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Epidermolysis bullosa (EB) comprises a group of genetic disorders with the hallmark of fragility of the skin and mucosal surfaces. The severity of different types of EB varies markedly as does the occurrence of extra-cutaneous involvement and complications. A number of emergency situations may occur in the context of EB including obstruction to oral intake from oral or esophageal blisters or scarring, acute airway obstruction, acute urinary retention, sepsis and corneal erosions. Whilst general management principles apply in each of these settings, specific considerations are essential in managing EB to avoid undue trauma or damage to delicate tissues. These recommendations have been developed from a literature review and consensus from experts of the European Network for Rare Skin Disorders (ERN-Skin) to aid decision-making and optimize clinical care by non-EB expert health professionals encountering emergency situations in babies, children and adults with EB.

Video Video 1 Direct cholangioscopy for pancreatobiliary maljunction.

Venous malformation (VM) is the most common type among vascular malformations classified by the International Society for the Study of Vascular Anomalies. Most VMs are sporadic (94%), caused in 40% of cases by somatic mutation of TEK gene. VMs can be cutaneous, visceral, or combined. Visceral involvement is rare, and gastrointestinal (GI) tract is the most common localization. Visceral VMs, usually asymptomatic, may manifest with bleeding, anemia, and consumptive coagulopathy, which sometimes require an emergency treatment. Our aim is to study the possible GI involvement in patients with only one cutaneous VM. We analyzed a series of six patients who presented with a single cutaneous VM and have subsequently manifested intestinal involvement at our reference center for vascular anomalies since 2010. In our patients, cutaneous VMs were located on lower or upper limbs, and GI involvement manifested from 3 to 10 years after skin diagnosis. Our experience urges to early diagnose a GI involvement also in patients with only one skin VM and to prevent severe complications. A multidisciplinary approach is mandatory for the diagnosis and treatment of these patients.

Objective To analyze the findings of both multichannel intraluminal impedance with pH (MII-pH) and endoscopy/histopathology in children with esophageal atresia at age 1 year, according to current recommendations for the evaluation of gastroesophageal reflux disease (GERD) in esophageal atresia. Study design We retrospectively reviewed both MII-pH and endoscopy/histopathology performed in 1-year-old children with esophageal atresia who were followed up in accordance with international recommendations. Demographic data and clinical characteristics were also reviewed to investigate factors associated with abnormal GERD investigations. Results In our study cohort of 48 children with esophageal atresia, microscopic esophagitis was found in 33 (69%) and pathological esophageal acid exposure on MII-pH was detected in 12 (25%). Among baseline variables, only the presence of long-gap esophageal atresia was associated with abnormal MII-pH. Distal baseline impedance was significantly lower in patients with microscopic esophagitis, and it showed a very good diagnostic performance in predicting histological changes. Conclusions Histological esophagitis is highly prevalent at 1 year after esophageal atresia repair, but our results do not support a definitive causative role of acid-induced GERD. Instead, they support the hypothesis that chronic stasis in the dysmotile esophagus might lead to histological changes. MII-pH may be a helpful tool in selecting patients who need closer endoscopic surveillance and/or benefit from acid suppression.

Background:Since the esophagus has no redundancy, congenital and acquired esophageal diseases often require esophageal substitution, with complicated surgery and intestinal or gastric transposition. Peri-and-post-operative complications are frequent, with major problems related to the food transit and reflux. During the last years tissue engineering products became an interesting therapeutic alternative for esophageal replacement, since they could mimic the organ structure and potentially help to restore the native functions and physiology. The use of acellular matrices pre-seeded with cells showed promising results for esophageal replacement approaches, but cell homing and adhesion to the scaffold remain an important issue and were investigated.Methods:A porcine esophageal substitute constituted of a decellularized scaffold seeded with autologous bone marrow-derived mesenchymal stromal cells (BM-MSCs) was developed. In order to improve cell seeding and distribution throughout the scaffolds, they were micro-perforated by Quantum Molecular Resonance (QMR) technology (Telea Electronic Engineering).Results:The treatment created a microporous network and cells were able to colonize both outer and inner layers of the scaffolds. Non seeded (NSS) and BM-MSCs seeded scaffolds (SS) were implanted on the thoracic esophagus of 4 and 8 pigs respectively, substituting only the muscle layer in a mucosal sparing technique. After 3 months from surgery, we observed an esophageal substenosis in 2/4 NSS pigs and in 6/8 SS pigs and a non-practicable stricture in 1/4 NSS pigs and 2/8 SS pigs. All the animals exhibited a normal weight increase, except one case in the SS group. Actin and desmin staining of the post-implant scaffolds evidenced the regeneration of a muscular layer from one anastomosis to another in the SS group but not in the NSS one.Conclusions:A muscle esophageal substitute starting from a porcine scaffold was developed and it was fully repopulated by BM-MSCs after seeding. The substitute was able to recapitulate in shape and function the original esophageal muscle layer.

