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Introduction Von Hippel–Lindau disease (VHL) is a syndrome of familial predisposition to the development of malignant and benign tumours, due to mutations in the VHL tumour suppressor gene. Pheochromocytoma is a tumour that develops in the adrenal gland, rare in pediatric age, and may be associated with genetic abnormalities including mutations in the VHL gene. Systematic screening of pheochromocytoma in children carrying a VHL mutation has been proposed. However, some VHL patients who have been screened may develop symptoms associated with pheochromocytoma despite screening. Here, we report on such a case. Clinical case A 13-year-old boy, known to be a carrier of a mutation of the VHL gene, undergoing annual screening, was admitted to our hospital for clinical symptoms related to a right adrenal pheochromocytoma discovered on abdominal imaging. After hemodynamic stabilisation, the pheochromocytoma was surgically resected. Histology confirmed the diagnosis of pheochromocytoma. The postoperative care was simple. The event-free period is currently 2 years. Discussion The present case has led us to reflect on the French and international screening strategies for pheochromocytoma in children carrying a mutation of the VHL gene. Between 2013 and 2018, six different recommendations were proposed for pheochromocytoma screening in secondary prevention for children with a VHL mutation, with variability regarding the age of onset and complementary examinations to be carried out. Despite the existence of these recommendations, our case demonstrates that a pheochromocytoma can develop by escaping well-performed screening. The role of early abdominal imaging should be redefined to improve the efficiency of screening. Conclusion The discovery of a pheochromocytoma in a child must be systematically investigated for an underlying genetic cause. In the particular case of children carrying a mutation of the VHL gene, annual abdominal imaging should be included in the pheochromocytoma screening protocol from the age of 5 years.

Given the high variability and fragility of the thoracic duct, good knowledge of its anatomy is essential for its repair or to prevent iatrogenic postoperative chylothorax. The objective of this study was to define a site where the thoracic duct is consistently found for its ligation. The second objective was to define an anatomically safe surgical pathway to prevent iatrogenic chylothorax in surgery for aortic arch anomalies with vascular ring, through better knowledge of the anatomical relationships of the thoracic duct.Seventy adult formalin-fixed cadavers were dissected. The anatomical relationships of the thoracic duct were reported at the postero-inferior mediastinum, at levels T3 and T4.The thoracic duct was consistently situated between the left anterolateral border of the azygos vein and the right border of the aorta between levels T9 and T10, whether it was simple, double, or plexiform. It was located medially, anteromedially, or posteriorly to the left subclavian artery in 51%, 21%, and 28% of the cases, respectively, at the level of T3. At T4, it was posteromedial in 27% of the cases or had no direct relationship with the aortic arch.These results favor mass ligation of the thoracic duct at levels T9-T10 between the right border of the aorta and the azygos vein, eventually including the latter. To prevent iatrogenic postoperative chylothorax in aortic arch anomalies with vascular ring surgery, we recommend remaining strictly lateral to the left subclavian artery at the level of T3 to reach the aortic arch anomalies with vascular ring at T4.

Resume La neurofibromatose de type 1 (NF1) est une maladie genetique predisposant au developpement de tumeurs malignes et benignes. La mutation du gene NF1 entraine une deregulation de la voie de signalisation RAS-MAP-kinase aboutissant a un dysfonctionnement du controle de la proliferation cellulaire et a la proliferation tumorale. L’epidemiologie des cancers chez les enfants atteints de neurofibromatose est tres differente de celle de la population pediatrique generale, imposant une surveillance specifique et rapprochee. Le neurofibrome est la tumeur benigne la plus frequente. Elle peut etre tres invalidante selon sa localisation et sa taille. Il n’existe actuellement pas de traitement specifique pour ces tumeurs. Les tumeurs malignes les plus frequentes sont les leucemies, les rhabdomyosarcomes, les gliomes et les tumeurs malignes des nerfs peripheriques. La prise en charge therapeutique doit prendre en compte le risque de developpement de tumeurs secondaires aux traitements. Nous rapportons le cas d’un enfant ayant developpe avant l’âge de 5 ans deux tumeurs.

El tratamiento quirurgico de las anomalias del conducto peritoneovaginal (CPV) infantiles es una de las intervenciones mas frecuentes en cirugia pediatrica. Sin embargo, este procedimiento no debe trivializarse, porque conlleva un riesgo para la gonada que no es nulo, debido a la diseccion del cordon espermatico en los varones. En este articulo, se describen sucesivamente las tres anomalias principales relacionadas con la persistencia de todo o de una parte del CPV. Se trata de las hernias inguinales, los hidroceles y los quistes del cordon espermatico. El tratamiento varia entre los distintos cuadros y es sustancialmente distinto al del adulto.

Resume Le cancer medullaire de la thyroide (CMT) est rare chez l’enfant, presque toujours hereditaire, associe a une neoplasie endocrinienne multiple (NEM) 2A ou B. La survenue d’un CMT dans une NEM est quasi-systematique, ce qui conduit a proposer une thyroidectomie prophylactique en cas de diagnostic presymptomatique. En l’absence d’un diagnostic precoce, l’evolution metastatique, ganglionnaire et pulmonaire est ineluctable. Le traitement de ces formes disseminees n’est pas codifie. L’apparition recente de therapeutiques ciblees pour le gene RET , les inhibiteurs de tyrosine-kinase, a ouvert de nouvelles perspectives pour ces patients jusque-la non curables. Nous rapportons l’observation d’une enfant traitee par vandetanib a l’âge de 11 ans, sans chirurgie thyroidienne, pour laquelle l’efficacite therapeutique et la tolerance du traitement ont ete satisfaisantes sur 5 ans.

