[SMARCB1-deficient renal medullary carcinoma with supra clavicular revealing location]. / Carcinome médullaire rénal SMARCB1-déficient révélé par une métastase ganglionnaire sus-claviculaire.

We report the case of a 14 year-old teenager who has SC hemoglobinosis and presented with a tumor syndrome with a retro-peritoneal mass, a supraclavicular lymph node and a mid-renal lesion. The microscopic examination revealed an undifferentiated tumor proliferation infiltrating the lymph node parenchyma. This tumor proliferation was INI1/SMARCB1-deficient, and expressed cytokeratins. Given the fact that the histopathological data showed an undifferentiated INI1-deficient carcinoma and that the patient has a kidney lesion and a sickle cell trait, the final diagnosis was lymph node metastasis of SMARCB1-deficient renal medullary carcinoma (OMS 2022).

Thoracoscopy for Pediatric Thoracic Neurogenic Tumors-A European Multi-Center Study.

OBJECTIVES: To assess the efficacy of thoracoscopy and the outcome for children with thoracic neurogenic tumors. METHODS: We performed a retrospective review of 15 European centers between 2000 and 2020 with patients who underwent thoracoscopy for a neurogenic mediastinal tumor. We assessed preoperative data, complications, and outcomes. Results were expressed with the median and range values. RESULTS: We identified 119 patients with a median age of 4 years old (3 months-17 years). The diameter was 5.7 cm (1.1-15). INRG stage was L1 n = 46, L2 n = 56, MS n = 5, M n = 12. Of 69 patients with image-defined risk factors (IDRF), 29 had only (T9-T12) locations. Twenty-three out of 34 patients with preoperative chemotherapy had an 18 mm (7-24) decrease in diameter. Seven out of 31 patients lost their IDRF after chemotherapy. Fourteen had a conversion to thoracotomy. The length of the hospital stay was 4 days (0-46). The main complications included chylothorax (n = 7) and pneumothorax (n = 5). Long-term complications included Horner's syndrome (n = 5), back pain, and scoliosis (n = 5). Pathology was 53 neuroblastomas, 36 ganglioneuromas, and 30 ganglioneuroblastomas. Fourteen had a postoperative residue. With a median follow-up of 21 months (4-195), 9 patients had a recurrence, and 5 died of disease. Relapses were associated with tumor biology, histology, and the need for chemotherapy (p = 0.034, <0.001, and 0.015, respectively). Residues were associated with preoperative IDRF (excluding T9-T12 only) and the need for preoperative chemotherapy (p = 0.04 and 0.020). CONCLUSION: Our results show that thoracoscopy is safe, with good outcomes for thoracic neurogenic tumors in selected cases. Surgical outcomes are related to the IDRFs, whereas oncologic outcomes are related to tumor histology and biology.

Early Evaluation of a New French Surgery Course in the Best Practice of Dealing With Major Incidents and Mass Casualty Events.

OBJECTIVE: The main objective of this study is to evaluate the impact of a nationwide 5-month course aimed to prepare surgeons for Major Incidents through the acquisition of key knowledge and competencies. Learners' satisfaction was also measured as a secondary objective. DESIGN: This course was evaluated thanks to various teaching efficacy metrics, mainly based on Kirkpatrick's hierarchy in medical education. Gain in knowledge of participants was evaluated by multiple-choice tests. Self-reported confidence was measured with 2 detailed pre and post training questionnaires. SETTING: Creation in 2020 of a nationwide, optional and comprehensive Surgical Training in War and Disaster Situation as part of the French surgery residency program. In 2021, data was gathered regarding the impact of the course on participants' knowledge and competencies. PARTICIPANTS: The study included 26 students in the 2021 cohort (13 residents and 13 practitioners). RESULTS: Mean scores were significantly higher in the post-test compared to the pre-test, showing significant increase in participants' knowledge during the course: 73,3% vs. 47,3% respectively (p ≤ 0.001). Average learners' confidence scores to perform technical procedures showed at least a +1-point increase on the Likert scale for 65% of items tested (p ≤ 0.001). 89% of items showed at least a +1-point increase on the Likert scale when it came to average learners' confidence score on dealing with complicated situations (p ≤ 0.001). Our post-training satisfaction survey showed that 92% of all participants have noticed the impact of the course on their daily practice. CONCLUSION: Our study shows that the third level of Kirkpatrick's hierarchy in medical education was reached. This course therefore appears to be meeting the objectives set by the Ministry of Health. Being only 2 years old, it is on the road to gathering momentum and further development.

Pectus Arcuatum: A Pectus Unlike Any Other.

