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Background Pediatric renal cancer survivors have higher rate of chronic renal disease and hypertension. These patients have similar survival rates when treated according to either Children's Oncology Group (COG) or International Society of Pediatric Oncology (SIOP) protocols. We aimed to compare the late outcome of these two approaches. Methods We performed a meta-analysis of all studies from 2000 to 2021; database search using keywords: long-term outcomes OR late effects, nephrectomy, pediatric renal cancer. For each protocol, data were collected, and the “pooled” outcomes were compared. Continuous and dichotomous variables were obtained with a 95% odds ratio. Results Sixteen studies with a total of 715 pediatric renal cancer survivors were analyzed. The mean follow-up time was 17.4 (standard deviation 5.6) years. Reduced renal function and hypertension were the most encountered long-term complications. The mean estimated glomerular filtration rate was similar in both protocols (101.62 vs. 101.70 mL/min/1.73 m2), while the prevalence of hypertension was 23% in COG and 10% in SIOP. The prevalence of secondary malignancy was 1.1% in COG and 6.7% in SIOP (1.1% vs. 6.7%, p ≤ 0.001). Chronic kidney disease was similar in both groups. Conclusion A high prevalence of hypertension was observed among pediatric renal cancer survivors, as well as an increased risk of a secondary tumor. These results emphasize the importance of long-term follow-up into adulthood, to promptly diagnose any long-term side effects of the treatment. Thanks to the increased overall survival, future protocols will pay attention to the reduction of long-term sequelae.

Glypican-3 (GPC3) is an oncofetal protein involved in cellular signaling, strongly expressed in the placenta, absent or diminished in postnatal life, but often increased in human malignancies. Germline loss-of-function variants of GPC3 gene are associated with Simpson-Golabi-Behmel syndrome type 1 (SGBS1), a rare recessive X-linked overgrowth disease characterized by typical facial features, congenital abnormalities, and an increased risk of developing childhood cancers.A clinical suspicion of SGBS1 was postulated for a newborn with prenatal history of overgrowth and polyhydramnios, presenting with neonatal weight and length99th percentile, coarse facies, iris and retinal coloboma, supernumerary nipples, and splenomegaly. While waiting for whole-genome sequencing (WGS) results, we investigated placental GPC3 immunohistochemical expression in the proband, in three additional cases of SGBS1, and disorders commonly associated with fetal macrosomia and/or placentomegaly.WGS in the proband identified a likely pathogenic maternally inherited missense variant in GPC3: c.1645A G, (p.Ile549Val), and GPC3 immunohistochemistry demonstrated full-thickness loss of stain of the placental parenchyma. The same pattern ("null") was also present in the placentas of three additional cases of SGBS1, but not in those of unaffected controls.Immunohistochemical expression of GPC3 in the placenta is highly reproducible. Our findings showed that a "null pattern" of staining is predictive of SGBS1 and represents a valuable aid in the differential diagnosis of fetal macrosomias, allowing targeted genetic testing and earlier diagnosis.

Introduction Surgery plays a key role in the management of Neuroblastic tumours (NB), where the standard approach is open surgery, while minimally invasive surgery (MIS) may be considered an option in selected cases. The indication(s) and morbidity of MIS remain undetermined due to small number of reported studies. The aim of this study was to critically address the contemporary indications, morbidity and overall survival (OS) and propose guidelines exploring the utility of MIS for NB. Materials & Methods: A SIOPEN study where data of patients with NB who underwent MIS between 2005 and 2018, including demographics, tumour features, imaging, complications, follow up and survival, were extracted and then analysed. Results A total of 222 patients from 16 centres were identified. The majority were adrenal gland origin (54%) compared to abdominal non-adrenal and pelvic (16%) and thoracic (30%). Complete and near complete macroscopic resection (>95%) was achieved in 95%, with 10% of cases having conversion to open surgery. Complications were reported in 10% within 30 days of surgery. The presence of IDRF (30%) and/or tumour volume >75 ml were risk factors for conversion and complications in multivariate analysis. Overall mortality was 8.5%. Conclusions MIS for NB showed that it is a secure approach allowing more than 95% resection. The presence of IDRFs was not an absolute contraindication for MIS. Conversion to open surgery and overall complication rates were low, however they become significant if tumour volume >75 mL. Based on these data, we propose new MIS guidelines for neuroblastic tumours.

Background: Lymphangiomas represent 5% of all benign pediatric tumors. Abdominal lymphangiomas (ALs) are extremely rare. Therapy includes surgery, sclerotherapy, or pharmacological treatment. Lapar...