Resume Dix a quinze pour cent des enfants porteurs d’un neuroblastome presentent une extension de leur tumeur primitive dans le canal rachidien, a travers un ou plusieurs foramen intervertebraux. Soixante pour cent d’entre eux ont des signes de compression medullaire lors du diagnostic (douleurs dorsales, deficit moteur, troubles de l’equilibre, faiblesse des membres inferieurs, parapaparesie ou paraplegie, cyphoscoliose, troubles sphincteriens vesicorectaux, troubles sensoriels, incluant des douleurs neuropathiques). Il s’agit le plus souvent d’enfants jeunes, au cours des deux premieres annees de vie, qui sont porteurs de tumeurs plus souvent localisees et biologiquement favorables, justifiant un traitement peu agressif sur le plan oncologique, du fait d’un pronostic vital favorable. Il faut souligner la difficulte du diagnostic des signes neurologiques chez les jeunes nourrissons. Bien que les traitements de decompression (chimiotherapie, neurochirurgie) offrent des chances d’amelioration, voire de recuperation complete, ces patients sont globalement exposes a d’importants risques de sequelles neurologiques a long terme (deficit moteur, trouble sphincterien) ainsi qu’a des sequelles orthopediques ; ceci souligne l’importance d’etudes sur ce groupe de patients pour mieux connaitre les facteurs lies a la maladie et a son traitement qui permettraient d’ameliorer leur prise en charge. C’est dans cet objectif que le reseau SIOPEN (European Neuroblastoma Research Network) a mis en place un registre international, multicentrique prospectif des tumeurs neuroblastiques avec extension intra-rachidienne, dont l’objectif principal est de collecter prospectivement les donnees afin d’evaluer les facteurs de risque sur l’evolution neurologique et orthopedique a court et long terme. Ceci devrait permettre d’ameliorer les recommandations de prise en charge de tels patients.

Introduction Polypoid lesions of the gallbladder (PLG) are relatively common in adults, while they are very rare in children. The use of high-quality ultrasonography leads to increased detection of PLG, although less than 20 pediatric cases of primary PLG have been reported in the literature. The aim of this study was to address the experience of PLG management in children. Materials and Methods A retrospective multicenter review of children with ultrasonographically defined PLG between 2006 and 2016 was performed. The data from 12 pediatric surgery centers were compiled for this purpose. Results Eighteen patients (mean age: 10.4 ± 4.1 years) were included and managed according to each center's protocols. Cholecystectomy was performed for nine symptomatic patients. Histopathology conclusively revealed four tubular and five papillary adenomas, with a median size of 12 mm (ranging from 3 to 35 mm). Nine asymptomatic children were monitored by sonography over a 24-month (ranging from 12 to 66 months) follow-up period. The median PLG size was 7 mm (ranging from 3 to 9 mm). Two lesions disappeared after 1 and 2 years of follow-up, respectively. None of the patients developed symptoms or malignant transformation. Conclusion This report confirms appropriate use of a conservative approach with annual clinical and ultrasound follow-up for small-sized and isolated PLG in children given the absence of malignancy and potential vanishing entities. Surgical treatment should be considered in case of lesions larger than 10 mm in size or when they are associated with symptoms.

Resume Objectifs Evaluer differentes techniques chirurgicales d’ovariectomie partielle pour cryopreservation. Evaluer les consequences d’une exposition prealable aux traitements cytotoxiques sur la qualite de l’ovaire preleve. Patientes et methodes Etude observationnelle retrospective unicentrique, sur 4 ans, des femmes ayant eu une chirurgie pour cryopreservation ovarienne pour chimio ou radiotherapie a haut risque de faillite ovarienne precoce. Plusieurs techniques d’ovariectomie partielle ont ete proposees : avec clampage du pedicule vasculaire gonadique (prelevement indirect), sans clampage (prelevement direct) et a la pince agrafeuse automatique. Le tissu ovarien etait immediatement prepare pour la cryoconservation en salle d’operation. L’ensemble du prelevement etait divise en petits fragments. Pour chaque ovaire, un compte des fragments etait effectue. Un fragment etait examine afin de determiner le nombre de follicules primordiaux. Resultats L’ovariectomie et la cryopreservation ont ete realisees chez 13 patientes. Deux evenements hemorragiques sont survenus avec la technique directe, sans consequence pour les patientes. Le nombre de fragments obtenus avec les techniques indirecte et directe etait de respectivement 19 vs 15, p = 0,18 ; le nombre de follicules primordiaux etait de 38 vs 36, p = 0,87. L’agrafeuse automatique consommait trop de tissu ovarien pour etre interessante. Il y avait moins de fragments, 15 vs 20, p Discussion et conclusion La technique avec clampage vasculaire est plus sure mais sans difference sur la qualite du prelevement. Une seule cure de chimiotherapie a un impact pejoratif sur la qualite du prelevement.

Resume Le syndrome de susceptibilite mendelienne aux infections mycobacteriennes (SSMIM) est un syndrome genetique rare predisposant aux infections a des mycobacteries normalement non pathogenes pour l’homme (mycobacteries atypiques ou non tuberculeuses) et au bacille vaccinal de Calmette et Guerin (BCG), chez des enfants indemnes de deficits immunitaires classiques. Ce syndrome est lie a une alteration de l’immunite antimycobacterienne mediee par l’axe IL12/INF-γ (interleukine 12/interferon gamma), constituant un nouveau type de deficit immunitaire. Nous rapportons l’observation d’une enfant ayant presente une infection disseminee a Mycobacterium avium . Le defaut moleculaire en cause etait la presence de 2 mutations au niveau du gene IL12Rβ1 (gene codant pour la chaine β1 du recepteur de l’IL12) responsable d’un defaut d’expression, a la surface des lymphocytes T, du recepteur de l’IL12. Les mutations touchant le gene IL12Rβ1 sont les anomalies moleculaires les plus frequentes du SSMIM. A l’heure actuelle, on connait 6 genes impliques dans le SSMIM, responsables de 13 maladies genetiques distinctes, caracterisees par une grande variete de presentations cliniques. La description des bases moleculaires et immunologiques de ce syndrome a permis d’expliquer la physiopathologie de l’immunite antimycobacterienne et s’avere indispensable pour comprendre et prendre en charge ces infections.