Objectives The aim of this study was to ascertain predictors of survival, liver disease (LD), and enteral autonomy 48 months after resection in neonatal short bowel syndrome (SBS) patients with residual small bowel length (SBL) ≤40 cm. Patients and Methods Medical records of all SBS patients followed up between 1996 and 2016 were retrospectively reviewed. Survival rate, prevalence of LD, and of enteral autonomy were evaluated. Results Forty-seven patients were included, and 43 were still alive at the end of the study period, with cumulative 48-month survival of 91.5%. Twenty-one (45%) patients developed LD, all within the first 6 months. On the final follow-up visit, three (6%) patients were still jaundiced and progressed toward end-stage LD. LD prevalence was higher in patients with recurrent bloodstream infections (odds ratio [OR] 5.4, 95% confidence interval [CI] 1.5–19.3). Of the 43 surviving patients, 22 (51%) had enteral autonomy 48 months after resection. The probability of weaning off parenteral nutrition (PN) was strongly correlated with the remaining SBL. Conclusion Survival of patients who have undergone neonatal massive small bowel resection has improved in recent years. Multidisciplinary strategies can improve the course of LD, but not the probability of weaning off PN, which seems to be strongly dependent on the anatomical profile of residual bowel. Therefore, the primary surgical approach should be as conservative as possible to gain even small amounts of intestinal length, which may be crucial in promoting intestinal adaptation.

Background Esophageal atresia (EA) is the most common congenital anomaly of the esophagus. Anastomotic strictures (AS) frequently occur in patients surgically treated for esophageal atresia (EA). The primary aim of this study is to determine the role of esophageal dilations in the management of AS in childhood after reconstruction of EA. Methods A retrospective chart review of patients treated with esophageal dilation for EA was conducted at our tertiary referral center from 2013 to 2017. We included patients treated at our Institution since diagnosis and patients referred from other Institutions. All dilations were performed with Savary-Gilliard polyvinyl bougies. Dilation was performed on an ‘as needed’ basis. Results Eighty-nine patients (68.5% males, 31.5% female) underwent 433 dilations overall in the study period (median: 3, range: 1–36). Type I of EA was 26.1%, Type II was 9.1%, Type III was 64.8%. Associated malformations in 52.8% cases. Six patients received 33 local applications of mitomycin C (MMC) and two of triamcinolone acetate for recurrent stenosis. Four patients developed a preanastomotic diverticulum-treated endoscopically. Nine patients (10.1%) underwent dynamic esophageal stent placement after a median of six dilations. Antireflux surgery was performed in 28 patients (31.5%), Nissen fundoplication in 20 patients, Toupet in 6, and both in 2. Patients treated with antireflux surgery received a mean of 7.1 dilations before surgery, versus 3.9 in patients without antireflux surgery (P = 0.0285, unpaired t test). Seven patients (7.9%), 5 referral, needed major esophageal surgery (4 esophageal reanastomosis and 3 esophagocolonplasty). Patients underwent major surgery received a mean of 19.3 dilations versus 3.6 dilations in no-surgery patients (P = 0.0002, Mann-Whitney U test). Six of 9 stented patients did not require surgery. Perforation was present in 0.4% of 433 dilatations. Conclusions Esophageal dilatation remains the mainstay of treatment for AS after EA repair. Stricture resection with end-to-end anastomosis is the reconstructive option of choice; esophageal substitution is reserved only in cases of intractable stricture. The use of esophageal dynamic stent, MMC, or steroids could help in avoiding or delaying the need of operative stricture resection. Antireflux surgery is mandatory in case of severe pathological gastroesophageal reflux to prevent intractable strictures from developing.

Introduction The usefulness of positive expiratory pressure (PEP) through a PEP valve to enhance expiratory flow and improve cough efficiency is well known in children with tracheoesophageal fistula (TEF) and residual tracheomalacia. Gastroesophageal reflux (GER) is one of the most frequent complications encountered in patients with repaired esophageal atresia (EA) ± TEF. The impact of airway clearance techniques with a PEP valve on GER is not well defined in this group of patients. The aim of this prospective study was to determine the effects of PEP chest physiotherapy on GER burden measured by multichannel intraluminal impedance and pH monitoring (MII-pH) in EA/TEF children. Since the study is still ongoing, preliminary results are hereby presented. Methods EA/TEF patients with tracheomalacia received three 20-min sessions of PEP chest therapy during the 24-hour MII-pH monitoring performed as a routine care. All children were off acid suppression therapy. The PEP session, performed after a 3-hour fasting period, consisted of 10 cycles lasting 1 minute of breathing with a PEP valve, followed by the forced expiratory technique and coughing. Esophageal acid exposure time (AET) and number of reflux episodes (RE) during each PEP session were measured as primary outcomes. Baseline impedance (BI) was also evaluated. MII-pH was defined abnormal if AET was >7% and/or the total RE was >70. Results From January and December 2018, 5 consecutive male EA/TEF children (mean age 8.5 years; range 3–14 years) were enrolled. All of them showed low distal BI (1040 ± 143.2) and normal MII-pH findings (AET: 1.8 ± 2.9%; number of RE: 20.2 ± 9.0). Over the period of the PEP sessions, no significant changes in AET (0.0 ± 0.0), RE (0.6 ± 0.5), and BI were detected compared with the background monitoring. Conclusions Although the limited number of participants prevents any definitive conclusions, our preliminary results indicate that PEP chest physiotherapy does not exacerbate GER in EA/TEF children. Continuation of the study across a larger sample of EA/TEF patients is needed to better define the effects of this simple chest physiotherapy technique on GER burden.

