A case of double cystic esophageal duplication in VACTERL syndrome: the first case report and a review of the literature.

Background: An esophageal duplication cyst (EDC) is a rare malformation resulting from the embryonic foregut. VACTERL syndrome is a genetic disorder affecting many systems of the human body. We report the first case of VACTERL syndrome associated to asymptomatic double EDC. Case report: A girl with anorectal malformation and rectovestibular fistula, kidney malformation, and various vertebral defects came to our attention at the time of birth. VACTERL disease was diagnosed. She underwent Peña anoplasty at 4 months of life without complications. MRI was conducted at the age of 2. It accidentally showed a double esophageal duplication (12 mm × 35 mm × 10 mm) at the D7-D9 level. We planned a thoracoscopy; previous intraoperative esophagogastroduodenoscopy showed an external compression of the native esophagus. Two duplicated esophageal lesions were removed. The patient made an uneventful recovery and was completely asymptomatic at long-term follow-up. Conclusions: VACTERL syndrome is still a not well-defined disease. Based on the current literature, this is the first case of a double esophageal duplication in a patient affected by VACTERL syndrome. According to us, the thoracoscopic approach of esophageal duplications can be followed by experts. Complete surgical excision is possible even if the cyst shares a common muscular wall with the esophagus. For this reason, we suggest to close the muscular wall by a simple interrupted suture.

Double isolated asynchronous duodenal perforation due to abdominal blunt trauma in a child: A case report.

BACKGROUND: Isolated duodenal perforation following blunt abdominal trauma is a rare injury in children. Bicycle accidents (falling on to the handlebar) are a frequent cause of blunt abdominal trauma in children and may occasionally be associated with isolated duodenal perforation (IDP). Prompt diagnosis and surgical treatment are vital to prevent increased morbidity and mortality. CASE PRESENTATION: We report the rare case of an 11-year-old boy admitted for blunt abdominal trauma and treated for an asynchronous double IDP. The first perforation, located on the 2nd/3rd portion of the duodenum, was promptly diagnosed by contrast-enhanced abdominal CT scan after a negative US scan, five hours after injury, and the lesion repaired with a single stitch suture. The second duodenal perforation appeared in the duodenal bulb as a worsening biliary leakage, 48 h after the primary suture of the initial lesion. The perforation was initially seen by digestive endoscopy and sutured in the same way as the first lesion. A third laparotomy was needed 4 days later due to an intestinal obstruction, after which the patient was recovered completely and was discharged home. DISCUSSION AND CONCLUSION: IDP is a rare consequence of blunt abdominal trauma, and is normally associated with a lesion of other organs, such as the pancreas or bile duct. A delayed diagnosis strongly increases the incidence of morbidity and mortality, and different kinds of surgical management have been proposed, depending on the type of lesion. To our knowledge, this is the first case described in literature of a double isolated asynchronous duodenal perforation following blunt abdominal trauma in children.

Androgen insensitivity syndrome.

OBJECTIVE: We provide a review of the literature about the Androgen Insensitivity Syndrome (AIS), its onset and associated developmental anomalies and the genetic alterations causing it. MATERIALS AND METHODS: We searched PubMed with a larger emphasis on the physiology, genetics and current management of AIS. RESULTS: AIS is an X-linked recessive Disorder of Sex Development (DSD). It is caused by mutations of the Androgen Receptor, and their large amount and heterogeneity (missense and nonsense mutations, splicing variants, deletions, and insertions) are responsible for the wide spectrum of possible phenotypes of patients, divided into Partial AIS (PAIS) and Complete AIS (CAIS). Once the clinical and laboratory investigations have laid the foundation for a diagnostic hypothesis, it is important to identify the actual karyotype of the individual and search for the mutation in the Androgen Receptor to diagnose with certainty the syndrome. Alternatively, in the absence of such evidence, the diagnosis should more properly be an AIS-like condition, which we describe as well in our report. CONCLUSIONS: The management of this DSD is based on pharmacotherapies, surgery and psychological support: all of them must be directed to facilitate the patient's life, considering his/her sexual identity.

Hepatoblastoma in a 14 month-old female.

