Recurrence of Solid Pseudopapillary Neoplasms of the Pancreas: Results of a Nationwide Study of Risk Factors and Treatment Modalities.

BACKGROUND: Solid pseudopapillary neoplasms of the pancreas (SPPN) can relapse very late, but little is known about risk factors for recurrence and optimal treatment. We aimed to identify risk factors for recurrence and to analyze treatment modalities in all French pediatric cases of SPPN over the past 20 years. MATERIAL AND METHODS: Data were collected from pediatric oncologists and surgeons, and also from adult pancreatic surgeons in order to identify late recurrences. RESULTS: Fifty-one patients (41 girls) were identified. Median age at diagnosis was 13.1 years [8.7-17.9]. Abdominal pain was the commonest presenting symptom (32/49, 65%). The tumor was located in the pancreatic head in 24 patients (47%). Preoperative biopsy or cytology was performed in 14 cases (28%). All patients were operated with a median of 23 days [0-163] after diagnosis. The rate of postoperative morbidity was 29%. With a median follow-up of 65 months [0.3-221], the overall and event-free survival was 100% and 71%, respectively. Seven patients (13.7%) relapsed with a median of 43 months [33-94] after initial surgery. Six were treated surgically, either alone (n = 3) or with perioperative chemotherapy (n = 2) or hyperthermic intraperitoneal chemotherapy (n = 1). One patient in whom further treatment was not feasible was still alive at last news. Risk factors for recurrence were positive surgical margins (P = 0.03) and age less than 13.5 years at diagnosis (P = 0.03). CONCLUSIONS: SPPN recurrence in this pediatric series was a rare and late event that did not undermine overall survival. Complete surgical removal of recurrent tumors appears to be the best option.

Results from the French National Esophageal Atresia register: one-year outcome.

BACKGROUND: The aim of the present national prospective population-based study was to assess the early morbidity of esophageal atresia (EA). METHODS: All 38 multidisciplinary French centers that care for patients with EA returned a specific questionnaire about the 1-year outcome for each patient. This information was centralized, checked, and entered into a database. RESULTS: From the total population of 307 EA patients born in 2008 and 2009, data about the 1-year outcome were obtained from 301 (98%) patients, of whom 4% were lost to follow-up and 5% died. Medical complications occurred in 34% of the patients: anastomotic leaks (8%), recurrent tracheoesophageal fistula (4%), and anastomotic stenosis (22%); all of the latter group needed dilation (median, 2 dilations/patient). A new hospitalization was required for 59% of patients (2.5 hospitalizations/patient) for digestive (52%) or respiratory (48%) reasons. Twelve percent of patients required antireflux surgery at a median age of 164 days (range, 33-398 days), and 1% underwent an aortopexy for severe tracheomalacia. The weight/age Z-score was -0.8 (range, -5.5 to 3.7 months) at 12 months. Fifteen percent of patients were undernourished at 12 months of age, whereas 37% presented with respiratory symptoms and 15% had dysphagia at the last follow-up. Significant independent factors associated with medical complications were anastomotic esophageal tension (p = .0009) and presence of a gastrostomy (p = .0002); exclusive oral feeding at discharge was associated with a decreased risk of complications (p = .007). CONCLUSIONS: Digestive and respiratory morbidities remain frequent during the first year of life and are associated with difficult anastomosis and lack of full oral feeding.

Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2.

The molecular basis of male disorders of sex development (DSD) remains unexplained in a large number of cases. EMX2 has been proposed to play a role in the masculinization process for the past two decades, but formal evidence for this causal role is scarce. The aim of this study is to yield additional support to this hypothesis by reporting on a male patient who presented with 46,XY DSD, a single kidney, intellectual disability, and the smallest microdeletion including EMX2 reported to date. EMX2 haploinsufficiency is likely to explain the masculinization defect observed in our patient, similar to what has been described in the mouse. In the case of cytogenetically diagnosed cases, deletions of EMX2 have been associated with a wide range of DSD, ranging from hypospadias to complete sex reversal.

Long-term incidence of febrile UTI after DxHA treatment of VUR.

PURPOSE: To assess the long-term incidence of febrile urinary tract infection (fUTI) in children treated by endoscopic injection of dextranomer/hyaluronic acid (DxHA) for vesicoureteral reflux (VUR). MATERIALS AND METHODS: Prospective study from January 2002 to December 2009 in children treated at our institution for VUR by endoscopic injection of DxHA. All children underwent clinical and renal/bladder ultrasound follow up at 3 months after procedure, then annually. Post-operative voiding cystourethrogram (VCUG) control was performed only for patients with recurrent fUTI. RESULTS: 227 children (177 female) were included. Mean patient age at inclusion was 4.7 years. The mean duration of follow-up was 51.6 months. During follow-up, 18.9% had one or several fUTIs, of whom 48.8% had VUR at VCUG. No recurrence of fUTI was observed after 4 years of follow-up. We identified three risk factors for fUTI recurrence: cystitis cystica at the time of injection (p = 0.007), preoperative renal scarring (p = 0.018), and the disappearance of the implant at 3-month follow-up ultrasound (p = 0.037). CONCLUSIONS: The long-term incidence of recurrent fUTI after endoscopic treatment of VUR is low. Our data show that the clinical results of endoscopic treatment should be interpreted with a follow up of at least 4 years.