Aim of the Study Barrett's esophagus (BE) could be a rare late complication in children with repaired esophageal atresia, partly due to a long-term history of gastro-esophageal reflux disease (GERD). Radiofrequency ablation (RFA) is the best endoscopic technique in adults with BE and dysplasia. Guidelines do not support this approach for non-dysplastic BE. Aim of this study is to present our experience as Tertiary Gastroenterology referral Centers in the treatment of children and young adults with BE using RFA. Methods A multicenter retrospective study conducted on children with BE, subjected to RFA at the Digestive Surgery and Endoscopy Unit, Bambino Gesù Children's Hospital and the Department of General Surgery ‘Paride Stefanini’, Sapienza University of Rome, between June 2012 and December 2017.Demographic and clinical data were collected. BE characteristics according to Prague classification, presence and grade of dysplasia, number of RFA treatments, complications, clinic and endoscopic outcomes were described. All patients were treated with HALO RF BARRXtm (HALO 360 Covidien, Sunnyvale, California, USA). Endoscopic evaluation and treatment were performed every 3 months until complete eradication. Endoscopic follow-up was: 6 months after eradication, and then annually. Results Five patients were evaluated (M:5). Mean age at diagnosis was 14.4 years (range: 9–17); mean age at first treatment was 23 years (range: 13–36). Two patients presented with repaired esophageal atresia (long gap, type 3 atresia), 3 with peptic strictures. All patients exhibited a long-term history of symptomatic GERD and PPI dependency. Four patients underwent Nissen fundoplication before BE diagnosis. All patients presented with long segment BE (mean baseline length was 8,8 cm, range 7–10 cm). According to the Prague classification, patients were classified as follows: C0M7, C0M17, C8M10, C0M9 and C4M8. One patient presented with LGD. Patients received a mean of 3 HALO treatments (range 1–4 sessions). Eradication was 100% during 2- to 6-year follow-up (mean 4.5 year). No complications occurred. Conclusions Pediatric patients with EA present an high risk to develop early BE, therefore endoscopic surveillance is mandatory. RFA represents a safe and effective treatment option in patients with early onset BE. Treatment of BE with this technique could be a useful and minimal invasive strategy for dysplasia and cancer prevention.

Introduction Since recently, after detection of eosinophilic predominant inflammation of esophagus a trial with proton-pump inhibitors (PPIs) was needed to individuate children with PPI-responsive esophageal eosinophilia (PPI-REE), only those non-responders received eosinophilic esophagitis (EoE) diagnosis. In 2018 updated international consensus suggested removing the PPI trial as a diagnostic criterion and consider PPIs as a treatment together with diets and topical steroids. The role of PPIs is evaluated in children with esophageal atresia (EA) and EoE versus EoE from general population. Method A retrospective chart review of both children with EA and EoE followed-up from at January 2005 has been performed. According to ESPGHAN guidelines published in 2014 patients showing eosinophilic inflammation received high-dose PPI trial to identified PPI-REE. Those non-responders were labeled as EoE and underwent to dietary and/or topical steroid treatment. Demographics and disease characteristics of EA patients with EoE were analyzed and compared with those with EoE from general population. Results Overall, 370 EA and 118 EoE patients were analyzed. Of them 15 EA-EoE patients were detected. Consequently, in our cohorts, 4.0% of EA patients developed EoE. Male-to-female prevalence ratio was of 2.55 with no difference in gender prevalence between groups. At diagnosis EoE-EA children were significantly younger compared to EoE group (mean: 5.1 vs 10.8 years; P Conclusion Similar gender distribution and high prevalence of allergy suggest that common genetic susceptibility factors for EoE exist. However, high prevalence of PPI-REE coupled early EoE onset might also suggest that other factors (e.g. esophageal motility disorders) might play a physiopathological role in EoE development in EA children. Our study suggests that a stepwise approach with PPIs as a first-line treatment for EoE management in EA children should still be considered.

OBJECTIVE The aim of the study was to evaluate long-term nutritional outcomes and clinical characteristics in a cohort of children with pediatric intestinal pseudo-obstruction (PIPO) at neonatal-onset (NO-PIPO) and at later-onset (LO-PIPO). METHODS All children fulfilling new PIPO criteria over a 30-year period were reviewed. Baseline demographic and clinical features as well as nutritional outcomes were collected. Nutritional outcomes included overall survival, prevalence of enteral autonomy and parenteral nutrition (PN) dependency, rate of major PN complications, and growth course. RESULTS Forty-four patients were still alive at the end of the follow-up. Twenty-five patients (57%) achieved enteral autonomy, whilst 18 remained on PN. Among the patients requiring PN at the beginning of the study period, we found that 55% (CI 34-70) has the probability of remaining on PN at the latest follow-up. Prevalence of gastrointestinal obstruction symptoms (P

Background: Colorectal carcinoma (CRC) is very rare in the pediatric and adolescent age range and clinical management is performed according to adult protocols. We report, for the first time in the literature, a case of a child with metastatic CRC successfully treated with panitumumab associated to chemotherapy. Methods: A twelve-year-old male was diagnosed with CRC with nodal metastasis and peritoneal neoplastic effusion. After performing a genetic evaluation, in light of the absence of mutations in RAS family genes, anti-Epidermal Growth Factor Receptor (EGFR) monoclonal antibody, panitumumab, was added to chemotherapy FOLFOXIRI. Results: The child successfully responded to therapy with normalization of the Carbohydrate Antigen (CA) 19.9 value after the third cycle of treatment. After the sixth cycle, he underwent surgery that consisted in sigmoid resection with complete D3 lymphadenectomy. At histological evaluation, no residual neoplastic cells were detectable in the surgical specimen. He completed 12 cycles of chemotherapy plus panitumomab and he is alive without disease 14 months from diagnosis. Conclusions: Our results suggest performing mutational screening for colorectal cancer also in the pediatric setting, in order to orient treatment that should include targeted therapies.