Hepatoblastoma (HB) is the most common malignant liver tumor in children. Complete surgical resection is the best treatment choice with a good prognosis in most cases. We present the case of a 14 month-old female patient was admitted to the pediatric surgery unit due to an abdominal mass localized in the right upper quadrant. The diagnosis retained was hepatoblastoma, so the patient underwent preoperative chemotherapy. The final size of the tumor permitted a complete surgical resection through a right subcostal incision enlarged to the left. Hepatoblastoma is the most common malignant liver tumor in children, more frequent in male than in female and typically presenting before 3 years of age as an abdominal mass found accidentally. Recent treatment strategies, consisting of chemotherapy combined with extensive surgery and in extreme cases liver transplantation, have improved the prognosis during the last years although HB's etiology and management are still subjects of debate.

A cross-sectional nationwide survey on esophageal atresia and tracheoesophageal fistula.

BACKGROUND: Our study aims at disclosing epidemiology and most relevant clinical features of esophageal atresia (EA) pointing to a model of multicentre collaboration. METHODS: A detailed questionnaire was sent to all Italian Units of pediatric surgery in order to collect data of patients born with EA between January and December 2012. The results were crosschecked by matching date and place of birth of the patients with those of diagnosis-related group provided by the Italian Ministry of Health (MOH). RESULTS: A total of 146 questionnaires were returned plus a further 32 patients reported in the MOH database. Basing on a total of 178 patients with EA born in Italy in 2012, the incidence of EA was calculated in 3.33 per 10,000 live births. Antenatal diagnosis was suspected in 29.5% patients. 55.5% showed associated anomalies. The most common type of EA was Gross type C (89%). Postoperative complications occurred in 37% of type C EA and 100% of type A EA. A 9.5% mortality rate was reported. CONCLUSIONS: This is the first Italian cross-sectional nationwide survey on EA. We can now develop shared guidelines and provide more reliable prognostic expectations for our patients.

Resolution of opisthotonus in respiratory distress by aortopexy.

We report a case of worsening respiratory distress associated with opisthotonus secondary to tracheomalacia, a rather unique pathophysiological phenomenon. A 2-month-old male baby was referred to our hospital for respiratory distress syndrome with a noticeable opisthotonus. Examination and investigation confirmed the presence of an aberrant innominate artery compressing the trachea. The infant underwent aortopexy and made a dramatic post-operative recovery. Of special note, the opisthotonus vanished soon after the operation. Opisthotonus is not always related to neurological impairment and may be a warning sign of mediastinal overcrowding in patients with respiratory distress syndrome secondary to vascular compression.

Patients with a history of infection and voiding dysfunction are at risk for recurrence after successful endoscopic treatment of vesico ureteral reflux and deserve long-term follow up.

AIM OF THE STUDY: Subureteral endoscopic injection of a bulking agent is an attractive alternative to open surgery or antibiotic prophylaxis for vesico ureteral reflux (VUR). Little information is available about long-term risk of recurrence after an initially successful treatment. Aim of this paper was to review short- and long-term success rate of endoscopic treatment in a single Center series after risk stratification of individual patients. MATERIALS AND METHODS: The records of 126 patients who underwent Deflux injection for primary VUR were examined. Indications to treatment were an unvaried high grade VUR (IV-V) at 1 year from diagnosis and/or and recurrent urinary tract infection (UTI) on antibiotic prophylaxis even in the presence of mild grade VUR (III grade). Gender, age and mode of diagnosis, infections (UTI), voiding dysfunctions, VUR grade and side, renal function, number of treatments were correlated to outcome. Long-term evaluation was planned at a minimum of 1 year from the last negative post-injection cystogram (MCUG). A new MCUG and DMSA scan were also offered to those complaining new UTI episodes. Late recurrences were correlated to history and grade of reflux. Data were analyzed with Graph Pad Instat software; the Chi-square test was used for univariate comparisons, the Fisher's exact test for categorical variables.and multiple regression tests for factors influencing outcome. RESULTS: M/F ratio was 62 to 64; median age at diagnosis was 28 months. VUR affected 198 renal units. Preinjection VUR grade was I in 1, II in 27, III in 107, IV in 59, and V in 4 units. Reduced DMSA uptake was evidenced in 51 units and scarring in 24. Median age at treatment was 34.5 months, for persistent high grade VUR (IV-V) in 55 patients and recurrent IVU in 92. Two hundred sixty seven injections were performed on 198 ureters. Complete resolution was documented by MCUG at 3-5 months in 68%, low grading < II in 20%, persistence or unsignificant reduction in 11%. Preoperative recurrent UTI, higher grade VUR, and bilaterality were correlated to a poorer surgical outcome. Among 80 successfully treated cases, 12 complained of persistent UTI. Recurrence of VUR was demonstrated in 31% of them. Deteriorated uptake or additional scarring in 25% was independent from VUR recurrence. Preoperative recurrent UTI and voiding dysfunction correlated significantly to late outcome. CONCLUSIONS: Preoperative recurrent IVU, together with high-grade reflux, seem to correlate to lower success rate of Deflux injection for primary VUR. Even after successful endoscopic treatment, long-term surveillance may be needed among these cases, mainly if voiding dysfunction is also recorded. Late recurring VUR must be actively excluded in case of new IVU episodes.