Purpose: We performed a retrospective study to determine the effectiveness and feasibility of articulating linear stapler in laparoscopic total splenectomy (LTS) and laparoscopic partial splenectomy (LPS), focusing on technical laparoscopic skills that could help pediatric surgeons to avoid intra- and postoperative complications. Methods: Retrospective cohort study of children younger than 18 years who underwent laparoscopic spleen surgery between January 2008 and March 2020. Age, sex, indication for surgery, operative time (OT), intra- and postoperative complications, and postoperative length of hospital stay (LHS) were analyzed. Data from parenchymal resection and vessels sealing techniques were obtained. Results: Thirty patients, 19 LTS and 11 LPS, were included. The mean age of the patients was 10.9 years, and 16 patients were male and 14 were female. For hematologic diseases, LTS was the elective surgery, associated with cholecystectomy in 5 cases. LPS was the common procedure for splenic cysts. The stapler was used in LTS to close the hilum vessels and in LPS for parenchymal resection. No statistically significant differences in OT were observed comparing LTS and LPS. Two conversions occurred in LTS; none in LPS. The mean LHS was 6 days in both groups. No recurrence or major complications appeared in both groups at 1-12 years of follow-up. In particular for LPS, there are no relapse of cyst neither reduction in splenic function. Conclusions: This study shows the effectiveness, feasibility, and safety of mechanic stapler in splenic surgery both for hilum vessels sealing and for parenchymal resection. The use of this device can reduce risk of hemorrhagic recurrences or major surgical complications improving the safety of the operation.

Eosinophilic gastrointestinal disorders are rare in children and present with a broad spectrum of non-specific symptoms. To date, no guidelines for diagnosis, therapy and follow-up are validated. Aim of our study is to focus on eosinophilic colitis (EC), to determine a possible correlation between associated disorders, macroscopic findings and treatment/follow up. Retrospective study from 2015 to 2019 including all colonoscopies performed at our Institution. Eosinophilic colitis was defined according to the threshold identified by Collins: > 100 Eo/Hpf: right colon, > 84 Eo/Hpf transverse and left colon, > 64 Eo/Hpf sigma and rectum. We excluded colonoscopy in patients with IBD or other diseases causing hypereosinophilia (i.e., parasite infection, GVHD). Among 399 colonoscopies performed in 355 patients, we made 50 diagnosis of EC, 36 males, 14 females, median age 8.5 (3–17). Symptoms leading to endoscopy were recurrent abdominal pain (66%), chronic diarrhea (64%), and chronic constipation (8%). Two patients presented with GI bleeding and one with weight loss. Macroscopic findings were mostly normal or lymphoid nodular hypertrophy presenting different endoscopic features. In seven children (14%) we found history of allergy and atopy. 22 children present a diagnosis of autistic spectrum disorder (ASD) with a prevalence higher than in the overall population (44% vs 28.5%, p = 0.03). According to symptoms, treatment consist variably of steroids, six food elimination diet, mesalamine. For patients with available follow-up, we found histological persistence of Eosinophils in 75%, even in patients with symptoms relief. This study focus attention on EC as a new challenging pathology. Multicentric randomized clinical trials are needed to understand physiopathological mechanisms to validate a possible endoscopic score and related histological threshold, and to standardize therapy according to clinical features and instrumental findings. The high prevalence of EC in ASD need further specific research.

Lipschutz ulcers (LU) are idiopathic genital lesions characterized by the sudden appearance of painful, usually symmetric vulvar ulcers, typically occurring in sexually inactive adolescents. LU is a diagnosis of exclusion. As these lesions heal spontaneously, in the absence of tissue scarring, the therapy is mainly symptomatic and focuses on pain relief. Recurrence of LU associated with oral ulcers describes the clinical picture of complex aphthosis, which belongs to Behçet's disease (BD) pathological spectrum. Our work aims to analyze the correct diagnostic approach to recurrent aphthous, focusing on the importance of a multidisciplinary assessment and immunogenetic investigation to identify the subjects at risk of progression towards BD. Methods: We present the case of a 12-year-old non sexually active Italian girl who was diagnosed with LU. After 15 months, she presented recurrent reactive non sexually related acute genital ulcer associated with a history of oral aphthous. According to clinical features and anamnesis, complex aphthosis was diagnosed. For diagnostic purposes, she underwent an immunogenetic analysis that showed HLA-B51 positivity.In the absence of clinical and laboratory criteria to define the risk of progression of complex aphtosis towards BD, we think that besides a strict follow-up, in pediatric patients with a suggestive clinical history, it is crucial to adopt a multidisciplinary approach, comprehensive of HLA investigation, in order to guarantee an early diagnosis and a prompt therapeutic intervention.In children and adolescents with genital ulcers, it is essential to consider all the possible differential diagnoses to undertake a timely and correct course of treatment.