Splenic rupture in the neonatal period is a rare condition that can be complicated by hemorrhagic shock. The symptoms are not very specific, rendering the diagnosis difficult and often delayed; sometimes only discovered at autopsy. We report five cases diagnosed in the Rhône-Alpes region of France. From these observations and from a review of the literature, the circumstances of the occurrence, the clinical signs, and the therapeutic possibilities are discussed. In the presence of severe anemia with pallor and abdominal distension, particularly in the context of a difficult birth, an abdominal ultrasound must be urgently performed and surgical management promptly considered.This pathology must be known to the neonatologist so that she/he can quickly evoke it, given that it can quickly become life-threatening. What is known: • Splenic rupture in the neonatal period is a rare condition that can be complicated by hemorrhagic shock and quickly lead to the death of the newborn. • The symptoms are not very specific, rendering the diagnosis difficult and often delayed. What is new: • This is the first publication bringing together as many clinical cases on the subject reporting in particular very serious cases to alert the clinician on this pathology and its diagnostic urgency. • We propose a clear therapeutic behavior to help the clinician in his daily practice.

Aspergillomas occur due to colonization of a pre-existing pulmonary, bronchial or pleural cavity by Aspergillus spp. Often asymptomatic, this pathology can reveal itself by recurrent haemoptysis or when bacterial superinfections occur. Aspergillomas occurring in post-traumatic cavities are rare and their management is poorly codified.A child suffered from a chest wound at the age of 13 years. Two years later, investigation of recurrent haemoptysis revealed a residual pneumatocele in the right lower lobe colonized by Aspergillus spp. Initial treatment with systemic azole antifungals was unsuccessful because of digestive and ophthalmological intolerance. Surgical treatment by right lower lobectomy was finally decided on by the multidisciplinary team. This revealed an intrabronchial foreign body of vegetal type with cellulosic reinforcement, causing a polymorphic granulomatous reaction around, and associated with a proliferation of filamentous fungi including Aspergillus fumigatus. Surgery was followed by liposomal amphotericin B treatment for three weeks with a favourable outcome.This clinical case illustrates the benefits of surgical management of post-traumatic aspergillomas, even in children, in order to eradicate the aspergillus implant and to remove any foreign body to prevent recurrence.

Carcinoid tumors are the most common endobronchial tumor in the pediatric population, and represent a rare cause of airway obstruction. The authors report two cases of boys aged 10 and 11 years old, who presented with a 12-month history of recurrent pneumonia. Bronchial endoscopy showed an endobronchial tumor. Chest CT-scan identified local extension and lung-associated lesions; octreoscan was performed to detect distant metastases. Histopathological study concluded in typical carcinoid tumor. The outcome after surgical conservative resection is uneventful with a follow-up of 7 and 26 months. Bronchial tumors must be considered in children with recurrent pneumonia or persistant respiratory symptoms, and require CT scan and bronchial endoscopy for their diagnosis.

Medullary thyroid carcinoma (MTC) is a rare cancer during childhood. MTC is sporadic in approximately 80% of cases and hereditary in 20%. When hereditary, it can be associated with other endocrine neoplasias and/or typical nonendocrine diseases, thus configuring the multiple endocrine neoplasia (MEN) syndromes. Children with clinically obvious MTC belong to MEN 2A or 2B families, related to RET mutations. The standard treatment is total thyroidectomy and central neck dissection. However, treatment of advanced MTC has not yet been standardized, even if a new tyrosine kinase inhibitor specific to RET mutation has changed the outcome of such patients. Vandetanib plays a role in the treatment of children with metastatic, locally advanced and nonoperable MTC, with good tolerance. We report the 5-year treatment of an 11-year-old patient, with vandetanib and without thyroid surgery.

Resume Le neuroblastome est la tumeur la plus frequente en periode neonatale. L'objectif de cette etude a ete d'analyser la presentation clinique, les modalites therapeutiques, et l'evolution des nouveau-nes ayant presente un neuroblastome localise (NBL). Population et methodes. – Cinquante-deux enfants traites selon des recommandations therapeutiques homogenes (protocoles NBL 90 et 94) entre 1990 et 1999 ont ete recenses. Resultats. – L'âge median au moment du diagnostic etait de 12 jours (0–28) et la decouverte a eu lieu des la periode antenatale chez 14 patients (27 %). Le siege de la tumeur etait abdominal (n = 40, dont 20 localisations surrenaliennes), thoracique (n = 8), pelvien (n = 3), et cervical (n = 1). Une amplification de l'oncogene N-myc a ete trouvee dans un cas sur les 40 evaluables. La taille de la tumeur etait inferieure a 5 cm dans 25 cas, comprise entre 5 et 10 cm dans 25 cas et superieure a 10 cm dans deux cas. Sept enfants avaient une tumeur en sablier, parmi lesquels cinq presentaient des deficits neurologiques. Un enfant est decede d'hemorragie suite a la ponction a visee diagnostique. Trente-sept patients ont ete operes d'emblee, parmi lesquels deux sont decedes de complications postoperatoires et trois ont eu une nephrectomie. Les 14 autres ont ete consideres comme inoperables et ont ete traites par chimiotherapie initiale et exerese secondaire chez 12. L'un d'entre eux est decede quelques jours apres le debut de la chimiotherapie. Au total, 48 enfants sont vivants en remission complete, dont quatre apres une evolutivite cutanee (3) ou medullaire (1). La survie globale est de 92 % avec un recul median de 46 mois (0–113 mois). Conclusion. – L'excellent pronostic des NBL justifie des indications operatoires prudentes, fondees sur des criteres anatomiques et radiologiques tres precis, en particulier chez le nouveau-ne. Une chimiotherapie adaptee au poids, realisee par une equipe experte, permet d'operer certains de ces patients dans des meilleures conditions.