Improved surgical techniques, as well as preoperative and postoperative care have dramatically changed survival of children with esophageal atresia (EA) over the last decades. Nowadays, we are increasingly seeing EA patients experiencing significant short- and long-term gastrointestinal morbidities. Anastomotic stricture (AS) is the most common complication following operative repair. An esophageal stricture is defined as an intrinsic luminal narrowing in a clinically symptomatic patient, but no symptoms are sensitive or specific enough to diagnose an AS. This review aims to provide a comprehensive view of AS in EA children. Given the lack of evidence-based data, we critically analyzed significant studies on children as well as adults, including comments on benign strictures with other etiologies.Despite there is no consensus about the goal of the luminal diameter based on the patient’s age, esophageal contrast study and/or endoscopy are recommended to assess the degree of the narrowing. A high variability in incidence of ASs is reported in literature, depending on different definitions of AS and on a great number of pre-, intra- and postoperative risk factor influencing the anastomosis outcome. The presence of a long gap between the two esophageal ends, with consequent anastomotic tension, is determinant for stricture formation as well as its response to treatment. The cornerstone of treatment is endoscopic dilation, whose primary aims are to achieve symptom relief, allow age-appropriate capacity for oral feeding and reduce the risk of pulmonary aspiration.. No clear advantage of either balloon or bougie dilator has been demonstrated, therefore the choice is based on operator experience and comfort with the equipment. Retrospective evidences suggest that selective dilatations (performed only in symptomatic patients) results in significantly less number of dilatation sessions than routine dilations (performed to prevent symptoms) with equal long-term outcomes. The response to dilation treatment is variable, and some patients may experience recurrent and refractory ASs. Adjunctive treatments have been used, including local injection of steroids, topical application of Mitomycin-C and esophageal stenting, but long-term studies are needed to prove their efficacy and safety. Stricture resection or esophageal replacement with an interposition graft remain options for AS refractory to conservative treatments.

Background Gastroesophageal reflux disease (GERD) is very common in patients with chronic lung diseases. We evaluated the incidence of GERD in young patients with cystic fibrosis (CF) and defined the characteristics of gastroesophageal reflux episodes analyzed by pH-multichannel intraluminal impedance (pH-MII) and esophagogastric scintigraphy. Patients and methods Since 2010, 31 patients with CF underwent pH-MII. Scintigraphy and upper endoscopy were performed in positive GERD patients. Forced expiratory volume in 1second (FEV1%) predicted was detected. Results pH-MII was positive in 17/31 (54.8%) patients (mean age: 12.4years; range: 4–17years). pH monitoring detected an average of 64.6 acid reflux events 4.4 episodes >5minutes in duration. The DeMeester score was 38.5. Impedance identified a mean number of reflux episodes of 66 (65.2% acid; 32% weakly acidic; 2.8% nonacidic), 28% of which reached the proximal esophagus. Esophageal transit and gastric emptying were delayed in 6/13 (46.1%) and in 5/15 (33.3%) cases, respectively. No differences were found in lung function between positive and negative GERD patients ( P =0.88). Conclusions Pediatric patients with CF have a high incidence of GERD with acidic events. These patients should be investigated with pH-MII and scintigraphy in order to make an early diagnosis and determine the most appropriate follow-up.

Summary Esophageal stenting represents a new strategy in the treatment of resistant or recurrent stenosis that obviates the need for multiple dilations. Our custom dynamic stent (DS) improves esophageal motility unlike the widespread self-expandable plastic or metallic esophageal stents. The DS allows food and secretions to pass in the space between the esophageal wall and the stent wall. This contrasts with the other types of stent, in which food passes into the stent that presses into the esophageal wall. Until the stent patent is complete, we use slices of silicon drains overlapped with each other to fashion the stent to the desired length and diameter (7-, 9-, or 12.7-mm external diameter). It is built coaxially on a nasogastric tube that guarantees the correct position. The two ends are tailored to allow an easy introduction and food passage between stent and esophageal wall. The stent is inserted after stricture dilations (Savary-Gilliard dilators) under fluoroscopic guidance. All patients who underwent stenting were treated with dexamethasone (2 mg/kg/day) for 3 days and proton pump inhibitors (omeprazole or lansoprazole, 1–2 mg/kg/day). From 1992 to 2012, 387 patients (mean age 38.6 months; range 3–125 months) with post-surgical esophageal stricture because of esophageal atresia correction were enrolled in this study. Twenty-six of 387 patients (6.7%) underwent custom DS placement for recurrent stricture instead of a program of serial dilations. The stent was left in place for at least 40 days and was effective in 21 (80.7%) of 26 patients. There were two stent-related major complications (subclavian-esophageal fistula). Our custom stent represents an effective and safe option in the treatment of severe and recurrent post-surgical esophageal strictures. Surgery with stricture resection, and reanastomosis or jeunoplasty represents the rescue strategy.