An all-endo Approach to Complete Ureteral Duplications Complicated by Ureterocele and/or Vesicoureteral Reflux: Feasibility, Limitations, and Results.

Purpose. Totally endoscopic management (all-endo) of patients with a duplicated renal system (DS) associated with severe vesicoureteral reflux (VUR) or obstructive ureterocele (UC) is an attractive alternative to traditional open procedures. The authors discuss feasibility and results of an all-endo approach on a consecutive series of patients. Methods. From 1999 to 2009, all patients with a complete DS associated with UC and/or VUR were proposed for primary all-endo approach. UC puncture was performed using a 3 Fr Bugbee electrode. Deflux (dextranomer/hyaluronic acid copolymer) injection was administered for VUR. The need for secondary surgery was evaluated on followup. Results. Of the 62 patients recruited, 46 were treated using a primary all-endo approach and 16 patients received no treatment. Of the 46 treated patients with 56 affected renal units, 32 (97%) UCs collapsed following puncture and 29 (63%) VURs were resolved or downgraded. Secondary VUR occurred in 13 (39%) renal units. Secondary surgery was performed on 23 (41%) renal units. Conclusion. The all-endo approach for VUR in DS is an effective therapeutic option. UC collapse was achieved by puncture in most of the patients; secondary VUR was the main complication in a small group of extravesical UC.

The present and future role of (111)In pentetreotide in the PET era.

Today, positron emission tomography (PET) using F-18 Fluoro-deoxyglucose (FDG) is, when available, the most important nuclear medicine procedure applied to oncology. Nevertheless, 2 main reasons for the clinical use of somatostatin analogues labeled with single photon emitting radionuclides are: a) the low accuracy of PET-FDG in neuroendocrine tumors (NET); b) the expression of somatostatin receptors (sstr) in most cells deriving from so-called neuroendocrine dispersed cells. The latter forms the premise for the use of radiolabeled somatostatin analogues, and (111)In pentetreotide (Octreo-scan) in particular, in the diagnosis of NET and other pathological conditions, including some benign diseases. Alongside diagnosis, staging and follow-up of NET, somatostatin analogues, whether radiolabeled or not, can have a role in evaluating prognosis and predicting therapeutic efficacy in cancer patients. Interesting indications have emerged with radioguided surgery and in diagnosing the activity of disease in patients with Graves' disease (exophthalmos), sarcoidosis, and rheumatoid arthritis. The pathophysiological premises to imaging, starting from an analysis of cells expressing sstr, binding affinity of octreotide for sstr, in vivo uptake of Octreoscan in lesions expressing or not sstr are discussed, as is the possible role of quantitative receptor scintigraphy in improving diagnostic accuracy based on tumor expression of sstr.

Surgical approach to neonatal intestinal perforation. An analysis on 85 cases (1991-2001).