Disorders of sexual differentiation (DSD) with karyotype 46,XY include gonadal developmental differences such as complete gonadal dysgenesis, partial gonadal dysgenesis, testicular regression and ovotesticular sexual differentiation disorder, differences in androgen synthesis or action, such as androgen synthesis deficiency, androgen action deficits, LH receptor deficiency, AMH synthesis or action deficits, and other conditions such as severe hypospadias, cloaca estrophy, etc. Methods: A 17 years-old girl came to our attention for hirsutism, clitoral hypertrophy, primary amenorrhea, and bilateral mammary hypoplasia. According to clinical features and anamnesis, the diagnosis of 46, XY DSD was made. For diagnostic purposes, she underwent an extensive genetic analysis, hormone dosage and instrumental examinations. After a clitoridoplasty and hormone replacement treatment, the patient performs appropriate multidisciplinary follow-up and regular psychotherapy.The clinical case reported falls, according to the recent classification developed by the Chicago Consensus, within the scope of DSD with karyotype 46, XY. About 160 cases of patients with 17β-HSD3 deficiency, diagnosed at a mean age of 12 years, are described in the literature, most of them coming from Western Asia and Europe and only three cases from Eastern Asia. Clinically, about 30% of patients showed virilization, 20% clitoromegaly, ambiguous genitalia, inguinal/labial mass, 16% primary amenorrhea, and 5% absence of mammary development, features that are partly traced in the case described here.This case underscores the complexity of managing individuals with DSD. Having acquired the concept that irreversible surgery should be avoided, except in cases where failure to do so would determine health risks, the primary objective of the medical decision lies in meeting conditions aimed at harmonious sexual identification, especially regarding sexual activity and fertility, involving a team of experienced professionals (psychologists, pediatricians, surgeons, endocrinologists, radiologists), capable of promptly identifying suggestive clinical signs.

Background Pediatric robotic-assisted surgeries have increased in recent years; however, guidance documents are still lacking. This study aimed to develop evidence-based recommendations, or best practice statements when evidence is lacking or inadequate, to assist surgical teams internationally. Methods A joint consensus taskforce of anesthesiologists and surgeons from the Italian Society of Pediatric and Neonatal Anesthesia and Intensive Care (SARNePI) and the Italian Society of Pediatric Surgery (SICP) have identified critical areas and reviewed the available evidence. The taskforce comprised 21 experts representing the fields of anesthesia (n = 11) and surgery (n = 10) from clinical centers performing pediatric robotic surgery in the Italian cities of Ancona, Bologna, Milan, Naples, Padua, Pavia, Perugia, Rome, Siena, and Verona. Between December 2020 and September 2021, three meetings, two Delphi rounds, and a final consensus conference took place. Results During the first planning meeting, the panel agreed on the specific objectives, the definitions to apply, and precise methodology. The project was structured into three subtopics: (i) preoperative patient assessment and preparation; (ii) intraoperative management (surgical and anesthesiologic); and (iii) postoperative procedures. Within these phases, the panel agreed to address a total of 18 relevant areas, which spanned preoperative patient assessment and patient selection, anesthesiology, critical care medicine, respiratory care, prevention of postoperative nausea and vomiting, and pain management. Conclusion Collaboration among surgeons and anesthesiologists will be increasingly important for achieving safe and effective RAS procedures. These recommendations will provide a review for those who already have relevant experience and should be particularly useful for those starting a new program.

Background: Over the last 30 years, the incidence of pediatric urolithiasis (PU) has been increasing and the surgical management has evolved toward a minimally invasive approach (MIA). We reported the experience of two Centers of Pediatric Surgery in the management of PU, focusing on MIA as first choice in treatment. Methods: Data were retrospectively analyzed from October 2009 to October 2019 in children with urolithiasis who were admitted to two referral Italian Centers of Pediatric Surgery. Demographic and clinical data of the patients, features of the urolithiasis, type of surgery were considered. Results: Seventy patients (7.3 ± 5.0 years) with normal renal function were treated for calculi in the pyelocaliceal system (45.7%), ureter (34.3%), bladder (4.3%), urethra (1.4%), and multiple locations (14.3%). Size of calculi was >10 mm in 55.7% of cases (kidney>bladder/urethra>multiple>ureter, p = 0.01). Symptoms were present in 75.7% of patients. Family history was positive in 16.9% of cases. MIA was performed in 59 patients (84.3%): 11.8% shockwave lithotripsy (kidney>ureter>multiple); 32.2% ureteral retrograde surgery (ureteral>other localizations); 30.5% retrograde intrarenal surgery (kidney>other localizations); and 25.4% other procedures including percutaneous nephrolithotomy, cystoscopic bladder stone removal or laser cystolithotripsy (kidney>bladder>multiple). Preoperative stenting was necessary in 52.8% of cases. Four MIA procedures (6.9%, kidney>ureter/multiple) were converted to open surgery. Open surgery was required as first approach in 15.7% of patients (kidney>ureter>multiple) who needed urgent surgery or had associated congenital renal anomalies. In 18/70 of children (25.7%), with prevalence of stones in kidney and multiple location (p < 0.01), a second procedure completed the treatment (88.8% MIA). Intraoperative difficulties were recorded in 8.5% of cases, without difference between location and size of calculi. Late complications (5.7%) were related to displacement and infection of the ureteral stent. Conclusions: MIA resulted to be feasible in more than 75% of primary surgery and in more than 85% of cases requiring a second procedure. Preoperative stent was mandatory in more than 50% of children. The technological evolution allowed to overcome many of the technical difficulties related to the approach to the papilla and lower calyxes. Open surgery is reserved for selected cases and endoscopic surgery represents the best choice of treatment for PU.