Esophageal atresia: data from a national cohort.

PURPOSE: A prospective national register was established in 2008 to record all new cases of live-birth newborns with esophageal atresia (EA). This epidemiological survey was recommended as part of a national rare diseases plan. METHODS: All 38 national centers treating EA participated by completing for each patient at first discharge a questionnaire validated by a national committee of experts. Data were centralized by the national reference center for esophageal anomalies. Quantitative and qualitative analyses were performed, with P-values of less than 0.05 considered statistically significant. Results of the 2008-2009 data collection are presented in this report. RESULTS: Three hundred seven new living cases of EA were recorded between January 1, 2008, and December 31, 2009. The male/female sex ratio was 1.3, and the live-birth prevalence of EA was 1.8 per 10,000 births. Major characteristics were comparable to those reported in the literature. Survival was 95%, and no correlation with caseload was noted. CONCLUSIONS: Epidemiologic surveys of congenital anomalies such as EA, which is a rare disease, provide valuable data for public health authorities and fulfill one important mission of reference centers. When compared with previous epidemiological data, this national population-based registry suggests that the incidence of EA remains stable.

Robot-assisted surgery: current status evaluation in abdominal and urological pediatric surgery.

PURPOSE: The last two decades have witnessed a dramatic development of minimally invasive surgery (MIS). Robotic-assisted surgery is currently the latest step in the evolution of MIS. MIS was initially developed for adult surgery, but its use has progressively been extended to pediatrics. As for all new technologies, an objective evaluation is essential to adopt the robot in the practice of pediatrics. MATERIALS AND METHODS: This article reviews the spectrum of evidence regarding the feasibility, safety, benefits, and limitations of abdominal and urological robot-assisted surgery in children. This analysis was performed using the PubMed database, using key words such as "robot," "robotic surgery," "robot-assisted," "da Vinci," and "computer-enhanced surgery" combined with "child," "children," "infants," and "pediatric." RESULTS: In total, 88 studies met the selection criteria for our review. Only 10 studies comparing robotic surgery with open or conventional laparoscopic surgery are available for abdominal or urological pediatric procedures. Fundoplication for gastroesophageal reflux and pyeloplasty for hydronephrosis represent the most frequent procedures performed with robotic assistance in children. CONCLUSIONS: Robotic surgery is suitable in the pediatric practice, which necessitates fine dissections and sutures in narrow anatomical spaces. The initial results of robotic surgery in the field of pediatrics are encouraging. Further prospective and comparative studies, especially between robotic and laparoscopic approaches, are required to confirm these preliminary results.

Short and long-term quality of life after reconstruction of bladder exstrophy in infancy: preliminary results of the QUALEX (QUAlity of Life of bladder EXstrophy) study.

PURPOSE: The aim of the study was to assess quality of life (QOL) of patients born with bladder exstrophy (BE) and reconstructed during early childhood in 7 French university hospitals (QUALEX study: QUAlity of Life of bladder EXstrophy). METHODS: Patients from 6 to 42 years old answered self-administered Short-Form 36 (SF-36), VSP-A (Vécu et Santé Perçue de l'Adolescent), VSP-AE (Vécu et Santé Perçue de l'Enfant), AUQUIE (AUto-QUestionnaire Imagé de l'Enfant), and general questionnaires about functional and socioeconomic data. Dimension scores were compared between adults and adolescents using SF-36 and adolescents and children using VSP-AE. Scores were also compared to the general French population. RESULTS: Among the 134 eligible patients, 36 adults, 18 adolescents, and 17 children answered the questionnaire. There was no difference between responders and nonresponders in reconstruction criteria. Continence was achieved in 77% of adults, 65% of adolescents, and 12% of children. Adolescent QOL was globally superior to adults and children. Adult QOL was globally lower than the general population except on the physical dimension. Children's QOL was also globally lower than the general population except for relations with family and school work. Adolescents' scores on SF-36 were superior to the general population but lower on half of the dimensions with VSP-AE. CONCLUSION: Patients presenting with reconstructed BE have impaired QOL, and functional results seem to be the most likely predictive factor of health-related QOL score.

Follow-up and surgical management of Peutz-Jeghers syndrome in children.