Resume Objectifs. – L’invagination intestinale sur lymphome reste, pour le chirurgien pediatre, une situation delicate, rare et source de pieges aux consequences parfois lourdes. L’analyse retrospective de sept observations associee a une revue de la litterature permet de degager une conduite a tenir pratique. Observations. – Six garcons et une fille, âges de trois a quinze ans, ont presente un lymphome revele par une invagination intestinale. Tous les enfants ont ete operes par laparotomie : biopsie d’une volumineuse masse abdominale six et huit semaines apres la resection d’un boudin d’invagination (2 cas), resection ileale segmentaire d’un boudin d’invagination necrose (1 cas), hemicolectomie droite realisee devant la constatation d’une tumeur appendiculaire (1 cas), resection cuneiforme d’une lesion tumorale parietale hemicirconferentielle (2 cas), biopsie d’une adenopathie mesenterique lymphomateuse avec analyse extemporanee sans geste sur la lesion tumorale ileale dans un cas. Une polychimiotherapie a ete initiee des le diagnostic. Les suites ont toujours ete simples. Tous les enfants sont suivis sans recidive avec un recul de 15 mois a 13 ans. Commentaires. – L’aspect peroperatoire des lymphomes digestifs doit etre connu de tout chirurgien. Le diagnostic peut etre difficile a porter lors d’un episode d’invagination imposant, en cas d’intervention, des biopsies sur toute zone suspecte. La resection intestinale permet d’alleger la chimiotherapie mais doit etre limitee : resection segmentaire en cas d’invagination irreductible ou de complication, simple tumorectomie en zone saine en cas de lesion parietale isolee. Si le diagnostic de lymphome peut etre obtenu par des prelevements peripheriques (liquide peritoneal, liquide pleural, adenopathie mesenterique, myelogramme, …), le chirurgien peut s’abstenir de tout geste sur le tube digestif en dehors d’une desinvagination manuelle.

Evaluate neonatal management and outcome of neonates with either a prenatal or a post-natal diagnosis of EA type III.Population-based study using data from the French National Register for EA from 2008 to 2010. We compared children with prenatal versus post-natal diagnosis in regards to prenatal, maternal and neonatal characteristics. We define a composite variable of morbidity (anastomotic esophageal leaks, recurrent fistula, stenosis) and mortality at 1 year.Four hundred and eight live births with EA type III were recorded with a prenatal diagnosis rate of 18.1%. Transfer after birth was lower in prenatal subset (32.4% versus 81.5%, P0.001). Delay between birth and first intervention was not significantly different. Defect size (2cm vs 1.4cm, P0.001), gastrostomy (21.6% versus 8.7%, P0.001) and length in neonatal unit care were higher in prenatal subset (47.9 days versus 33.6 days, P0.001). The composite variables were higher in prenatal diagnosis subset (38.7% vs 26.1%, P=0.044).Despite the excellent survival rate of EA, cases with antenatal detection have a higher morbidity related to the EA type (longer gap). Even if it does not modify neonatal management and 1-year outcome, prenatal diagnosis allows antenatal parental counseling and avoids post-natal transfer.

Nous presentons une serie de 6 duplications du canal anal, duplications digestives situees le long de la face posterieure du canal anal et s'abouchant au perinee en arriere de l'anus. Ces duplications ont ete diagnostiquees chez cinq filles et 1 garcon, avant l'âge de 1 an dans 5 cas, par la simple inspection perineale, car asymptomatiques 5; une enfant de 12 ans a consulte pour des douleurs anales et perineales avec diarrhees. L'opacification a revele une structure tubulaire dans 5 cas et spherique dans 1 cas, en arriere du canal anal normal, communicant avec lui dans un seul cas. Pour deux enfants, un teratome sacrococcygien (TSC), de type IV de Altmann, etait associe, dont un visualise en pre-operatoire par une echographie perineale chez un nourrisson aux antecedents de myelomeningocele lombosacree. L'exerese chirurgicale a ete menee par voie perineale dans 5 cas, par voie combinee, perineale et sacree, dans le dernier cas associe a un TSC pour permettre le traitement concomitant de cette tumeur. Un bilan radiologique non-invasif, comportant une radiographie standard du sacrum, une echographie abdomino-pelvienne et perineale et une opacification de la duplication est suffisant dans la plupart des cas, permettant de reserver l'IRM a certaines indications. Le traitement chirurgical restitue un aspect perineal normal et evite les complications decrites dans les duplications digestives (infection, ulceration, hemorragie et degenerescence a l'âge adulte). Les anomalies loco-regionales sont frequentes dans la litterature (tumeur presacree: 16%, malformation anorectale: 21%, dysgenesie lombosacree: 21%) et elles peuvent modifier la prise en charge therapeutique (voie d'abord chirurgical) et le pronostic fonctionnel.

Neonatal splenic injury is a rare but serious condition, due to the risk of haemorrhagic shock. We report on the case of a newborn infant with a neonatal respiratory distress that first evoked materno-fetal infection. Clinical deterioration, with anemia and abdominal distension, led then to the proper diagnosis. Dystocia seems to be the most likely cause of the splenic rupture in this report. Medical treatment is advocated as first line, while surgical treatment may be necessary in some cases. In the case surgery is inevitable, a conservative approach is preferable.

Intestinal perforations in preterm newborn are characterized with high morbidity and mortality rates. They often are associated with necrotizing enterocolitis and seldom correspond to idiopathic spontaneous intestinal perforation. Perforations upstream of an intestinal organic obstruction (atresia), or of a functionnal obstruction (meconium-ileus, Hirschsprung disease) have been considered to be rare in preterm newborns. We report a case of caecal perforation with a pneumoperitoneum which occurred at 5 days of life, in a 28-week gestational age infant, that was treated by cecostomy. There were no signs of necrotizing enterocolitis. At 43 days of life, the preoperative contrast enema study revealed a left colon transition zone, suggesting a Hirschsprung disease, which was confirmed by rectal biopsies. Transanal pull-through was performed. There were no postoperative complication. This case demonstrates that an isolated intestinal perforation in very preterm newborn can reveal a Hirschsprung disease, especially if it occurs in the caecum.