AIM: Primary gastrointestinal perforations have an incidence of between 1% and 3% in NICU patients. The 3 Centers participating in this study cover nearly 40% of the NICU population of the Lazio Region--Italy. The aim of this study is to discuss factors affecting survival in patients affected by a primary intestinal perforation. METHODS: From 1991 to 2001, 67 cases of 85 with a neonatal gastrointestinal perforation, were related to primary bowel lesions. Necrotizing enterocolitis (NEC) was not always the cause of perforation and in many patients an isolated bowel lesion without signs of NEC was found. The aim of this study was to examine clinical and intraoperative findings of NEC and non NEC perforations and their impact on survival. A relevant number of these patients were extremely low-birth weight (ELBW). Controversies about treatment of this category of neonates are discussed. RESULTS: Patients were 37 males and 30 females (mean birth weight 1 274.8 g, mean gestational age 28.9 weeks, mean age at perforation 10 days). Overall survival was 56.8%. Patients were divided by intraoperative findings in 2 groups: NEC (n=48), or isolated intestinal perforation (IIP) without signs of NEC (n=19). Differences between these 2 groups with regard to birth weight, maturity, associated cardiac anomalies (patent ductus arteriosus, PDA) were significant. NEC and IIP behaved as 2 distinct entities, each with peculiar clinical (age at perforation, oral feeding, need of ventilatory support) and radiological aspects. At surgery, multiple lesion on necrotic bowel were typical of NEC versus single, isolated perforations on healthy bowel typical of IIP. Overall survival was almost identical in the 2 groups (59% vs 58%). ELBW patients (55% of the total neonatal intestinal perforations) were also studied. There were 21 patients with NEC and 16 with IIP. The 2 groups were different in age at perforation, previous oral feeding and associated cardiac anomalies (PDA). Overall survival was 62% for NEC and 50% for IIP. A laparotomy was always performed. Temporary peritoneal drainage was done in 4 cases only. Results were better when intestinal diversion was performed rather than resection and primary anastomosis. Almost all NEC patients had multiple perforations and extended bowel necrosis. CONCLUSION: NEC is the most frequent cause of neonatal intestinal perforation. This is a quite distinct entity from IIP, which must always be differentiated preoperatively and which is most frequently found among low birth weight newborns. As far as surgical treatment of perforation among ELBW neonates is concerned, peritoneal drainage might be reasonably performed when a single lesion on healthy bowel as in IIP is clearly diagnosed but it could be inadequate for NEC patients.

[Intramural esophageal bronchogenic cyst: an unusual cause of dysphagia in pediatric patients. Report of a case]. / Quiste broncogénico de la pared esofágica: un caso inusual de disfagia en un paciente pediátrico.

Bronchogenic cyst a bronchopulmonary foregut malformation. An intramural esophageal localization has rarely been reported in respect to more common esophageal duplications or leiomyoma. The authors describe a case of bronchogenic cyst of the esophageal wall in a 3 years old girl. It was an misdiagnosed cause of dysphagia and was revealed by endoscopy and CT scan after two uneffective antireflux procedures performed in different institutions, which caused a worsening of symptoms. Complete excision of the lesion through a thoractomic approach and a redo of the antireflux procedure were followed by complete recovery.

Somatostatin receptor type 2 gene expression in neuroblastoma, measured by competitive RT-PCR, is related to patient survival and to somatostatin receptor imaging by indium -111-pentetreotide.

BACKGROUND: We previously reported that human neuroblastoma cell lines and primary neuroblastoma tumors expressed a variable amount of mRNA for type 2 somatostatin (sst2) receptor gene. We also found that high level of sst2 expression were positively related to patient survival. PROCEDURE: We studied retrospectively 49 primary neuroblastomas. To detect and measure sst2 mRNA expression we developed a quantitative RT-PCR based on competitive PCR. When possible the number of MYCN copies was also measured with competitive PCR. RESULTS;. We found that the lowest level of sst2 mRNA was detected in advanced stages of neuroblastomas (stage IV) when compared with the other stages (P< 0.005). Patients with high levels of sst2 expression (>7 x 10(7) molecules/microg RNA) had a cumulative survival better than those with low sst2 expression (P < 0.0005). This predictive independent value of sst2 (P= 0.005) is retained after stratification for N-myc amplification. Finally we verified that the ex vivo sst2 gene expression in tumor samples was positively related (P < 0.01) to the in vivo semiquantitative determination of sst2 protein, assessed by 111In-pentetreotide imaging. CONCLUSIONS: Our data indicate that the measurement of sst2 mRNA measurement could represent a relevant tool in the prediction of neuroblastoma outcome, independently from MYCN amplification.