BACKGROUND: Pectus arcuatum is often mistaken for a type of pectus carinatum. However, pectus arcuatum is a unique clinical form of pectus caused by premature obliteration of the sternal sutures (manubrial sternum, four sternebrae and xiphoïd process), whereas pectus carinatum is due to abnormal growth of the costal cartilage. In order to better describe pectus arcuatum, we analysed the files of patients with pectus arcuatum followed in our centers. METHODS: Multicenter retrospective study of young patients' files diagnosed with pectus arcuatum. RESULTS: The clinical diagnosis of pectus arcuatum was made in 34 patients with a mean age at diagnosis of 10.3 years (4-23 years). A chest profile X-ray or a CT scan was performed in 16 patients (47%) and confirmed the diagnosis of PA by the presence of a sternal fusion. It was complete in 12 patients. A malformation was associated in 35% of cases (Noonan syndrome 33%, scoliosis 25% or cardiopathy 16%). 11 patients (32%) had a family history of skeletal malformation. Orthopedic treatment was initiated in 3 patients without any success. 11 patients underwent surgical correction, which was completed in 7 of them. CONCLUSION: The diagnosis of pectus arcuatum is based on clinical experience and if necessary, on a profile chest X-ray showing the fusion of the sternal pieces. It implies the search for any associated malformations (musculoskeletal, cardiac, syndromic). Bracing treatment is useless for pectus arcuatum. Corrective surgery, based on a sternotomy associated with a partial chondro-costal resection, can be performed at the end of growth. LEVEL OF EVIDENCE: IV.

Outcome of long gap esophageal atresia at 6 years: A prospective case control cohort study.

BACKGROUND DATA: EA is the most frequent congenital esophageal malformation. Long gap EA remains a therapeutic challenge for pediatric surgeons. A case case-control prospective study from a multi-institutional national French data base was performed to assess the outcome, at age of 1 and 6 years, of long gap esophageal atresia (EA) compared with non-long gap EA/tracheo-esophageal fistula (TEF). The secondary aim was to assess whether initial treatment (delayed primary anastomosis of native esophagus vs. esophageal replacement) influenced mortality and morbidity at ages 1 and 6 years. METHODS: A multicentric population-based prospective study was performed and included all patients who underwent EA surgery in France from January 1, 2008 to December 31, 2010. A comparative study was performed with non-long gap EA/TEF patients. Morbidity at birth, 1 year, and 6 years was assessed. RESULTS: Thirty-one patients with long gap EA were compared with 62 non-long gap EA/TEF patients. At age 1 year, the long gap EA group had longer parenteral nutrition support and longer hospital stay and were significantly more likely to have complications both early post-operatively and before age 1 year compared with the non-long gap EA/TEF group. At 6 years, digestive complications were more frequent in long gap compared to non-long gap EA/TEF patients. Tracheomalacia was the only respiratory complication that differed between the groups. Spine deformation was less frequent in the long gap group. There were no differences between conservative and replacement groups at ages 1 and 6 years except feeding difficulties that were more common in the native esophagus group. CONCLUSIONS: Long gap strongly influenced digestive morbidity at age 6 years.

Anti-reflux surgery in children with congenital diaphragmatic hernia: A prospective cohort study on a controversial practice.

INTRODUCTION: Gastro-esophageal reflux disease (GERD) is the most frequent long-term morbidity of congenital diaphragmatic hernia (CDH) survivors. Performing a preventive fundoplication during CDH repair remains controversial. This study aimed to: (1) Analyze the variability in practices regarding preventive fundoplication; (2) Identify predictive factors for fundoplication. (3) Evaluate the impact of preventive fundoplication on gastro-intestinal outcomes in children with a CDH patch repair; METHODS: This prospective multi-institutional cohort study (French CDH Registry) included CDH neonates born in France between January 1st, 2010-December 31st, 2018. Patch CDH was defined as need for synthetic patch or muscle flap repair. Main outcome measures included need for curative fundoplication, tube feed supplementation, failure to thrive, and oral aversion. RESULTS: Of 762 CDH neonates included, 81 underwent fundoplication (10.6%), either preventive or curative. Median follow-up was 3.0 years (IQR: 1.0-5.0). (1) Preventive fundoplication is considered in only 31% of centers. The rates of both curative fundoplication (9% vs 3%, p = 0.01) and overall fundoplication (20% vs 3%, p < 0.0001) are higher in centers that perform preventive fundoplication compared to those that do not. (2) Predictive factors for preventive fundoplication were: prenatal diagnosis (p = 0.006), intra-thoracic liver (p = 0.005), fetal tracheal occlusion (p = 0.002), CDH-grade C-D (p < 0.0001), patch repair (p < 0.0001). After CDH repair, 8% (n = 51) required curative fundoplication (median age: 101 days), for which a patch repair was the only independent predictive factors identified upon multivariate analysis. (3) In neonates with patch CDH, preventive fundoplication did not decrease the need for curative fundoplication (15% vs 11%, p = 0.53), and was associated with higher rates of failure to thrive (discharge: 81% vs 51%, p = 0.03; 6-months: 81% vs 45%, p = 0.008), tube feeds (6-months: 50% vs 21%, p = 0.02; 2-years: 65% vs 26%, p = 0.004), and oral aversion (6-months: 67% vs 37%, p = 0.02; 1-year: 71% vs 40%, p = 0.03). CONCLUSIONS: Children undergoing a CDH patch repair are at high risk of requiring a curative fundoplication. However, preventive fundoplication during a patch repair does not decrease the need for curative fundoplication and is associated with worse gastro-intestinal outcomes in children. LEVEL OF EVIDENCE: II - Prospective Study.