To evaluate various surgical techniques for partial oophorectomy cryopreservation. To evaluate the consequences of prior exposure to cytotoxic therapy on the quality of the ovary removed.Single center retrospective observational study over 4 years of women who had ovarian cryopreservation surgery for chemotherapy or radiotherapy which were at high risk of premature ovarian failure. Several techniques have been proposed: partial oophorectomy with clamping of the vascular gonadal pedicle (indirect tissue sample) without clamping (direct tissue sample) and partial oophorectomy with an automatic stapler. Ovarian tissue was immediately prepared for cryopreservation in the operating theatre. The whole sample was divided into small slices. For each ovary, a count of small slices was made. Additionally, one slice was examined to determine the presence of primordial follicles.Ovary was successfully removed and cryopreserved in 13 patients. Two bleeding events occurred with the direct technique, without consequences for patients. The number of fragments obtained between indirect and direct techniques was respectively 19 vs 15, P=0.18; the number of primordial follicles was 38 vs 36, P=0.87. The automatic stapler consumed too much ovarian tissue to be interesting. There were fewer fragments, 15 vs 20, P0.05 and primordial follicles, 35 vs 40, P=0.65, after a first cycle of chemotherapy.The vascular clamping technique is safer but with no difference in the quality of the sample tissue. One cycle of chemotherapy has a pejorative impact on the quality of the sample tissue.

Summary. A 5 month-old baby developed non-ceasing intra-peritoneal bleeding after extensive surgical biopsy for an hepatoblastoma. A single recombinant activated factor VII injection following enlarged hepatectomy helped to resolve quickly this life-threatening haemorrhagic syndrome.

Mendelian susceptibility to mycobacterial disease (MSMD) is a rare genetic syndrome that predisposes patients to infections caused by weakly virulent mycobacterial species, such as bacillus Calmette-Guérin (BCG) vaccines and nontuberculous environmental mycobacteria in children free of classical immunodeficiencies. This syndrome consists of impaired antimycobacterial immunity (axis IL12/INF-γ) constituting a new immune deficiency and outlining its major role in mycobacterial immunity. We report a new case of MSMD through the observation of a young girl with a disseminated infection due to Mycobacterium avium. The molecular defect was 2 autosomal recessive mutations of the IL12Rβ1 gene (gene encoding for the β1 chain of the IL12 receptor) leading to the absence of the IL12 receptor on the activated T lymphocytes' surface. IL-12RB1 deficiency is the most common genetic etiology of MSMD. Today, there are 6 MSMD-causing genes, leading to 13 distinct genetic disorders. The clinical phenotype differs between patients. The description of the molecular and immunological basis of this syndrome has allowed us to explain the pathophysiology of antimycobacterial immunity and is essential to understanding and managing these diseases.

The ex utero intrapartum treatment (EXIT) procedure uses uteroplacental gas exchange after caesarean section for foetus oxygenation. This placental support allows establishing an airway in the newborn in case of obstruction. Maintenance of placental perfusion requires uterine relaxation. A halogenated agent is classically use while nitroglycerine is used in the modified EXIT procedure.We present the case of a newborn with a giant thyroid teratoma diagnosed on ultrasound at 20 weeks' gestation. At 32 weeks' gestation, a modified EXIT procedure was performed. The EXIT was successful and newborn was operated on the following day. Currently, the child is 32-month-old, has no sequelae and benefits from thyroid hormone substitution.The EXIT procedure allows managing airway obstruction, even when complex, at birth. Nevertheless, prolonged uterine relaxation increases the risk of flooding. Because of its short half-life, nitroglycerine reduces this risk. In this case report we chose the modified EXIT procedure because the mother was young and primipara and foetal prognosis was poor.Currently, the EXIT procedure is the technique of choice in the management of a foetal cervical mass. An exhaustive preoperative foetal workup is necessary to choose the classical or modified EXIT procedure.

Resume L'invagination jejunojejunale est une forme rare d'invagination intestinale. Contrairement a l'invagination ileoc˦cocolique, elle interesse preferentiellement l'enfant de plus de 2 ans, se revele souvent par un tableau clinique subaigu atypique et est secondaire a une lesion organique. Observation Un garcon de 14 ans presentait une douleur epigastrique recente accompagnee de vomissements bilieux. L'examen clinique ne montrait rien d'anormal, seule l'echographie abdominale mettait en evidence un boudin d'invagination dans l'hypocondre gauche. L'exploration chirurgicale par laparotomie decouvrait une invagination jejunojejunale non reductible et permettait une resection anastomose. L'examen anatomopathologique montrait un polype developpe sur une zone d'heterotopie gastrique. Conclusion Il faut connaitre ces invaginations du jejunum qui peuvent etre decouvertes avec retard. Elles necessitent un traitement chirurgical en urgence qui, seul, permet de traiter une cause organique toujours permanente.

International audience; Carcinoid tumors are the most common endobronchial tumor in the pediatric population, and represent a rare cause of airway obstruction. The authors report two cases of boys aged 10 and 11 years old, who presented with a 12-month history of recurrent pneumonia. Bronchial endoscopy showed an endobronchial tumor. Chest CT-scan identified local extension and lung-associated lesions; octreoscan was performed to detect distant metastases. Histopathological study concluded in typical carcinoid tumor. The outcome after surgical conservative resection is uneventful with a follow-up of 7 and 26 months. Bronchial tumors must be considered in children with recurrent pneumonia or persistant respiratory symptoms, and require CT scan and bronchial endoscopy for their diagnosis.