Background Strictures of the extra-hepatic biliary tree are rare in children and have a benign non-traumatic inflammatory origin or are related to idiopathic fibrosing pancreatitis. Primary sclerosing cholangitis (PSC) can manifest as multiple biliary strictures or as a single dominant stricture. We describe the presentation, treatment, and outcome of six cases of isolated benign choledochal stricture (IBCS). Methods All patients underwent magnetic resonance cholangiography (MRC). Five patients underwent diagnostic and therapeutic ERCP, and 4 patients underwent intra-choledochal mini-probe EUS and biopsy. Colonoscopy was performed in suspected ulcerative colitis (UC). Results We report 6 patients (mean age at diagnosis: four males, 12.1 years; two females, 14.2 years) with IBCS. Clinical onset included 3 cases of acute biliary pancreatitis and obstructive jaundice, one obstructive jaundice, one cholestasis, and one pancreatitis. At diagnosis, MRC confirmed IBCS in all patients. Biliary sphincterotomy, stricture dilation, and stenting were performed in 4 patients. One child underwent hepaticojejunostomy for a type I choledocal cyst. During follow-up (mean: 21 months; range: 1–3 years), all patients were asymptomatic. Four patients developed UC (three pancolitis, one descending colitis). One child developed PSC. Conclusion IBCS can be successfully treated by therapeutic ERCP. The occurrence of UC could suggest that IBCS is a form of PSC.

Gastrointestinal (GI) bleeding in infants and children is a fairly common problem, and it could be related to several clinical pathology according to patient age; however, it is usually limited in volume allowing time for diagnosis and treatment. One of the most frequent causes of lower gastrointestinal bleeding in pediatrics is Meckel’s diverticulum.

Background/purpose Management of choledochal cysts consists of surgical excision and hepaticojejunal anastomosis. Endoscopic retrograde cholangiopancreatography (ERCP) can be used to resolve complications and to evaluate the biliary tract and pancreatobiliary duct junction. Our aim was to underline the importance of ERCP for optimal management. Methods From 2005 to 2011, 28 patients were reviewed (21 female, 7 male; mean age, 5.71 years; range, 2-16 years). After imaging, all patients underwent elective ERCP and were referred for surgery. Results Choledochal cyst was diagnosed at ultrasound and magnetic resonance cholangiopancreatography in all examined patients; common biliopancreatic duct was diagnosed in 3 (20%) of 15 patients at magnetic resonance cholangiopancreatography and in none at ultrasound. Endoscopic retrograde cholangiopancreatography showed choledochal cyst in all patients and common biliopancreatic duct in 19 (68%) of 28 patients. Twelve patients underwent sphincterotomy. All patients underwent surgical extrahepatic biliary tree resection and hepaticojejunal anastomosis. Mean period of hospitalization was 9.5 days (range, 6-13 days). No major complications related to ERCP were observed. Two patients needed postoperative ERCP for complications (pancreatitis during follow-up). Conclusions In our pediatric experience, ERCP is feasible and safe. It can rule out other possible biliary tract anomalies and help plan the timing and choice of the appropriate surgical procedure.

Background Esophageal stenting represents a new strategy to avoid multiple dilations owing to stenosis relapse. Our custom stent improves esophageal motility unlike the widespread self-expandable plastic esophageal stents. The aim of the study was to confirm the efficacy of treatment with silicone custom stents in esophageal stenosis (ES) in pediatric patients. Methods A silicone stent of 7-, 9-, or 12.7-mm external diameter is built coaxially on a nasogastric tube that guarantees the correct position. The 2 ends are tailored to allow food passage between stent and esophageal wall. All patients received dexamethasone (2 mg/kg per day) for 3 days and ranitidine/proton-pump inhibitors. Study approval was obtained from our ethical board. Results From 1988 to 2010, 79 patients with ES, mean age 35.4 months (3-125 months), underwent esophageal hydrostatic/Savary dilations and custom-stent placement, left in place for at least 40 days. Stenting was effective in 70 (88.6%) of 79 patients. Fifty percent of the patients with effective treatment received only one dilation for stent placement. Fourteen patients received more stents successfully. There was one stent-related major complication. Conclusion Our custom stent improves treatment in ES. In caustic injuries, ES stenting represents the first option. In postsurgical ES, we stent after at least 5 dilations.

Background/Purpose Esophageal stenosis is a severe complication in dystrophic epidermolysis bullosa (EB). Endoscopic dilations may cause mucosal injury with stricture recurrence. Our aim was to describe our referral EB-center experience on safety and long-term efficacy of fluoroscopically guided balloon dilation without endoscopy. Methods Over 14 years, 34 patients with EB, previously evaluated with barium esophagogram for dysphagia, underwent balloon esophageal dilation. Under fluoroscopy, a guide wire was introduced via a nostril into the stomach. A 12-mm pneumatic balloon, which passed over the wire, was filled using radio-opaque contrast, dilating the stricture. Orotracheal intubation was avoided. Antibiotics, dexamethasone, and proton-pump inhibitors were administered. Study approval was obtained from our ethical board. Results Ninety-three dilations were performed. Seventeen patients had a single stenosis. The mean age of onset was 18 years (range, 3-47 years). Thirteen patients underwent one dilation. In 6 cases, endoscopy was necessary to visualize the esophageal lumen. Complications included cervical esophageal perforation (2) and transitory dysphagia (10). Thirty patients were feeding within 24 hours. During the follow-up, 2 patients required a gastrostomy, and 2 patients underwent fundoplication for gastroesophageal reflux disease. Conclusions Fluoroscopically guided balloon dilation in EB is a safe and well-tolerated procedure. An experienced endoscopy team is necessary in certain cases.