Plexiform schwannoma (PS) is a benign tumour of the peripheral nerve sheath that is typically found in the skin. Fewer than 15 cases of visceral PS have been reported to date in both adults and children. We herein discuss a series of 3 patients (2 male and 1 female) with abdominal PS, aged 10-16 years (mean age, 12 years). All the patients had an acute presentation with abdominal pain, which was associated with rectal bleeding in 1 case and with walking difficulties in 1 case. Radiological investigations included abdominal magnetic resonance imaging (MRI) and computed tomography, along with neurofibromatosis screening (cerebral MRI and dermatological evaluation). Complete removal of the mass was possible in 2 of the patients (in 1 case by laparoscopically assisted surgery). Follow-up was uneventful. Abdominal PS is a rare occurrence. Due to its possible association with neurofibromatosis, the diagnosis of PS should prompt an investigation for other manifestations of this disorder.

Background To date, few studies have been conducted in Italy on pediatric eosinophilic gastrointestinal diseases (EGIDs). Aims To assess clinical features of pediatric patients with EGIDs who are followed in a tertiary pediatric center. Methods From January 2015 to December 2019, we retrospectively enrolled patients with EGIDs, and collected clinical, endoscopic, and histological data. Results We enrolled 112 patients, 75.8% were male. Mean age was 9.3 ± 4.8 years. Diagnosis of EGIDs has increased in the last two years, with non-esophageal EGIDs more prevalent than eosinophilic esophagitis (EoE) (5.1% vs. 4.4%). Approximately 30% of patients had allergic comorbidities, which prevailed in children with EoE. Autism spectrum disorders were common in patients with non-esophageal EGIDs (p = 0.007), a statistically significant finding. In addition, esophageal atresia was associated with EoE (p = 0.04). Most EGIDs patients had normal findings or an inflammatory endoscopic phenotype. Patients with EoE were mainly treated with proton pump inhibitors (PPIs) alone or in combination with swallowed steroids. PPIs, oral steroids, and food-elimination diets were prescribed to patients with non-esophageal EGIDs. Conclusion This is the first Italian study revealing an increased frequency of EGIDs in a pediatric population. Further studies are needed to characterize patients with these emerging diseases.

Background: Long-term negative sequelae of esophageal atresia (EA) may induce poor growth and impaired nutritional status in childhood. We describe the nutritional profile and energy metabolism of children with repaired EA to identify malnutrition risk factors and optimize growth management. Methods: Twenty-one children (&gt, 4 years) were included, and anthropometric measurements, nutritional assessment, and energy metabolism were considered. The subjects were defined as undernourished if they met BMI &lt, &minus, 2 standard deviation (SD). To grade undernutrition, we defined the prevalence of underweight, stunting, and wasting (cut-off level of &lt, 2 SD). Medical records were reviewed for the type of EA and surgery and perinatal data. Results: Malnutrition was detected in 28.6% of children. Underweight was detected in 23.8% of patients (all with undernutrition p &lt, 0.01). Wasting was noted in 28.6% of patients, of these 5 children were undernourished (p &lt, 0.001) and stunting was noticed in only one patient with malnutrition (p = 0.5). Resting expenditure energy (REE) was lower in undernourished subjects compared to subjects with adequate nutritional status (p &lt, 0.001). Malnutrition was associated to: type of EA (p = 0.003, particularly type A and C), intervention including deferred anastomosis due to long-gap repair (p = 0.04) with/or without jejunostomy (p = 0.02), gastric pull-up (p = 0.04), primary anastomosis (p = 0.04), pyloromyotomy in long-gap (p &lt, 0.01), small for gestational age condition (p = 0.001). Conclusions: undernutrition risk factors, beyond the type of malformation, surgery, and perinatal factors, must be early considered to personalize nutritional programming. Energy metabolism is important to monitor the nutritional requirements. The management of nutritional issues is surely a contributory factor able to counteract the poor growth of children with EA.