Intestinal perforations in preterm newborn are characterized with high morbidity and mortality rates. They often are associated with necrotizing enterocolitis and seldom correspond to idiopathic spontaneous intestinal perforation. Perforations upstream of an intestinal organic obstruction (atresia), or of a functionnal obstruction (meconium-ileus, Hirschsprung disease) have been considered to be rare in preterm newborns. We report a case of caecal perforation with a pneumoperitoneum which occurred at 5 days of life, in a 28-week gestational age infant, that was treated by cecostomy. There were no signs of necrotizing enterocolitis. At 43 days of life, the preoperative contrast enema study revealed a left colon transition zone, suggesting a Hirschsprung disease, which was confirmed by rectal biopsies. Transanal pull-through was performed. There were no postoperative complication. This case demonstrates that an isolated intestinal perforation in very preterm newborn can reveal a Hirschsprung disease, especially if it occurs in the caecum.

Neonatal splenic injury is a rare but serious condition, due to the risk of haemorrhagic shock. We report on the case of a newborn infant with a neonatal respiratory distress that first evoked materno-fetal infection. Clinical deterioration, with anemia and abdominal distension, led then to the proper diagnosis. Dystocia seems to be the most likely cause of the splenic rupture in this report. Medical treatment is advocated as first line, while surgical treatment may be necessary in some cases. In the case surgery is inevitable, a conservative approach is preferable.

Pediatric thoracic emergencies are frequent and may be due to a large spectrum of lesions including traumatic and non traumatic pathologies, such as foreign bodies, mediastinal tumors, pulmonary infections, asthma, pneumothorax and delayed manifestations of congenital chest malformations. Emergencies require rapid diagnosis to make a treatment plan and in most cases, radiology plays an essential role. Plain chest radiographs remain the initial study with inspiratory films. In certain circumstances, the use of expiratory films is absolutely necessary. Ultrasonogragraphy is the primary modality for evaluation of pleural effusions. Computed tomography (CT), with volume acquisition and more rapid scanning, is a technique capable of imaging the lungs and mediastinum with excellent spatial resolution in the pediatric population. CT provides more information than chest radiographs. This explains the increasing indications of CT in the evaluation of pediatric thoracic emergencies, more particularly traumatic emergencies.

A 5 month-old baby developed non-ceasing intra-peritoneal bleeding after extensive surgical biopsy for an hepatoblastoma. A single recombinant activated factor VII injection following enlarged hepatectomy helped to resolve quickly this life-threatening haemorrhagic syndrome.

Intussusception due to lymphoma is a challenging condition for pediatric surgeons. The aim of this study is to report seven cases of this entity and to discuss its management.Six boys and one girl, 3-15-years-old, were admitted for intussusception secondary to a lymphoma. All patients underwent laparotomy: biopsy of massive abdominal tumor 6 and 8 weeks following resection of an intussusception (two cases), ileal resection of non-reductible intussusception (one case), right hemicolectomy for tumor of the appendix (one case), tumorectomy of localized ileal tumor (two cases), enlarged mesenteric lymph node biopsy associated with simple reduction of intussusception (one case). All children were successfully treated with protocol chemotherapy with a 15-month to 13-year follow-up. No relapse was observed.Surgeons should be aware of operative sights of ileal lymphomas. Diagnosis of lymphoma may be difficult after manual reduction of intussusception. A sample of any abnormality (mesenteric lymph node, peritoneal fluid) should be taken. Intestinal resection allows to reduce the intensity of chemotherapy but must be as limited as possible: ileal resection in cases of complicated intussusception, tumorectomy "in sano" in cases of ileal parietal isolated tumor. Reduction of intussusception alone (with no resection of ileal tumor) seems to be effective if diagnosis of lymphoma is possible from peripheral samples (peritoneal fluid, pleural effusion, mesenteric lymph node, bone marrow biopsy...).

In a previous anatomical study of the oblique sinus of pericardium, we reported on the morphological variations of this recess. We noted a previously undescribed variation of its top in 32.7% of our cases. Here we detail this variation using microscopic and macroscopic mediastinal dissections of 107 adult fresh cadavers. It seems a top fold of the oblique sinus contains a permeable esophago-atrial vein or a fibrous cord. These unique variations of the oblique sinus modify the classical anatomical and embryological descriptions. Abnormal esophago-atrial veins have not been described previously but they are predictable according to embryological knowledge. From a clinical point of view, such a vein, permeable or not, may facilitate extension of esophageal carcinoma to the pericardium and may represent a porto-systemic bypass in cases of portal hypertension.

Neuroblastoma is the most frequent tumor observed in the newborn. The aim of this study was to review clinical features, treatment and outcome of newborns diagnosed with a localized neuroblastoma.Data from 52 cases treated according to the NBL 90 and 94 protocols between 1990 and 1999 in 18 French centers of pediatric oncology were analyzed.The median age at diagnosis was 12 days (range 0-28) with antenatal detection in 14 patients (27%). Tumor location was abdominal in 40 patients (adrenal in 20 of the 40), thoracic in eight, pelvic in three, and cervical in one. N-myc amplification was observed in one out of 40 evaluable cases. The size of the primary tumor was less than 5 cm in 25 cases, between 5 and 10 cm in 25 and more than 10 cm in two. Dumbbell tumor was observed in seven, of whom five had neurological deficit. One child died from hemorrhage after fine needle biopsy during diagnostic procedure. Primary surgical resection was attempted in 37 infants, of whom two died of surgery related complications and three had nephrectomy. Tumor was deemed as unresectable in 14 patients, and primary chemotherapy was given followed by surgical excision in 12. One of them died a few days after the beginning of chemotherapy. As a whole, continuous complete remission was achieved in 48 children, four of them after relapse. Overall survival was 92% with a median follow-up of 46 months (0-113 months).The excellent prognosis of localized NB in neonates needs very restrictive surgical indications, with well-established anatomic and imaging criteria. Indeed, chemotherapy based on weight and managed by expert teams should allow to perform surgical excision in safer conditions for unresectable tumors.