Background/Purpose Congenital esophageal stenosis (CES) is a rare malformation. Endoscopic dilations represent a therapeutic option. This study retrospectively evaluated the efficacy and safety of a conservative treatment of CES. Patients and Methods Patients diagnosed with CES since 1980 by a barium study or endoscopy were reviewed. Endoscopic ultrasonography (Olympus UM-3R-20-MHz radial miniprobe, Olympus Corporation, Tokyo, Japan), available from 2001, allowed for the differential diagnosis of tracheobronchial remnants (TBR) and fibromuscular hypertrophy (FMH) CES. All children underwent conservative treatment by endoscopic dilations (hydrostatic and Savary). Results Forty-seven patients (20 men) had CES. Fifteen were associated with esophageal atresia; and 8, with Down syndrome. Mean age at the diagnosis was 28.3 months (range, 1 day to 146 months). Symptoms were solid food refusal, regurgitation, vomiting, and dysphagia. Congenital esophageal stenosis was located in the distal esophagus. Endoscopic ultrasonography demonstrated TBR and FMH in 6 patients. One hundred forty-eight dilations in 47 patients were performed. The stenosis healed in 45 (95.7%). Complications were 5 (10.6%) esophageal perforations, hydrostatic (3/32, or 9.3%), and Savary (2/116, or 1.7%). At follow-up, 1 patient with FMH CES and 1 patient with TBR CES required operation for persistent dysphagia. Conclusions The conservative treatment yielded positive outcomes in CES. Endoscopic ultrasonography allows for a correct diagnosis of TBR/FMH CES. A surgical approach should be reserved for CES not responsive to dilations.

Background/Purposes Delayed gastric emptying (DGE) is a cofactor in the etiopathogenesis of gastroesophageal reflux disease (GERD). Scintigraphy is the criterion standard to evaluate gastric emptying (GE). This study aims to define typical scintigraphic activity-time curves (ATCs) related to DGE and esophageal atresia (EA) and to demonstrate the effectiveness of pyloromyotomy (P) in improving GE. Methods Since 2002, 83 children underwent Nissen fundoplication. Patients were divided into 2 groups: group I, GORD-only patients; group II, patients with GORD owing to OA. Depending on preoperative scintigraphy, each group was subdivided into 2 subgroups. Before surgery and 1 year after, endoscopy and scintigraphy were performed. In the presence of DGE, P was associated with Nissen fundoplication. Gastric emptying differences at baseline and at follow-up were estimated by the Student t test. Pre- and post-ATCs were evaluated by the χ 2 test. Results During follow-up, GE completely normalized in subgroups with DGE. Scintigraphic ATC analysis documented an association between DGE and a typical rectilinear fitting, with a higher rate in OA patients. After P, the scintigraphic pattern changed in an exponential manner related to a faster GE. Conclusions Delayed gastric emptying is frequent in OA, and the scintigraphic ATCs are typical. Pyloromyotomy is a safe and effective technique to fully normalize GE.

Post-esophageal atresia anastomotic strictures and post-corrosive esophagitis are the most frequent types of cicatricial esophageal stricture. Congenital esophageal stenosis has been reported to be a rare but typical disease in children; other pediatric conditions are peptic, eosinophilic esophagitis and dystrophic recessive epidermolysis bullosa strictures. The conservative treatment of esophageal stenosis and strictures (ES) rather than surgery is a well-known strategy for children. Before planning esophageal dilation, the esophageal morphology should be assessed in detail for its length, aspect, number and level, and different conservative strategies should be chosen accordingly. Endoscopic dilators and techniques that involve different adjuvant treatment strategies have been reported and depend on the stricture's etiology, the availability of different tools and the operator's experience and preferences. Balloon and semirigid dilators are the most frequently used tools. No high-quality studies have reported on the differences in the efficacies and rates of complications associated with these two types of dilators. There is no consensus in the literature regarding the frequency of dilations or the diameter that should be achieved. The use of adjuvant treatments has been reported in cases of recalcitrant stenosis or strictures with evidence of dysphagic symptoms. Corticosteroids (either systemically or locally injected), the local application of mitomycin C, diathermy and laser ES sectioning have been reported. Some authors have suggested that stenting can reduce both the number of dilations and the treatment length. In many cases, this strategy is effective when either metallic or plastic stents are utilized. Treatment complications, such esophageal perforations, can be conservatively managed, considering surgery only in cases with severe pleural cavity involvement. In cases of stricture relapse, even if such relapses occur following the execution of well-conducted conservative strategies, surgical stricture resection and anastomosis or esophageal substitution are the only remaining options.

Background Esophageal achalasia (EA) is a rare esophageal motility disorder in children. Laparoscopic Heller myotomy (LHM) represents the treatment of choice in young patients. Peroral endoscopic myotomy (POEM) is becoming an alternative to LHM. The aim of this study is to evaluate the effectiveness, safety, and outcomes of POEM vs LHM in treatment of children with EA. Methods Data of pediatric patients with EA, who underwent LHM and POEM from February 2009 to December 2013 in two centers, were collected. Results Eighteen patients (9 male, mean age: 11.6 years; range: 2–17 years) were included. Nine patients (6 male, mean age: 10.7 years; range: 2–16 years) underwent LHM, and the other 9 (3 males, mean age: 12.2 years; range: 6–17 years) underwent POEM procedure. Mean operation time was shorter in POEM group compared with LHM group (62/149 minutes). Myotomy was longer in POEM group than in LHM group (11/7 cm). One major complication occurred after LHM (esophageal perforation). No clinical and manometric differences were observed between LHM and POEM in follow-up. The incidence of iatrogenic gastroesophageal reflux disease was low (1 patient in both groups). Conclusions Results of a midterm follow-up show that LHM and POEM are safe and effective treatments also in children. Besides, POEM is a mini-invasive technique with an inferior execution timing compared to LHM. A skilled endoscopic team is mandatory to perform this procedure.