Primary Obstructive Megaureter (POM) is a common cause of hydronephrosis in children with spontaneous resolution in most cases. High-Pressure Balloon Dilatation (HPBD) has been proposed as a minimally invasive procedure for POM correction in selected patients. The aim of the paper is to review our experience with HPBD in patients with POM. We performed a retrospective study in a single Centre collecting data on patients’ demographics, diagnostic modalities, surgical details, results and follow-up. In particular, the endoscopic aspect of the orifice permitted the identification of 3 patterns: adynamic ureteral segment, stenotic ureteric ring and pseudoureterocelic orifice. We performed HPBD in 30 patients over 6 years. We had 23 patients with adynamic distal ureteral segment (type 1), 4 with stenotic ring (type 2) and 3 with ureterocelic orifice (type 3). In 3 patients (10%) the guidewire did not easily pass into the ureter requiring ureteral stenting or papillotomy. Post-operative course was uneventful. Five patients (3 pseudoureterocelic) required open surgery during follow-up. HPBD for the treatment of POM is a safe and feasible procedure and it can be a definitive treatment of POM. Complications are mainly due to double J stent and none of our patients had symptoms related to vescico-ureteral reflux. The aspect of the orifice, identified during cystoscopy, seems to correlate with the efficacy of the dilatation: type 1 and 2 are associated with good and excellent results respectively; type 3 do not permit dilatation in almost all cases requiring papillotomy. HPBD can be performed in selected patients of all paediatric ages as first therapeutic line. The presence of a pseudoureterocelic orifice or long stenosis might interfere with the ureteral stenting and seems associated with worse outcomes.

To compare postnatal magnetic resonance imaging (MRI) with the reference standard computed tomography (CT) in the identification of the key features for diagnosing different types of congenital lung malformation (CLM). Respiratory-triggered T2-weighted single-shot turbo spin echo (ss-TSE), respiratory-triggered T1-weighted turbo field echo (TFE), balanced fast field echo (BFFE), and T2-weighted MultiVane sequences were performed at 1.5 T on 20 patients prospectively enrolled. Two independent radiologists examined the postnatal CT and MRI evaluating the presence of cysts, hyperinflation, solid component, abnormal arteries and/or venous drainage, and bronchocele. Diagnostic performance of MRI was calculated and the agreement between the findings was assessed using the McNemar-Bowker test. Interobserver agreement was measured with the kappa coefficient. CT reported five congenital pulmonary airway malformations (CPAMs), eight segmental bronchial atresias, five bronchopulmonary sequestrations (BPS), one congenital lobar overinflation, one bronchogenic cyst, and three hybrid lesions. MRI reported the correct diagnosis in 19/20 (95%) patients and the malformation was correctly classified in 22/23 cases (96%). MRI correctly identified all the key findings described on the CT except for the abnormal vascularization (85.7% sensitivity, 100% specificity, 100% PPV, 94.1% NPV, 95% accuracy for arterial vessels; 57.1% sensitivity, 100% specificity, 100% PPV, 84.2% NPV, 87% accuracy for venous drainage). MRI can represent an effective alternative to CT in the postnatal assessment of CLM. In order to further narrow the gap with CT, the use of contrast material and improvements in sequence design are needed to obtain detailed information on vascularization, which is essential for surgical planning. • Congenital lung malformations (CLMs) can be effectively studied by MRI avoiding radiation exposure. • Crucial features of CLM have similar appearance when comparing CT with MRI. • MRI performs very well in CLM except for aberrant vessel detection and characterization.

Purpose To evaluate clinical features at diagnosis, prognostic factors, and outcomes of malignant sacrococcygeal germ cell tumors (SC-GCTs) in patients enrolled in the Associazione Italiana Ematologia Oncologia Pediatrica (AIEOP) TCG 2004 protocol. Patients and methods A prospective analysis was conducted on all consecutive patients diagnosed with malignant SC-GCTs between January 2004 and May 2017. Patients with stage I underwent surgery and subsequent surveillance, the others received pediatric cisplatinum-etoposide-bleomycin (pPEB) regimen and eventual deferred surgery. Results Of 45 patients, 35 were females. Age at diagnosis ranged from 1 day to 3.6 years (median 1.6 years); 26 were stage IV. Of 38 patients who underwent surgery, pathology revealed yolk sac tumor (YST) in 27 and teratoma + YST/embryonal carcinoma in 11, while seven patients were diagnosed based on imaging and elevated levels of alpha-fetoprotein (AFP). Of six patients approached with surgery, only one relapsed and was rescued with first-line chemotherapy. Overall, 38 out of 45 achieved complete remission, three a partial remission, and four were resistant. Ten out of 41 patients who entered remission later relapsed and nine were rescued with a second-line treatment. We observed a global failure percentage of 31% and a 5-year overall survival (OS) and event-free survival (EFS) of 95% and 69%, respectively. Conclusions Chemotherapyis generally effective in malignant SC-GCTs, even though almost one-third of our patients experienced events salvageable with second-line treatment. Most of the relapses occurred within 1 year from diagnosis. A close follow up with serial AFP level monitoring should be done for at least 2 years after diagnosis.