Thyroglossal duct cyst (TGDcs) is the most common malformation of the neck. The risk of infection and malignant transformation impose its treatment.The purpose of our study were: 1) to specify some points about the symptomatology and preoperative evaluation necessary for TGDcs diagnosis; 2) to analyse the factors who can explain an unsuccessful surgical treatment.Our study is based on a retrospective review of cases and a review of the literature. From 1981 to 2000, 99 children with a mean age of five years were treated for a TGDcs with a surgical procedure in the Grenoble University Hospital. 3 excision and 96 Sistrunck's procedure were performed. In all cases a histological study was made.Ultrasonography was the most frequent preoperative evaluation. We have had 7 complications: 3 haematoma, 2 abscess and 2 desunited scar. 6 children have had recurrent disease. Among these 6 children, 3 have had an excision and 3 a Sistrunck's procedure. No case of malignant transformation was reported.Ultrasonography is the first preoperative evaluation to obtain before surgical treatment of a TGDcs. Sistrunck's procedure is the best surgical treatment with a value of recurrence from 1% to 10%. Areas of surgical failure included breaking of cyst during the dissection, inadequate hyoïd bone resection, an anatomical variation with many ductuli in the base of tongue, inadequate muscles of tongue resection.

Introduction Les malformations broncho-pulmonaires (MBP) de diagnostic antenatal (DAN) sont le plus souvent asymptomatiques. Les formes symptomatiques sont peu etudiees et leur frequence est meconnue. Materiels et methodes 152 dossiers de MBP de DAN ont ete colliges dans notre centre entre 1993 et 2013. Resultats 17 enfants etaient symptomatiques. 10 enfants ont presente des symptomes neonataux (detresse respiratoire, HTAP) et 7 enfants ont presente une surinfection tardive de leur MBP (de 2 mois A 4 ans et demi). Cinq enfants sont decedes (entre la naissance et 1 mois et demi), tous porteurs de formes graves neonatales. L’Etiologie des MBP etait variee (malformation kystique = 7, sequestration = 2, dilatation de bronche = 2, lymphangiectasies pulmonaires = 1, hypoplasie pulmonaire / cimeterre = 5). Conclusion Cette etude souligne la gravite potentielle des MBP de DAN puisque 11% d’entre elles se compliquent soit A la naissance soit secondairement dans les premiers mois de vie. Les formes graves neonatales sont greves d’une mortalite elevee (50%) mais correspondent parfois aux formes anatomiques les plus complexes. Des criteres pronostiques antenataux pourraient etre degages d’etudes similaires plus larges.

Objectif Prouver une origine embryologique commune des kystes congenitaux derivant du proenteron (KCDP) : kystes bronchogeniques ; duplications œsophagiennes et gastroduodenales. Materiel et methode Etude anatomique et histologique des 25 KCDP pris en charge depuis 2004. Resultats Sur 25 KCDP, 2 etaient cervicaux, 12 thoraciques, et 11 abdominaux. L’epithelium etait bronchique pour 5 KCDP inclus dans la musculeuse oesophagienne (dont 2 abdominaux), pour 4 au contact de l’œsophage, et pour un pre hyoidien. Les duplications gastroduodenales avaient un epithelium digestif, mais leur analyse immuno-histo-chimique peut rendre compte d’une differenciation respiratoire. Des malformations associees ont ete retrouvees dans 25% des cas. Conclusion Ces KCDP semblent etre une meme entite malformative, soit des duplications proenteriques, dont la denomination actuelle partagees par les chirurgiens pediatres, n’est que le qualificatif de la localisation d’une meme pathologie dont le traitement est la resection. Ils peuvent etre expliques par un bourgeon ectopique issu d’un derive du proenteron, apres la huitieme semaine de developpement, compatible avec l’absence d’artere systemique et un faible taux de malformations associees, par opposition aux sequestrations pulmonaires.

Les enfants operes d’une atresie de l’oesophage peuvent presenter des episodes d’impaction alimentaire repetes pouvant necessiter une extraction endoscopique qui n’est parfois pas realisable ou refusee par l’enfant et/ou la famille. Nous rapportons l’experience de l’utilisation d’extraits pancreatiques comme une alternative therapeutique permettant de limiter les nombre d’anesthesie chez ces enfants et d’eviter un geste invasif dans les cas ou l’endoscopie n’est pas indispensable (absence de stenose, d’hypersialorrhee ou d’inconfort majeur). Deux enfants âges de 3 a 7 ans ont ainsi pu etre traites avec succes pour 5 episodes de blocage alimentaire. L’efficacite a ete obtenue dans les 3 jours avec disparition de la sensation de blocage, absence de recidive des vomissements et reprise d’une alimentation normale. Aucun effet secondaire n’a ete note. L’administration d’extraits pancreatiques represente une alternative simple et peu couteuse a l’endoscopie systematique pour les impactions alimentaires incompletes chez les enfants operes d’atresie de l’œsophage et sans stenose oesophagienne significative.

Introduction Les teratomes cervico-faciaux sont des tumeurs rares pouvant comprimer l’arbre tracheoœsophagien et conduire au deces. La procedure EXIT est la methode la plus sure pour faire naitre un fœtus presentant une obstruction des voies aeriennes transformant une urgence neonatale en une intervention controlee. Cas Cliniques Nous presentons 2 cas cliniques d’EXIT-procedure, nes par cesarienne a 34 et 38SA, avec exerese precoce d’un teratome thyroidien mature. Les suites ont etes simples avec un recul de 3 et 8 ans. Discussion Les teratomes cervicaux sont habituellement des tumeurs benignes, mais pouvant comprimer les voies aeriennes superieures fœtales et entrainer le deces lors de l’accouchement. L’IRM foetale permet une evaluation precise de la tumeur. Le pronostic sera lie a l’accouchement, au type de tumeur et aux sequelles possibles de la chirurgie. La procedure augmente les risques maternels hemorragiques et infectieux et la balance benefices/risques doit etre prise en compte. Conclusion Les masses cervicales geantes restent un challenge therapeutique, facilite par le diagnostic prenatal et l’IRM fœtale, dont la morbi-mortalite peut etre abaissee par la prise en charge au cours d’une procedure EXIT.