Background and Aims: Recent epidemiological studies showed an increase in ulcerative colitis among children, especially in its aggressive form, requiring surgical treatment. Although medical therapeutic strategies are standardized, there is still no consensus regarding indications, timing and kind of surgery. This study aimed to define the surgical management of paediatric ulcerative colitis and describe attitudes to it among paediatric surgeons. Methods: This was a retrospective cohort study. All national gastroenterology units were invited to participate. From January 2009 to December 2013, data on paediatric patients diagnosed with ulcerative colitis that required surgery were collected. Results: Seven units participated in the study. Seventy-one colectomies were performed (77.3% laparoscopically). Main surgical indications were a severe ulcerative colitis attack (33.8%) and no response to medical therapies (56.3%). A three-stage strategy was chosen in 71% of cases. Straight anastomosis was performed in 14% and J-pouch anastomosis in 86% of cases. A reconstructive laparoscopic approach was used in 58% of patients. Ileo-anal anastomosis was performed by the Knight–Griffen technique in 85.4% and by the pull-through technique in 9.1% of patients. Complications after colectomy, after reconstruction and after stoma closure were reported in 12.7, 19.3 and 35% of cases, respectively. Conclusions: This study shows that there is general consensus regarding indications for surgery. The ideal surgical technique remains under debate. Laparoscopy is a procedure widely adopted for colectomy but its use in reconstructive surgery remains limited. Longer follow-up must be planned to define the quality of life of these patients.

Eosinophilic oesophagitis is an emerging disease, well known also in paediatric age, probably caused by both IgE and non-IgE mediated food allergies, diagnosed by upper endoscopy with biopsy. The most severe complication is oesophageal stenosis. The identification of the offending allergens is often difficult; therapy is focused to eliminate the supposed antigenic stimulus, to control the acute symptoms and to induce long-term remission. Aim We report the clinical outcome and the typical endoscopic findings of children and adolescents affected by eosinophilic oesophagitis, referring a proposal of diagnostic and treatment protocol. Patients and methods Twelve patients, affected by eosinophilic oesophagitis with a histological diagnosis, underwent radiographic upper gastro-intestinal series, 24 h pH-probe and standardised allergic testing; they were treated with steroids (oral prednisone and swallowed aerosolised fluticasone) and elimination diet. Dilations were performed when eosinophilic oesophagitis was not yet diagnosed, or in patients resistant to conventional treatment. Results Two patients were lost to follow up (mean follow up: 1 year 11 months); seven patients have no symptoms and normal histology, five of them on restricted diet (without cow's milk protein) and two patients on elemental diet (amino acid formula). In two patients (no allergens identified), mild dysphagia and eosinophilic infiltration persist; one patients underwent Nissen fundoplication for Barrett's oesophagus: he has no symptoms and normal oesophagus, on restricted diet (without cow's milk/eggs protein and wheat). Conclusion The recognition of typical endoscopic picture with careful biopsies extended to the whole oesophagus, even in emergency, could more quickly lead to the correct diagnosis and avoid severe complications of eosinophilic oesophagitis in children, as stricture and failure to growth. Elimination diet is the key of resolution when the allergens are identified. A great challenge remains the relation between gastro-oesophageal reflux disease and eosinophilic oesophagitis, which should however be explained.

Pancreatic pseudocysts (PP) arise from trauma and pancreatitis; endoscopic gastro-cyst drainage (EGCD) under endoscopic ultrasonography (EUS) in symptomatic PP is the treatment of choice. Miniprobe EUS (MEUS) allows EGCD in children. We report our experience on MEUS-EGCD in PP, reviewing 13 patients (12 children; male:female = 9:3; mean age: 10 years, 4 mo; one 27 years, malnourished male Belardinelli-syndrome; PP: 10 post-pancreatitis, 3 post-traumatic). All patients underwent ultrasonography, computed tomography and magnetic resonance imaging. Conservative treatment was the first option. MEUS EGCD was indicated for retrogastric cysts larger than 5 cm, diameter increase, symptoms or infection. EGCD (stent and/or nasogastrocystic tube) was performed after MEUS (20-MHz-miniprobe) identification of place for diathermy puncture and wire insertion. In 8 cases (61.5%), there was PP disappearance; one, surgical duodenotomy and marsupialization of retro-duodenal PP. In 4 cases (31%), there was successful MEUS-EGCD; stent removal after 3 mo. No complications and no PP relapse in 4 years of mean follow-up. MEUS EGCD represents an option for PP, allowing a safe and effective procedure.

Small bowel tumors (SBT) are rare. Among primary small bowel malignancies, adenocarcinoma is the most common histological subtype. Patients at risk for SBT include those with Crohn’s disease, familial adenomatous polyposis (FAP), celiac sprue, and peptic ulcer disease [1, 2]. In the following we present an unusual case of jejunal adenocarcinoma in a 16-year-old boy.