Anal canal duplication in children: a monocentric experience of 12 cases.

PURPOSE: Anal canal duplication is a rare malformation characterized by a second perineal opening positioned behind the anus, which is generally observed at 6 o'clock in the lithotomy position. The purpose was to describe six new cases of anal canal duplication (in addition to our previously reported series of six patients) with the aim of providing further clinical information about this anomaly. METHODS: We described 6 new cases of anal canal duplication in terms of symptoms, anatomical disposition, imaging results, and histopathology. Clinical details of these cases and those already reported (n = 12) were summarized and compared to existing literature. RESULTS: A total of 12 cases were reported over 34 years. 17% of the patients were male, constituting the only subgroup to present a communication with the digestive tract. A single patient, diagnosed at 12 years, was symptomatic. Half of the patients had at least one associated malformation. All patients underwent surgery, either with a posterior sagittal or perineal approach. CONCLUSION: Diagnosis of anal canal duplication should be suspected when a perineal opening positioned behind the anus is present, and necessitates further exploration by a comprehensive clinical examination and imaging. Surgery is always required, typically performed via a posterior sagittal approach. The postoperative course is usually uncomplicated.

Risk Factors of Early Mortality and Morbidity in Esophageal Atresia with Distal Tracheoesophageal Fistula: A Population-Based Cohort Study.

OBJECTIVE: To identify the risk factors for early mortality and morbidity in a population with distal esophageal atresia (EA)-tracheoesophageal fistula. STUDY DESIGN: Cohort study from a national register. Main outcomes and measures included early mortality, hospital length of stay (LoS), need for nutritional support at 1 year of age as a proxy measure of morbidity, and complications during the first year of life. RESULTS: In total, 1008 patients with a lower esophageal fistula were included from January 1, 2008, to December 31, 2014. The survival rate at 3 months was 94.9%. The cumulative hospital LoS was 31.0 (17.0-64.0) days. Multivariate analysis showed that intrahospital mortality at 3 months was associated with low birth weight (OR 0.52, 95% CI [0.38-0.72], P < .001), associated cardiac abnormalities (OR 6.09 [1.96-18.89], P = .002), and prenatal diagnosis (OR 2.96 [1.08-8.08], P = .034). LoS was associated with low birth weight (-0.225 ± 0.035, P < .001), associated malformations (0.082 ± 0.118, P < .001), surgical difficulties (0.270 ± 0.107, P < .001), and complications (0.535 ± 0.099, P < .001) during the first year of life. Predictive factors for dependency on nutrition support at 1 year of age were complications before 1 year (OR 3.28 [1.23-8.76], P < .02) and initial hospital LoS (OR 1.96 [1.15-3.33], P < .01). CONCLUSIONS: EA has a low rate of early mortality, but morbidity is high during the first year of life. Identifying factors associated with morbidity may help to improve neonatal care of this population.

Study of abdominal wall muscle innervation applied to large-defect closure in congenital diaphragmatic hernia.