BACKGROUND: Peutz-Jeghers syndrome (PJS) is an autosomal dominant syndrome with an increased risk of polyposis complications and intestinal and extraintestinal tumours. METHODS: During the last 15 years, we reviewed a series of 11 children with PJS, with special attention to evolution and follow-up. Diagnosis was based on at least 1 hamartomatous polyp associated with 2 of the 3 following criteria: family record of PJS, polyposis localised on small bowel, and mucocutaneous pigmentation. Diagnosis of PJS also could be raised by a single genetic analysis of STK11 gene. RESULTS: Median age at beginning of symptoms was 6 years old. Seven of the 11 children had genetic tests, which were positive for STK11 gene mutation. Among the 10 children presenting with gastrointestinal complications, 8 were operated on, 6 had at least 1 small bowel resection, and 4 had repeat surgery for recurrent intussusceptions. In case of complications leading to a surgical procedure, we performed intraoperative enteroscopy to remove all large polyps. To prevent any polyposis complications, we suggest a complete check-up of polyposis topography with some of the new endoscopic tools, either double-balloon endoscopy or videocapsule endoscopy. CONCLUSIONS: Children with PJS have a high risk of numerous laparotomies due to polyps' complications. Therefore, a screening of intestinal polyposis by videocapsule endoscopy is recommended, as well as a screening of the most frequent sites of cancers for the patient's whole life. During any abdominal procedure, they should have an intraoperative endoscopy, this management allowing an increased time interval between 2 laparotomies.

Prenatal diagnosis of a fetal abdominal eventration: a rare congenital abdominal wall defect.

We report a case of abdominal eventration associated with cystic fibrosis, diagnosed by mid-trimester ultrasonography. The defect concerned the abdominal muscles and their aponevrotic sheath, but respected the skin. There was no associated malformation. The outcome was favorable after surgery, and the infant is well at the age of 6 months.

[Malignant rhabdoid tumor of the liver with spontaneous rupture: a case report]. / Tumeur rhabdoïde hépatique maligne avec rupture spontanée: à propos d'un cas.

We report the case of an 8-year-old child, presenting a rhabdoid tumor of the liver with spontaneous rupture, revealed by an intra-abdominal bleeding with rapidly fatal course. This clinical and pathological report raises the problem of the differential diagnosis of primary malignant hepatic tumors of the child with no alpha-foetoprotein increase.

Congenital paravertebral arteriovenous fistula: a case report.

Congenital paraspinal arteriovenous fistulae are rare and usually diagnosed after neurologic or cardiovascular manifestations. They may be discovered unexpectedly in children during clinical examination, which reveals the presence of a vascular murmur. The association with multicystic kidney is exceptional. We report 1 case with thoracic localization of a congenital paraspinal arteriovenous fistula associated with a multicystic kidney in a 3-year-old boy who was treated by endovascular embolization.

An exceptional type of anorectal malformation: anorectal atresia with posterior fistula in a newborn male.

The authors report the case of a newborn male with an exceptional type of anorectal atresia with a fistula that passes posterior to the muscle complex and exits at a site just to the tip of the coccyx. This anorectal malformation was associated with other abnormalities including agenesis of the right kidney, pyelic dilatation of the left kidney, duplicity, and left megaureter. There was no defect in the spine. The anorectal malformation was managed successfully by a posterior sagittal approach according to the Pena procedure.

[Gestational diabetes and urinary tract malformations: a hospital case-control study]. / Diabète gestationnel et malformations de l'appareil urinaire: une étude cas témoins en milieu hospitalier.

INTRODUCTION: Urinary tract malformations represent the leading cause of renal failure in children. Gestational diabetes plays a controversial role in the development of urinary tract malformations. The purpose of this study was to assess the role of insulin-requiring gestational diabetes on the development of ureteric malformations in children. MATERIAL AND METHODS: The authors report the results of a prospective case-control survey (102 cases, 104 controls) conducted in a teaching hospital. The role of insulin-requiring gestational diabetes on the development of urinary tract malformations was tested by logistic regression after adjustment for risk factors for urinary tract malformations 'family history of urinary tract malformations, parity, smoking, substance abuse during pregnancy). RESULTS: Gestational diabetes is a risk factor for urinary tract malfornations after adjustment (aOR=5.1; 95%CI: 1.1-24.5), and for ureteropelvic junction syndrome (aOR=6.5; 95%CI: 1.1-39.4) and vesicoureteric reflux (aOR=5.9; 95%CI: 1.1-32.1). CONCLUSION: All perinatal healthcare professionals must be familiar with the concept of insulin-requiring gestational diabetes as an uncommon, but fairly powerful risk factor for ureteric malformations.

[Vesicoureteric reflux in children: long-term results of endoscopic treatment by Macroplastique injection]. / Reflux vésico-urétéral chez l'enfant: résultats à long terme du traitement endoscopique par injection de Macroplastique.