Background Eosinophilic esophagitis (EoE) is a chronic immune/antigen-mediated disease with esophageal dysfunction and eosinophil-predominant inflammation. An association between EoE and gastro-esophageal reflux disease (GERD) has not been well established. Aims The aim was to evaluate patients with EoE who underwent pH-Multichannel Intraluminal Impedance (pH-MII), investigating proton-pump-inhibitors (PPI) therapy/anti-reflux surgery requirement. Methods Twenty-five patients [mean age 7.6 (range 1–17years)] with EoE underwent pH-MII. The children were then divided into Group 1 (pathological pH-MII) and Group 2 (normal pH-MII). PPI was administered for two months in Group 1 and in those children in Group 2 unresponsive to standard EoE therapy (diet and corticosteroids). All patients underwent endoscopy and clinical follow-up. Data are described as mean (range). Results Group 1 (n=16, M:F=14:2) had mean reflux index (RI) 13.9% (0.8%–53.4%) with a mean number of total reflux episodes (RE) of 65.8 (14–341). Group 2 (n=9, M:F=6:3) had a mean RI 1.2% (0.2%–2.7%) with a mean number of total RE of 27.4 (14–39). There was a histological response to repeated cycles of PPI in 11/16 (69%) children in Group 1 and 4/9 (44%) children in Group 2. Fundoplication, because of dependence on PPI, was required in 4/11 PPI-responders in Group 1, allowing discontinuation without relapse of EoE. Conclusions The use of PPI is suggested in EoE at time of diagnosis in addition to standard treatment and may even have benefit in children who do not appear to have significant GERD but are unresponsive to standard therapy.

Eosinophilic esophagitis represents the most debated disease of the last 10 years, too often speculated or overestimated and certainly well known and examined. The aim of this study was to summarize the recent therapeutic trends in order to show persistent doubts regarding several debated therapies. The study combined the most recent international literature and the authors' daily experience to define the scope of the review, with limits caused by a lack of available randomized studies between dietetic and pharmacological treatment. It was concluded that eosinophilic esophagitis is an immunoallergic disease that is generally caused by identifiable food and environmental allergens although, in a minority of cases, the etiological trigger remains undetermined. Therapy usually fights the responsible agents, but sometimes they are not resolved. A need for more pathogenetically driven treatments is invoked.

AIM: To assess the usefulness of the balloon assisted enteroscopy in preventing surgical intervention in patients with Peutz-Jeghers syndrome (PJS) having a small bowel large polyps. METHODS: Seven consecutive asymptomatic pts (age 15-38 years) with PJS have been collected; six underwent polypectomy using single balloon enteroscopy (Olympus SIF Q180) with antegrade approach using push and pull technique. SBE system consists of the SIF-Q180 enteroscope, an overtube balloon control unit (OBCU Olympus Balloon Control Unit) and a disposable silicone splinting tube with balloon (ST-SB1). All procedures were performed under general anesthesia. Previously all pts received wireless capsule endoscopy (WCE). Prophylactic polypectomy was reserved mainly in pts who had polyps > 15 mm in diameter. The balloon is inflated and deflated by a balloon control unit with a safety pressure setting range from -6.0 kPa to +5.4 kPa. Informed consent has been obtained from pts or parents for each procedure. RESULTS: Six pts underwent polypectomy of small bowel polyps; in 5 pts a large polyp > 15 mm (range 20-50 mm in diameter) was resected; in 1 patient with WCE negative, SBE was performed for previous surgical resection of gastrointestinal stromal tumors. In 2 pts endoscopic clips were placed due to a polypectomy. No surgical complication have been reported. SBE with resection of small bowel large polyps in PJS pts was useful to avoid gastrointestinal bleeding and emergency laparotomy due to intestinal intussusceptions. No gastrointestinal tumors were found in subsequent enteroscopic surveillance in all seven pts. In order surveillance, all pts received WCE, upper endoscopy, ileocolonoscopy every 2 years. No pts had extraintestinal malignant lesions. SBE was performed when WCE was positive for significant polyps (> 15 mm). CONCLUSION: The effective of prophylactic polypectomy of small bowel large polyps (> 15 mm) could be the first line treatment for conservative approach in management of PJS patients.

Objectives: The gastric emptying rate (GER) may be delayed in CF, but its assessment is problematic and previous CF studies have employed scintigraphic techniques which are expensive and unsuitable for routine use. We wished to assess the use of ultrasonography for this purpose, which has been validated in a non-CF population using a 3.5-MHz abdominal transducer probe measuring gastric antral size [1]. Methods: After an overnight fast, in the supine position we looked at 12 nondiabetic subjects (mean age 26 [SD 4] years, 9 male) comparing the GER in 8 pancreatic insufficient CF patients with 4 healthy controls. Subjects consumed 113mls (made up to 200mls with water) of Polycal®, a liquid energy supplement. Ultrasound measurements were made regularly over 2 hours and gastric emptying >63% at 90 minutes was considered normal. Results: There was a significant decrease in GER at 90 minutes (p = 0.04) and 120 minutes (p = 0.02) in the CF group (see table). Conclusions: Delayed gastric emptying occurs in pancreatic insufficient patients with CF and without known cystic-fibrosis related diabetes. The novel use of bedside ultrasound in this patient group will allow timely management of patients with gastro-paresis by dietary manipulation or prokinetic therapy.