees par la television, l’ecoute de la musique, la lecture, les jeux video et Internet. L’absence d’activite physique etait expliquee par le manque d’envie 47.1 %, de temps 37.5 mais ces % comme ceux des motivations etaient tres differents dans le cas de surpoids (desir de maigrir 72.7 %, temps TV 2.2 h/j contre 1.6 h en cas d’IMC normal). En cas de maladie chronique les jeux de societe et le desir de rencontre prenaient une place significative. Conclusion Malgre des biais imputable au mode de recrutement des adolescents interroges cette etude montre que les adolescents consacrent 5 fois plus de temps a des activites sedentaires y compris la lecture que physiques ; ceci s’accentue chez les jeunes en surpoids. L’implication parentale est un facteur influant sauf en cas de surpoids. Bien sur la maladie entrave ces reponses y compris par manque de temps.

We studied the effect of docosahexaenoic acid (DHA) supplementation of infant formulas on fatty acid composition of blood phospholipids in term infants. Two fish oil supplemented formulas containing 0.45 wt% DHA and high (0.35%) or low (0.10%) eicosapentaenoic acid (EPA) were fed for 42 days and compared with a standard formula and breast milk. Infants fed supplemented formulas and breast milk had similar time-dependent changes for DHA from birth to day 42, i.e., slight decreases in plasma phospholipids and erythrocyte phosphatidylcholine and no change in erythrocyte phosphatidylethanolamine. Low-EPA formula prevented EPA accumulation but did not limit the significant decrease in arachidonic acid (AA) noted in infants fed high-EPA formula. These results suggest that term infant formulas should be supplemented with DHA-rich EPA, low fish oil and AA to achieve a fatty acid status in formula-fed infants similar to that of breast-fed infants.

Based on results of epidemiological studies, dorsal or lateral sleeping positions are now recommanded in the prevention of sudden infant death syndrome (SIDS). This raises an ethical question about the attitude towards the ventral positioning therapy for gastroesophageal reflux (GOR). The consensus conference considers that the ventral position should only be recommanded in GOR when the benefit appears to outweigh the risk of SIDS that it induces. The conference proposes that for infants with simple uncomplicated reflux, sleeping in the prone position should not be introduced in the first line treatment. Prone positioning should be restricted to complicated cases resistant to dietary and medical measures.

Elastosis perforans serpiginosa frequently occurs in trisomy 21. Usually no cause is found. We report a case in which vitamin deficiency may have contributed to the development of skin lesions.A 11-year-old girl with trisomy 21 developed papulokeratosic eruptions with a linear serpiginous distribution, predominantly involving the lower limbs. On ultrastructure examination, numerous elastic fibers penetrated the epiderma and the baseline membrane had disappeared. The patient also had a totally patent atrioventricular canal with hypoplasia of the left ventricle and cardiac liver. Serum vitamin A level was low (0.56 mumol/l, normal1.55). Acitretine was prescribed at the dose of 0.5 mg/kg/day but had to be stopped 2 months later due to elevated liver enzyme levels despite a clear clinical improvement.This association between elastosis perforans serpiginosa and vitamin A deficiency, observed here in a child with trisomy 21, has never been reported by others. Vitamin A deficiency might aggravate the skin lesions. In our case, there was probably a relationship between the vitamin A deficiency and the cardiogenic liver disease. The keratoregulatory effect of vitamin A on elastic tissue is less well known. Treatment with retinoids provided clinical improvement but had to be stopped due to hepatotoxicity. Parenteral vitamin A would be an interesting alternative but the risk of side effects would theoretically be greater than with oral retinoids.

We report a case of type III laryngotracheoesophageal cletf. To our knowledge, this case represents the fourth case repaired. Survival was 22 months. The surgical repair we describe here is the first condition to survival. Close collaboration initially with anesthesiologists, then with the intensive careteam unit is required for post-operative management. Moreover, in addition to the surgical trauma, post-operative management is often long with tracheotomy and gastrostomy leading to a corporeal schema disorder in swallowing and respiration. Early psychologic assistance is indispensable to a good functioning of the aero-digestive region.