Introduction Les tumeurs carcinoides bronchiques representent des tumeurs rares chez l’enfant. Leur description est rare dans la litterature pediatrique. Materiels et methodes Entre 2000 et 2013 les auteurs rapportent 4 observations concernant des garcons âges de 11 a 15 ans et presentant dans 3 cas des pneumopathies a repetition et dans un cas un tableau de toux chronique. Resultats Le diagnostic a ete pose grâce a l’imagerie et a l’endoscopie bronchique et le traitement a toujours ete chirurgical. Dans 2 cas une reimplantation bronchique a ete necessaire. Un seul enfant avait des noeuds lymphatiques peri-bronchiques envahis. Les 3 autres enfants etaient classes T1N0. Les suites ont ete favorables sans recidive. Conclusion les tumeurs carcinoides bronchiques de l’enfant doivent etre traitees par exercice pulmonaire carcinologique. Leur pronostic est excellent.

To evaluate the anatomy and histology of the ureterovesical junction resected during secondary surgical reimplantation for persistent reflux after failure of initial endoscopic treatment by polytetrafluoroethylene (Teflon) in 27 cases and polydimethylsiloxane (Macroplastique) in 13 cases.61 ureterovesical junctions from 40 children were studied histologically. The mean age of the patients at the time of the operation was 4.1 years (range: 1 to 15 years). The mean interval between endoscopic injection and surgical reimplantation was 15.3 months (range: 2 to 54 months).Persistent reflux was not correlated with the anatomical situation of the implant, which was found to be in a satisfactory position in 52.4% of cases. Both of the substances used induced a giant-cell macrophage reaction which colonized the implant and triggered new vessel formation. Macroplastique appeared to be associated with a more intense inflammatory reaction than Teflon. Despite the difference in particle size, the two substances induced a macrophage phenomenon characterized by microfragmentation into 6 micron particles. No conclusions can be drawn concerning distant migration, but this study showed rarefaction of particles which were replaced by fibrosis, the density of which was correlated with the age of the implant.Extinction of the local reaction induced by the products used in this study appears to be long and the end of this process is unknown, which justifies prolonged surveillance of children treated for reflux by endoscopic submeatal injection.

Objectif Les fistules mediastinales ou oeso-bronchiques (FOB) apres cure d’atresie de l’oesophage (AO) posent souvent des difficultes de prise en charge. Nous rapportons l’utilisation d’endoprothese oesophagienne (EPO) dans une telle situation ayant permis d’obtenir une guerison. Observation Une enfant prematuree est operee d’une AO (anastomose differee sous tension). Le TOGD pratique a J10 retrouve une stenose anastomotique avec fistule mediastinale borgne. Apres 6 semaines de traitement conservateur une dilatation hydraulique endoscopique est realisee. Deux semaines plus tard une FOB est mise en evidence traitee par une EPO metallique couverte (8 mm de diametre, 40 mm de long) (Wallstent ® ). La realimentation orale est autorisee a J6. La prothese est extraite 6 semaines plus tard. L’opacification confirme la guerison de la FOB. Avec un recul de 14 mois, la stenose et la fistule n’ont pas recidive. Conclusions Les EPO constituent une alternative qui merite d’etre discutee lors de la survenue de FOB apres cure d’AO. Elles permettent de traiter stenose et fistule en un temps et autorisent une realimentation orale rapide. La collaboration d’un endoscopiste interventionnel familiarise avec ce materiel et la pratique de l’endoscopie pediatrique est indispensable.

L’objectif de ce travail est de preciser les modalites et les indications actuelles de l’exerese chirurgicale complementaire des tumeurs carcinoides de l’appendice (TCA) chez l’enfant. Observation Une fillette de 11 ans est adressee pour une TCA decouverte sur une piece d’appendicectomie avec, pour caracteristiques : diametre > 20 mm, large extension au meso, emboles lymphatiques. L’echographie retrouve des adenopathies > 20 mm en fosse iliaque droite et un foyer hypermetabolique existe a ce niveau en petscan. Le marqueur 5HIAA est normal. Une hemicolectomie droite coelio-assistee est decidee en concertation et realisee. L’histologie de la piece d’hemicolectomie ne retrouve aucun reliquat de la tumeur endocrine. L’enfant ne presente, avec un recul de 6 mois, aucun signe de recidive. Conclusion Les TCA sont rares et reputees de bon pronostic chez l’enfant, generalement traitees par appendicectomie seule. Neanmoins, quelques formes metastatiques graves sont decrites. Les modalites du traitement, souvent basees sur le siege, la taille et l’extension locale de la tumeur, ne sont pas consensuelles. La place de l’hemicolectomie droite est notamment tres discutee. Une revue de la litterature est realisee pour essayer d’actualiser l’etat des connaissances sur ce sujet.

Pediatric thoracic emergencies are frequent and may be due to a large spectrum of lesions including traumatic and non traumatic pathologies, such as foreign bodies, mediastinal tumors, pulmonary infections, asthma, pneumothorax and delayed manifestations of congenital chest malformations. Emergencies require rapid diagnosis to make a treatment plan and in most cases, radiology plays an essential role. Plain chest radiographs remain the initial study with inspiratory films. In certain circumstances, the use of expiratory films is absolutely necessary. Ultrasonogragraphy is the primary modality for evaluation of pleural effusions. Computed tomography (CT), with volume acquisition and more rapid scanning, is a technique capable of imaging the lungs and mediastinum with excellent spatial resolution in the pediatric population. CT provides more information than chest radiographs. This explains the increasing indications of CT in the evaluation of pediatric thoracic emergencies, more particularly traumatic emergencies.