In large congenital diaphragmatic hernias (CDHs), direct suture of the diaphragm is impossible. Surgeons can use a triangular internal oblique muscle (IOM) plus transverse abdominis muscle (TAM) flap. Its caudal limit faces the medial extremity of the 11th rib. Clinical studies show that the flap is not hypotonic but that the procedure could expose patients already presenting a hypoplastic lung to external oblique muscle (EOM) hypotonia. The aims of this study were to study EOM innervation by the 10th intercostal nerve (ICN) and ICN innervation to the IOM and TAM. Forty cadaveric abdominal hemi-walls were dissected. The number of branches and the trajectory of each specimen's 10th ICN were studied medially to the medial extremity of the 11th rib (MEK11) using surgical goggles and a microscope (Carl Zeiss®). The 10th ICN was consistently found between the IOM and TAM. There was a median of nine branches from the 10th ICN to the EOM, 77% of them medial to the MEK11. Median values of nine and 12 branches for the IOM and TAM were found, 60% and 51%, respectively, medial to the MEK11. These results argue in favor of good innervation to the IOM plus TAM flap but also indicate postoperative abdominal weakness exposing patients to herniation risks, as more than 75% of the branches from the 10th ICN to the EOM were sectioned or pulled away during flap detachment. Clin. Anat., 33:759-766, 2020. © 2019 Wiley Periodicals, Inc.

A Wilms' Tumor with Spinal Cord Compression: An Extrarenal Origin?

Spinal cord compression in Wilms' tumor (WT) is an extremely rare event that can have a very poor prognosis if not taken care of rapidly. Most cases reported in the literature involve widely metastatic patient with bone or paraspinal metastases or occasionally intradural metastasis. Here, we present the case of a 3-year-old girl of WT confirmed by biopsy, with spinal cord compression due to the direct contiguous spread of a tumor through 2 vertebral foramina. Abdominal ultrasonography and magnetic resonance imaging performed for an abdominal mass revealed a large heterogeneous tumor near the upper pole of the left kidney. A nodular infiltration extended through the T11-L1 and L1-L2 neural foramina, forming an intraspinal mass that compressed the spinal cord. Major paresthesia subsequently occurred, requiring urgent treatment with corticosteroids and chemotherapy. The evolution was rapidly satisfying. After six courses of chemotherapy, a left nephrectomy was performed. Macroscopic examination identified a large tumor attached to the kidney without renal infiltration. Microscopical examination concluded to a nephroblastoma with regressive changes, of intermediate risk. Evolution at 6 months is satisfactory, with no neurological deficit. The histological aspect of the tumor and the clinical outcome suggest that she had an extrarenal WT that spread through the vertebral foramina and was secondarily attached to the kidney.

Endoscopic management of primary obstructive megaureter in pediatrics.

AIMS: The aims of this study were to evaluate the efficacy and safety of endoscopic treatment of primary obstructive megaureter in children, and to assess its long-term outcome. METHODS: Case files of 35 children who had endoscopic treatment of symptomatic primary obstructive megaureter between 2006 and 2016 were retrospectively analyzed. All children had ureterovesical junction dilatation with one or more ureteral dilators, and insertion of a JJ stent. An analysis of the case files and a comparison between pre- and postoperative ultrasound and scintigraphy findings were performed. RESULTS: The study population consisted of 22 boys and 13 girls aged between 2 months and 16 years. The follow-up period ranged from 8 months to 10 years. Twenty-one children (60%) were under 2 years at the time of treatment. The average duration of JJ stenting was 7 weeks (3-16 weeks). Thirty-four of 35 children (97%) were considered definitively cured, that is, asymptomatic with preserved renal function. Two children required open surgery for a failed endoscopic treatment procedure. Secondary reimplantation surgery was only necessary in one case (1/35) after technically satisfactory endoscopic treatment. Twelve of 35 children had a complication, including two Clavien III complications. Comparison of pre- and postoperative ultrasonography showed a significant decrease in ureteral diameter in 31 cases. Postoperative scintigraphy showed a significant improvement in the ureteral leaking curve in 20 children. CONCLUSION: In our experience, endoscopic treatment of congenital obstructive megaureter in pediatrics seems to be safe and effective. It is proposed as a first-line treatment for children requiring an intervention, even for young children under 2 years.

Evaluation of the management of severe trauma kidney injury and long-term renal function in children.