The objective of this study was to quantify the deposition in the lung of a Colistine aerosol generated using a pneumatic nebuliser (Pari LL(R) equipped with a Pari Master, Pari, Germany) and to compare this with the results obtained with an ultrasonic nebuliser (DP100, DP Medical, France) in four subjects suffering from cystic fibrosis being colonised with Pseudomonas aeruginosa. To quantify the pulmonary deposition of the aerosols we have used an indirect isotopic method which consists in assimilating the kinetics of the molecules studied with a serum albumin tagged with Technetium 99m (Tc99mm) and added to a preparation of Colistine. We have previously verified that the addition of a radioactive tracer does not change the normal distribution or dynamics of the medication within the aerosol and the radioactive counter linked to the tracer reflects the mass of the medicament. The pulmonary deposition was expressed as a percentage of the nebuliser dose. A regional analysis of the deposition (central, peripheral, superior and inferior) was carried out and in central deposition compared to the periphery (C/P) and superior compared to inferior (S/I) were calculated. With the DP100 nebuliser the pulmonary deposition of the aerosol was very reproducible from one patient to another, varying only between 9.5 to 14 percent of the nebuliser dose. With the Pari LL the fraction deposited varied more from one patient to another from 5.6 to 27% of the nebuliser dose. In three of four patients, the pulmonary deposition was superior or equal to that obtained with the ultrasonic nebuliser. The patients whose pulmonary deposition was inferior, using the pneumatic nebuliser, was the youngest in the group and co-ordinately poorly the triggering of the nebuliser with the beginning of inspiration. With the two nebulisers, the pulmonary deposition of Colisitine was very heterogeneous throughout the pulmonary parenchyma. The mean of the ratio C/P and S/I obtained in all four patients was identical (1.35 an 0.86 respectively), indicating a deposition of the aerosol which was predominantly central and inferior but was distributed equally in the peripheral parts of the lung. Pneumatic nebulisers offer a reliable alternative notably for domiciliary treatment for Colistine aerosols in patients suffering from cystic fibrosis. In younger patients who have not yet acquired good motor co-ordination, nebulisers which function continuously or are triggered by inspiration seem to be the preferred choice.

Testicular tumors have been reported in boys and adolescents with congenital adrenal hyperplasia (CAH) inadequately controlled by hormonal therapy.Two adolescents were treated for CAH due to 21-hydroxylase deficiency. They developed hyperplastic nodular testes at the age of 16 and 17 years, respectively. CAH in both was inadequately controlled as confirmed by hormonal studies. The tumors regressed after adequate steroid therapy in the first patient but persisted in the second patient despite normalization of 17-OH progesterone and plasma renin activity.Testicular ultrasonography should be systematic in all male patients with CAH since radiological findings are earlier than clinical manifestations. The ACTH-dependent tumors require intensification of hormonal therapy in order to obtain tumoral regression and to prevent infertility.

Chronic constipation with or without encopresis is often associated with abnormal defecation dynamics evidenced by manometric study and possibly manageable with biofeedback treatment.Twenty-six children more than 5 years of age suffering from constipation with or without encopresis for at least 6 months were treated with biofeedback plus lactulose; 15 of them were also given psychiatric attention. Pressure recordings from the internal and external sphincters in response to transient balloon distension of the rectum were obtained in all patients as did the recto-anal inhibitory reflex and the rectal sensitivity.Sixteen patients were considered as definitely cured or improved with this management; two others had relapses 6-12 months later and five were not improved; the three remaining patients were lost for follow-up.As already reported, biofeedback treatment represents an interesting role in management of such children.

Oral administration of vitamin K to neonates is quite satisfactory for preventing hemorrhagic disease of the newborn. The aim of this study is to test efficacy of a micellar solution of vitamin K at birth.Thirty full term infants, exclusively breast-fed during the first month of life, were included in this study. Seven of them (control group Cos) were given oral supplementation with 5 mg vitamin K1, cremophor; 15 other infants were given oral supplementation with 3 mg micellar solution of vitamin K1 (group MMos) and 7 were given an intramuscular injection of 1.5 mg micellar solution of vitamin K1 (group MMim). Prothrombin time activity and plasma vitamin K concentration were measured in the cord blood, 24 +/- 12 hours and 1 month after supplementation.No hemorrhage was seen and tolerance to vitamin K was good in the 3 groups. Mean prothrombin time activity was 54% in the cord blood, around 55% and 75%, 24 hrs and 1 month after supplementation, respectively; only one infant had low value (41%) by 1 month despite normal plasma vitamin K concentration. Two infants had low plasma vitamin K1 concentration by the second control despite normal prothrombin time activity; one belonged to the MMos group and the other to the Cos group. Mean values of plasma vitamin K1 concentration were higher by 1 month in the MMos group.A unique dose of micellar solution of vitamin K given orally at birth seems effective to prevent hemorrhagic disease.