Monochorionic twins, resulting from a single fertilized egg giving rise to two separate embryos, are monozygotic and considered genetically identical. However, discordant phenotypes have been reported in monozygotic twins. We analyzed a retrospective cohort of 155 monochorionic pregnancies (312 twins) with major discordant structural anomalies coded by the ICD-10 system in order to describe the spectrum of anomalies, the management of the pregnancies, and the perinatal outcome. Treatment options included conservative management, selective feticide with bipolar cord coagulation, or complete termination. All survivors underwent at least 24 months of postnatal follow-up. Discordancy was complicated by twin-to-twin transfusion syndrome in eight pregnancies (5%) and by selective intrauterine growth restriction in 41 (26%). Major structural anomalies affected one system in 139 cases (90%) and multiple systems in 16 (10%). Median gestational age at diagnosis was 19.1 weeks (IQR 16.4–21.3). The most frequent single-system anomalies involved the nervous and circulatory systems. In total, 72 anomalous twins (46%) and 116 normal co-twins (74%) were delivered at a median gestational age of 34.6 weeks (IQR 31.0–36.3). Neonatal/infant death of the anomalous twin occurred in 22 cases (14%), with an overall survival rate of 32% (50/155). Surviving anomalous twins underwent major surgery in 22/50 cases (44%), four of whom (8%) now suffer from severe neurologic morbidity. This study shows that a wide spectrum of major discordant structural anomalies can be found in monochorionic pregnancies. The outcome for the anomalous twin is poor, while the survival rate for the normal co-twin was 71%, with a favorable overall prognosis.

Summary Objective To report a series of 5 patients with urothelial bladder cancer (UBC) three of them with a history of exposure to amines and only two with gross hematuria. Materials and methods After obtaining ethical and legal authorization, we performed a restrospective monocentric study. We collected information of patients with UBC over a period of 10 years. We recorded: age, sex, reason for presentation, familial history and risk factors, preoperative assessment, surgical details, histological type and grade, follow-up. Results 2 children came to our attention for hematuria and 3 for incidental bladder mass finding, at a median age of 11.8 years. We performed microscopically complete transurethral resection of the tumor (TURB). Median tumor size was 1.8 cm. No further therapy was required. All cancers belonged to NMIBC (Non-muscle-invasive Bladder Cancer) considering the 2004 WHO classification: 2 urothelial papillomas, 2 papillary tumors with low grade malignancy (PUN-LPM) and 1 papillary urothelial carcinoma of low histological grade (LG-PUC Ta, N0, M0). There was not any complications and no relapse occurred during follow-up (median 30 months). Conclusions In this study, UBCs presenting at a young age were low-grade and have not recurred in follow-up. This confirms the results of other series reported in Literature. Therefore there might be the space to perform a follow-up dedicated to children.

Introduction: Gastrointestinal infantile hemangiomas (IHs) are extremely rare and represent a diagnostic challenge, especially in newborns for the limited applicability of diagnostic approaches.We report two cases of neonates with gastrointestinal bleeding from intestinal hemangioma and a literature review of gastrointestinal IHs. Case 1: Full-term baby, asymptomatic at birth. On the seventh day of life she experienced failure to thrive, weight loss and hypotonus followed by melena and vomit. The imaging showed an intestinal vascular anomaly. We performed exploratory laparotomy and intestinal resection to remove the lesion. No complication occurred. Case 2: A 20-day old girl had melena and severe anaemia. The scintigraphic evaluation excluded gastric heterotopia. We opt for explorative surgery and we performed a laparoscopy that showed a congested and oedematous intestinal segment that was resected. Post-operative course was uneventful. Discussion: Gastrointestinal IHs may cause intractable bleeding, intussusception and intestinal perforations with bad prognosis. A prompt and accurate diagnosis is vital but not always easy. Colour-coded Duplex Scan are a good first-line imaging, MRI and CT give a better definition but the latter exposes to radiation. In the “era” of minimally invasive surgery, laparoscopy can have a role in the management of patients with gastrointestinal IHs. Conclusions: Gastrointestinal IHs should be considered in the differential diagnosis of neonates with anemia and gastro-intestinal bleeding. In selected cases, the minimally invasive approach permits diagnosis and treatment. Keywords: Gastrointestinal hemangioma, Neonates, Laparoscopy, Vascular anomalies, Gastrointestinal bleeding

