Anatomical study of the thoracic duct and its clinical implications in thoracic and pediatric surgery, a 70 cases cadaveric study.

INTRODUCTION: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.

Pediatric pheochromocytoma in association with Von Hippel-Lindau disease: Focus on screening strategies.

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.

[Post-traumatic pulmonary aspergilloma]. / Aspergillome pulmonaire sur corps étranger résiduel post-traumatique. Diagnostic et prise en charge.

INTRODUCTION: 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. CASE REPORT: 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. CONCLUSIONS: 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.

[Type 1 neurofibromatosis: Onset of two tumors before the age of 5years]. / Neurofibromatose de type 1 : survenue de deux tumeurs avant l'âge de 5 ans.

Neurofibromatosis type 1 (NF1) is a frequent autosomal dominant genetic disorder that predisposes to the development of benign and malignant tumors. Mutation of the NF1 gene affects the RAS-MAPK signaling pathway and leads to a dysfunction in cell proliferation and induces tumor development. Epidemiology of cancer in children with NF1 is very different from the general pediatric population, which requires regular and specific monitoring. Neurofibroma is the most frequent benign tumor. It can be very invalidating depending on the size and location of the tumor. Currently, there is no specific treatment for these tumors. The most frequent malignancies in children with NF1 are leukemias, rhabdomyosarcomas, malignant peripheral nerve sheath tumors and gliomas. The treatment of these tumors should consider the risk of second cancers induced by radio- and chemotherapy. We report on the case of a 5-year-old boy with NF1 developing two tumors.

[Metastatic medullary thyroid carcinoma in a child with multiple endocrine neoplasia 2B. Efficiency of medium-term treatment with vandetanib without thyroid surgery]. / Carcinome médullaire de la thyroïde métastatique : efficacité à moyen terme d'un traitement par vandétanib sans chirurgie thyroïdienne chez un enfant porteur d'une néoplasie endocrinienne multiple de type 2B.

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.

[Does prenatal diagnosis modify neonatal management and early outcome of children with esophageal atresia type III?]. / Le diagnostic anténatal modifie-t-il la prise en charge néonatale et le devenir à 1 an des enfants suivis pour atrésie de l'œsophage de type III ?

OBJECTIVE: Evaluate neonatal management and outcome of neonates with either a prenatal or a post-natal diagnosis of EA type III. STUDY DESIGN: 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. RESULTS: 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%, P<0.001). Delay between birth and first intervention was not significantly different. Defect size (2cm vs 1.4cm, P<0.001), gastrostomy (21.6% versus 8.7%, P<0.001) and length in neonatal unit care were higher in prenatal subset (47.9 days versus 33.6 days, P<0.001). The composite variables were higher in prenatal diagnosis subset (38.7% vs 26.1%, P=0.044). CONCLUSION: 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.

[Ovarian cryopreservation: evaluation of two surgical procedures]. / Cryoconservation ovarienne: évaluation de deux techniques chirurgicales.

OBJECTIVES: 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. PATIENTS AND METHODS: 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. RESULTS: 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, P<0.05 and primordial follicles, 35 vs 40, P=0.65, after a first cycle of chemotherapy. DISCUSSION AND CONCLUSION: 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.

[Mendelian susceptibility to mycobacterial disease: a case report of disseminated infection due to Mycobacterium avium]. / Syndrome de susceptibilité mendélienne aux infections mycobactériennes : à propos d'un cas d'infection disséminée à Mycobacterium avium.

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 IL12Rß1 gene (gene encoding for the ß1 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 EXIT procedure: principles and application in congenital cervical teratomas]. / La procédure EXIT modifiée: principes et application dans les tératomes cervicaux congénitaux.

INTRODUCTION: 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. CASE REPORT: 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. DISCUSSION: 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. CONCLUSION: 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.

[Recurrent pneumonia revealing a bronchial carcinoid tumor: report of two cases]. / Pneumopathies récidivantes révélant une tumeur carcinoïde bronchique : à propos de deux observations.

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.

[Neonatal splenic injury: a difficult diagnosis]. / La rupture splénique en période néonatale: un diagnostic difficile.

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.

[Pseudo-"isolated" intestinal perforation in a very low birth weight infant: exceptional presentation of Hirschsprung's disease]. / Perforation intestinale du grand prématuré en apparence "isolée": mode de révélation exceptionnel de la maladie de Hirschsprung.

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.

[Emergency pediatric thoracic radiology]. / Imagerie thoracique en urgence chez l'enfant.

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.

An esophago-atrial vein or fibrous cord in a top fold of the oblique sinus of the pericardial sac.

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.

[Neonatal localized neuroblastoma: 52 cases treated from 1990 to 1999]. / Neuroblastomes localisés du nouveau-né: 52 cas traités de 1990 à 1999.

UNLABELLED: 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. POPULATION AND METHODS: 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. RESULTS: 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). CONCLUSION: 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.

Successful use of recombinant factor VIIa for severe surgical liver bleeding in a 5 month-old baby.

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.

[Surgical aspects of intussusception due to lymphoma in children]. / Aspects chirurgicaux des invaginations intestinales sur lymphome chez l'enfant.

BACKGROUND: 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. CASE REPORT: 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. CONCLUSION: 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...).