BACKGROUND: To evaluate the management and long-term renal function with DMSA scintigraphy in pediatric severe traumatic kidney injury grade IV and V at the trauma center of Grenoble Teaching Hospital. METHODS: This is a single-center observational retrospective study between 2004 and 2014. All children younger than 15 years and managed at the Grenoble teaching Hospital for a severe trauma kidney injury grade IV or V were included. The trauma grade was radiologically diagnosed on arrival at hospital, using the classification of the American Association for Surgery of Trauma. The management followed the algorithm in effect in the establishment. The assessment of the renal function was performed by a DMSA scintigraphy after at least 6 months from the injury. RESULTS: Twenty-one children were managed for a severe renal trauma (16 IV and 5 V). The diagnosis was initially made by an ultrasonography (eight cases) or a computed tomography scan (13 cases). A child with a severe renal trauma IV underwent nephrectomy on day 6 of the trauma. Eleven children needed a therapeutic procedure (three embolizations, four double J stents, one arterial stent, one peritoneal lavage for a splenic hemoperitoneum, four pleural drainages). A DMSA scintigraphy was performed in 15 patients to assess the function of the injured kidney: 11 of 16 severe renal trauma IV with an average of 39.4%, and 17% in 4 of 5 severe renal trauma V analyzed. CONCLUSION: Among the 21 children managed for a severe kidney trauma injury IV or V, 11 required a therapeutic procedure, one of them a nephrectomy. The DMSA scintigraphy performed after at least 6 months from the trauma found an injured renal function at 39.4% in 11 of 16 severe renal trauma IV analyzed, and 17% in 4 of 5 severe renal trauma V analyzed, which confirms the currently conservative management. LEVEL OF EVIDENCE: Type of study: original article, retrospective observational study, level IV.

Thoracic skeletal anomalies following surgical treatment of esophageal atresia. Lessons from a national cohort.

INTRODUCTION: Thoracotomy as surgical approach for esophageal atresia treatment entails the risk of deformation of the rib cage and consequently secondary thoracogenic scoliosis. The aim of our study was to assess these thoracic wall anomalies on a large national cohort and search for factors influencing this morbidity. MATERIALS AND METHODS: Pediatric surgery departments from our national network were asked to send recent thoracic X-ray and operative reports for patients born between 2008 and 2010 with esophageal atresia. The X-rays were read in a double-blind manner to detect costal and vertebral anomalies. RESULTS: Among 322 inclusions from 32 centers, 110 (34.2%) X-rays were normal and 25 (7.7%) displayed thoracic malformations, including 14 hemivertebrae. We found 187 (58.1%) sequelae of surgery, including 85 costal hypoplasia, 47 other types of costal anomalies, 46 intercostal space anomalies, 21 costal fusions and 12 scoliosis, with some patients suffering from several lesions. The rate of patients with these sequelae was not influenced by age at intervention, weight at birth, type of atresia, number of thoracotomy or size of the center. The rate of sequelae was higher following a classical thoracotomy (59.1%), whatever the way that thoracotomy was performed, compared to nonconverted thoracoscopy (22.2%; p=0.04). CONCLUSION: About 60 % of the patients suffered from a thoracic wall morbidity caused by the thoracotomy performed as part of surgical treatment of esophageal atresia. Minimally invasive techniques reduced thoracic wall morbidity. Further studies should be carried out to assess the potential benefit of minimally invasive approaches to patient pulmonary functions and on the occurrence of thoracogenic scoliosis in adulthood. LEVELS OF EVIDENCE: Level III retrospective comparative treatment study.

Thoracoscopic Rib Resection in Children.

OBJECTIVE: The authors present a multicenter retrospective series of different benign rib lesions in children operated on using thoracoscopy. MATERIALS AND METHODS: Between 2005 and 2015, 17 rib resections were performed thoracoscopically, in four French departments of pediatric surgery. Of these 17 cases, 13 exostoses, 2 endochondromas, 1 synostosis, and 1 Cyriax's syndrome were noted. Inclusion criteria were benign tumors or rib anomalies such as synostosis, in children younger than the age of 18 years, and thoracoscopy. Open surgery and malignant tumors were excluded. Thoracoscopy was put forward using one optical port as well as one or two operative ports. RESULTS: Ten patients presented with chest pain, dyspnea, or unexplained cough. Six tumors were incidentally diagnosed. One patient presented with a chest wall deformation. Single-lung ventilation was required in 2 cases. In 1 case of endochondroma, a segmental rib resection was performed, leaving a part of the periosteum and the intercostal vessels and nerve. In this case, rib resection was performed using an endoscopic shaver drill system. As for the other cases, a simple resection of the tumor or of the bridge between two ribs (synostosis) was performed. In these cases, a Codman Kerrison laminectomy rongeur was used. There was no complication during or after surgery. Nevertheless, 2 years after surgery, pain did not disappear in 1 case, probably due to a definitive intercostal nerve damage. CONCLUSION: Benign rib lesions in children are rare. Thoracoscopy may be offered to reduce the functional deleterious consequences of an open surgery. It may be put forward especially in case of hereditary multiple exostoses where redo procedures may be required.

Management of Polypoid Gallbladder Lesions in Children: A Multicenter Study.

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.

Early hypovolemic shock and abdominal distention due to neonatal splenic rupture: urgency of diagnosis and management.

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. CONCLUSION: 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.