Background/purpose Currarino syndrome (CS) phenotype, initially described as the triad of hemisacrum, anorectal malformation (ARM) and presacral mass, can be extremely variable. The triad is often incomplete and 3 main CS phenotypical subtypes have been described: Complete, Mild and Minimal. Various associated malformations are often present. Mutations in the MNX1 gene are the main genetic background of CS, although they are not present in almost half of the cases. Aim of our study is to analyze the distribution of the 3 CS subtypes and the incidence of associated malformations in a large sample of patients and to add information about the role of the genetic testing in guiding the diagnostic and prognostic evaluation of CS patients. Methods A multicentre retrospective data collection was performed. CS patients' phenotype was accurately analyzed according to a diagnostic-therapeutic standardized data collection sheet. The distribution of the three CS types and the frequency of each associated malformation were calculated. The phenotype of the patients with a known genetic anomaly was compared to the phenotype of the population with no genetic diagnosis, in order to determine whether the presence of a known genetic defect could correlate with a more severe CS phenotype. Results Data from 45 patients were analyzed. Twenty patients (44.5%) presented a Complete CS type, 19 (42.2%) a Mild CS and 6 (13.3%) a Minimal CS. In addition to the classical triad elements, 38 (84.5%) patients showed associated anomalies. The group of patients who resulted positive for a MNX1 mutation comprised a higher number (56.5%) of Complete CS cases than the group of patients that did not carry any MNX1 mutation (13%) ( p = 0.0085). We could not find any relationship between CS subtype and the number of associated anomalies ( p = 0.5102). Conclusions The presence of a MNX1 mutation seems to correlate with a more severe CS phenotype. MNX1 seems the main responsible for the expression and the severity of the CS triad, while the associated anomalies appear to be prevalently determined by genes sited on different loci. A thorough multidisciplinary diagnostic overview of CS patients should always include genetic counseling and analysis, both in postnatal and prenatal settings. Type of study Retrospective Study. Level of evidence II.

Introduction The clinical manifestation of a stretched low-lying cone (LLC) is represented by the tethered cord syndrome (TCS) with cutaneous, urologic, neurologic, and orthopaedic dysfunctions. TC is frequently found in patients with anorectal malformations (ARMs). The aim of our article is to report a series of patients affected by LLC and ARMs and evaluate their management and long-term follow-up results. Materials and Methods We performed a retrospective analysis over a period of 15 years including patients with ARM and TC and excluding those with severe polymalformations. We collected information related to the types of malformations and demographic data. We analyzed their management (perinatal protocol, radiological investigations, surgery, and multidisciplinary follow-up). QOL was assessed through the International Classification of Functioning, Disability, and Health for Children and Youth (ICF-CY). Results Thirty-three patients among 210 ARM cases had TC (16%). Eleven of them underwent neurosurgery. One patient had retethering; out of 11 patients, 4 remained stable and 6 improved after surgery (UDS normalization and resolution of symptoms). At a mean follow-up of 10 years, four patients were on clean intermittent catheterization and five on the Peristeen transanal irrigation. The majority of patients were defined as 3 (from 1-bad to 5-excellent) for their physical and mental state. Conclusion The use of MRI is considered to complete the ARM screening in detecting TC. The multidisciplinary approach is crucial and helps in defining the management of patients. In fact, it is not clear how the features of ARM and TC affect each other. The selection of cases for surgery should take into account the critical elements.

Aim of the study: We would like to report an unusual case of mature cystic teratoma (MCT) of the left colon presenting with intestinal obstruction in a syndromic patient with low-anorectal malformation (ARM). Case report: The boy had multiple malformations: low ARM with perineal fistula, situs ambiguous, dextrocardia, double outlet right ventricle with pulmonary stenosis and anterior aorta.At two years he required cardiac surgery but he developed intestinal obstruction. The intestinal condition put us in a diagnostic challenge: we thought about intestinal stenosis with fecal impaction but radiological investigations were inconclusive. During surgery we identified an abdominal mass that was resected together with the adjacent descending colon. Histology showed MCT. Follow-up was uneventful. Conclusions: MCT rarely occurs outside the sacrococcygeal–gonadal location. They are frequently associated with ARM in Currarino Syndrome: the mass is located in front of the sacrum and causes anal stenosis. Nevertheless, in the reported patient, MCT did not arise from the spine but from the left colon.Paediatric cases of colonic MCT have never been reported. Affected adults can develop constipation and/or intestinal obstruction. Surgery permits to remove the mass in both symptomatic and asymptomatic patients. Keywords: Mature cystic teratoma, Dermoid cyst, Anorectal malformation, Intestinal obstruction, Paediatric surgery

Spinal muscular atrophy (SMA) includes genetic heterogeneous diseases characterized by muscle weakness and atrophy. There are at least two risk factors for SMA patients to develop urinary dysfunctions: 1) the neural degeneration, that influences the pelvic floor and sphincters; 2) the disabilities that predispose to constipation and urinary incontinence and symptoms. Nevertheless, the true incidence of urological disorders remains unknown. The evaluation of urinary symptoms in SMA patients remains scarcely investigated. The aim of our paper is to assess the association between urological disorders and SMA. We worked out a questionnaire to assess the voiding habits of patients with SMA followed at a single Italian Centre. We collected demographic data and information regarding respiratory, orthopedic and gastrointestinal involvement. We excluded patients