OBJECTIVE: To evaluate the long-term efficacy (from the fifth year after injection and up to seven years) of endoscopic treatment by Macroplastique implant for vesicoureteric reflux (VUR) in children, sometimes associated with urological malformations or renal complications. The secondary objective was to evaluate the local tolerance of the Macroplastique implant and the development of any local (haematuria, stones, ureteric stasis) or distant complications. MATERIAL AND METHODS: Retrospective analysis of the medical files of 389 patients, representing a total of 590 refluxing ureters treated by Macroplastique injection in eight different centres. RESULTS: With a follow-up of 5 to 7 years, reflux had not recurred in 309 of the 389 cases, i.e. 79.4% of cases and no case of ureteric stricture was observed. CONCLUSION: The good short-term results in terms of correction of reflux by Macroplastique injection and the very low morbidity are maintained with time. It therefore appears legitimate to propose endoscopic treatment of VUR by first-line Macroplastique injection instead of surgical ureteric reimplantation.

Current management of infants with fetal renal pelvis dilation: a survey by French-speaking pediatric nephrologists and urologists.

To analyze the current management recommendations among French-speaking physicians treating infants with antenatal renal pelvis dilatation, we surveyed 83 pediatric nephrologists and 68 pediatric urologists by questionnaire. A total of 45 (54%) pediatric nephrologists and 38 (56%) pediatric urologists responded. The threshold for the diagnosis of abnormal fetal renal pelvis dilatation was significantly higher among pediatric urologists than nephrologists. All responders perform renal ultrasound examinations after birth. Postnatal renal pelvis dilatation was considered abnormal if the anteroposterior diameter was >/=11+/-1.9 mm by the pediatric urologists and >/=9+/-2.9 mm by the pediatric nephrologists ( P=0.003). Pediatric urologists were more likely than nephrologists to recommend routine voiding cystourethrography [41% versus 20% ( P=0.04)]. Mercaptoacetyl-triglycine renography was the most routinely used tool to achieve functional evaluation during follow-up among the responders. Pediatric urologists were more likely to recommend surgical treatment in dilated kidneys with initial function <40%. In conclusion, pediatric urologists had significantly higher thresholds for the detection of prenatal and neonatal renal pelvis dilatation. They also more frequently recommended routine voiding cystourethrography and surgical therapy of dilated kidneys with low function than pediatric nephrologists. The variability in attitudes is most probably due to the absence of clear guidelines based on prospective and controlled trials.

[Bladder augmentation cystoplasty with continent urinary diversion by ileo-caeco-appendicular graft in children]. / Agrandissement vésical avec dérivation étanche par bloc iléo-caeco-appendiculaire chez l'enfant (technique ARDE: Agrandissement Réimplantation Dérivation Etanche).

OBJECTIVE: Description of augmentation cystoplasty combined with continent urinary diversion using an ileo-caeco-appendicular graft in children. MATERIAL AND METHOD: Augmentation cystoplasty combined with Mitrofanoff appendicostomy and reimplantation of the ureters into the ileal stump was performed during a single operation in two patients (a 3-year-old girl and an 8-year-old boy). The indications were a pseudoneurogenic bladder with major dilatation of the upper tract due to high-grade reflux in one case and a small scarred bladder after repeated failure of repeated surgery for duplicated ureterocele in another case. RESULTS: A bladder capacity of about 300 ml was obtained in the 2 children. Incontinence was managed by intermittent catheterization via the abdominal stoma. Upper urinary tract dilatation had resolved after one year. CONCLUSION: This technique is useful in certain complex urological situations combining a small, poorly compliant bladder, destruction of continence and severe upper tract dilatation. In these situations, it constitutes a conservative alternative to salvage diversion.

Interobserver reliability in the interpretation of radiologic signs in Legg-Calvé-Perthes disease.

An accurate interpretation of radiographs is crucial in determining therapeutic choices in Legg-Calvé-Perthes disease. The aim of this study was to measure the interobserver reliability of a group of surgeons in this condition. Twenty-three radiographs were shown to nine pediatric orthopedic surgeons at nine different medical centers. Differences in coding between members of the group was assessed using a two-way random factor analysis of variance. Reliability was excellent for the Catterall classification [intraclass correlation coefficient (ICC) = 0.94], and good for the stage of disease and Head at Risk signs (ICC ranging from 0.74 to 0.85) except for lateral subluxation, whose reliability is fair (ICC = 0.68). Analysis of results shows that lateral subluxation should be expressed in a quantitative measurement rather than a binary answer. The reliability of Gage's sign would be improved if multiple definitions did not exist in the literature. In experienced hands, Catterall's classification can be used with reliability. Difficulties are still noted in separating group II frorm group III.