Background The aim of the study was to assess current international practice in the long term follow-up, in managing active problems and transition of care for teenagers born with anorectal malformations (ARM). Methods An original survey was administered to delegates attending two large colorectal surgical meetings in 2015. The 21 questions covered long term follow-up, specific issues for teenagers and transition of care. Results 96/236 delegates completed the survey. Follow-up was routinely suspended before 10 year of age by 33% of respondents. 90% of them did not use a scoring system to assess or risks stratify patients, despite 81% stating that an objective score would be beneficial. 40% of respondents felt that >30% of their teenagers had ongoing active medical or psychosocial issues. 42% thought their patients were not ready to be transitioned. The process of transition should start around 13–16 years according to 54% of respondents. 72% had no protocol for transition and 82% did not hold multidisciplinary meetings with adult practitioners before transition. Conclusions International consensus on the following aspects of the care in ARM is needed: structured long term follow-up, objective assessment and risk stratification scores, pathways of transition and methods to prepare patients, parents and adult practitioners.

Introduction The use of prosthetic patches of non-absorbable materials represents a valid tool in the treatment of abdominal wall and diaphragmatic defects in pediatric age. In recent years research has developed biological dermal scaffolds made from a sheet of acellular matrix that can provide the desired support and reduce the occurrence of complications from non-absorbable implant. We present our experience and a systematic review to evaluate the use of biologic prosthesis for abdominal wall closure in pediatric patients. Methods The study from January 2009 to January 2015 involved 20 patients treated with Permacol™ implant. We observed postoperative complications only in patients treated for abdominal wall closure, which is the major indication for the use of Permacol™. We conducted a systematic review and meta-analysis (according to PRISMA) on PubMed/Medline, Scopus and EMBASE regarding the use of biological prosthesis in pediatric population considering the incidence of complications as the primary outcome. Results 3/20 patients experienced complications: 2 patients with skin necrosis healed conservatively and 1 of them developed laparocele. Thus only 1 patient with incisional hernia had significant surgery complication. In patients who were permanently implanted with Permacol™ it has not determined adverse reactions with optimal functional outcome. Conclusions In accordance with the few data (case reports and case series) reported in literature about pediatric patients, our experience in different pathologies and applications has shown the effectiveness of Permacol™, in particular for the non-occurrence of infections, that often affect the use of prosthesis., Highlights • Use of biological prosthesis is well known for the treatment of complicated abdominal defects in adults surgery but not in pediatric surgery. • We analyzed the largest case series present in the literature in pediatric surgery. • Looking at our results the use of Permacol™ seems to be safe and feasible in pediatric complicated abdominal wall closure.

One-trocar laparoscopic appendectomy (OTA) is routinely adopted in children with acute appendicitis. In case of a difficult appendectomy, it is necessary to add additional trocar/s to safely complete the procedure. This technique is called multiport hybrid laparoscopic appendectomy (HLA). We aimed to compare the outcome of multiport HLA versus OTA. METHODS: We retrospectively reviewed the data of 1,092 patients underwent LA in 5 European centers of pediatric surgery in the last 5 years. We compared 2 groups: G1 of 575 patients (52.6 %) (average age 10 years) underwent OTA and G2 of 517 patients (47.4 %) (average age 8.2 years) underwent multiport HLA. RESULTS: No intra-operative complications occurred in both groups. An additional pathology was treated in 12 cases (8 Meckel's diverticulum, 2 carcinoids, 2 ovarian cysts) in G2. Operative time was significantly shorter in G2 compared to G1 (47.8 vs 58.6 min; p < .001). The average analgesic requirement was significantly shorter in G2 compared to G1 (44 vs 56 h; p < .001). As for postoperative complications, the incidence of port-site infections was similar between the two groups, while the incidence of postoperative abdominal abscesses (PAA) was significantly higher in G1 compared to G2 (4.7 vs 0.2 %; p < .001). The cosmetic outcome was excellent in all patients of both groups. A subgroup analysis between complicated and uncomplicated appendicitis showed that only in complicated cases, the average operative time, the average VAS pain score, the average analgesic requirements and the incidence of PAA were significantly higher in OTA group compared to multiport HLA group (p < .001). CONCLUSIONS: Our results suggest that OTA is a valid and safe procedure for the uncomplicated cases, while additional trocars are required in case of complicated appendicitis. Multiport HLA significantly reduces the operative time, the incidence of abdominal abscesses and the analgesic requirements compared to OTA.

Congenital deformities of the chest wall or chest wall malformations (CWMs) comprise a complex spectrum of anomalies which range from those that do not impact on the health and quality of life of the patient to those which are life-threatening.

Esophageal achalasia is a primary motility disorder that is thought to be due to a dysfunction of the enteric nervous system [1]. It is characterized by loss of ganglion cells with degeneration of inhibitory myenteric plexus that innervates the esophageal body and the region of the lower esophageal sphincter (LOS) of unknown origin. It is hypothesized that decreased nitric-oxide synthase leads to a neuronal excitatory/inhibitory imbalance with esophageal aperistalsis, incomplete LOS relaxation in response to swallowing, and increased LOS resting pressures.