Octreoscan SPET evaluation in the diagnosis of pancreas neuroendocrine tumors.

The study describes the results of Octreoscan SPET (OCTSPET) qualitative and semi-quantitative evaluation in 38 patients with suspected pancreatic neuroendocrine tumors. SPET studies were acquired at 4 and 24 hours after the injection of 111-220 MBq of 111-In-pentetreotide (Octreoscan). Qualitative and semi-quantitative evaluations were performed. The semi-quantitative approach was based on the time course of Tumor/Non Tumor ratios (TNTinc) from 4 and 24 hours. The OCTSPET results were true positive in 18 of 19 patients (10 gastrinoma, 5 insulinoma, 1 neuroendocrine tumor, 1 glucagonoma and 1 carcinoid) and false negative in one insulinoma. Besides, 20 of 38 patients (52%) had clinical plans modified after OCTSPET; OCTSPET was the only positive diagnostic test in 14 of 19 patients (73%) and guided the surgery decision in 14 of 25 patients (56%). In conclusion, these data indicate that Octreoscan represents an excellent tool for the diagnosis of pancreatic neuroendocrine tumors.

Results and potential of somatostatin receptor imaging in gastroenteropancreatic tract tumours.

BACKGROUND: Somatostatin receptor imaging with 111In-pentetreotide is widely accepted as an essential step in the management of patients affected by neuroendocrine tumours of the gastro-entero-pancreatic tract. Many data are already available on the high sensitivity of this technique. METHODS: We present a review of the published data together with the results of a study involving 253 patients submitted to somatostatin receptor imaging in three Italian hospitals. The patients were divided into two groups treated with different acquisition and processing protocols. RESULTS: The overall sensitivity was as high as (169/176) 96% in both groups, while the specificity was higher in the group in which semi-quantitative evaluation of somatostatin receptor density was performed: (23/26) 88% vs (39/51) 76%. The use of this method is recommended to increase the specificity of 111In-pentetreotide imaging. CONCLUSIONS: Our results with somatostatin receptor imaging in neuroendocrine tumours of the gastro-entero-pancreatic tract demonstrate that all figures of merit are excellent when imaging is accurately performed and analysed by experienced operators.

Characterizing an ectopic secreting carcinoid with indium-111-DTPA-D-Phe-pentetreotide.

UNLABELLED: This report describes a technique that increases the specificity of 111In-pentetreotide as evaluated in a patient with ectopic Cushing syndrome. METHODS: Two separate SPECT studies were performed with different pharmacologic protocols, both including treatment with cold octreotide. The imaging protocol provides acquisitions at 4 and 24 hr after injection. The quantitative approach was based on the ROI activity (manually designed) of an area of pathological lung uptake (ROI-T) versus background (ROI-NT). Histological, histochemical and specific mRNA measurements confirmed the presence of an SSR2 receptor carcinoid in the lung. RESULTS: The time course of ROI-T/ROI-NT is a linear increase between 4 and 24 hr. Washout with cold octreotide diminished the ROI-T activity content and the saturation protocol increased ROI-T/ROI-NT, confirming the specific nature of the uptake. CONCLUSION: Displacement and saturation protocols in 111In-pentetreotide imaging demonstrated the specificity of tumor binding.

Imaging of somatostatin receptors by indium-111-pentetreotide correlates with quantitative determination of somatostatin receptor type 2 gene expression in neuroblastoma tumors.

We reported previously that the relative level of gene expression for sst2, a subtype of somatostatin receptors, was positively related to patient outcome in the childhood tumor neuroblastoma (NB). Because sst2 binds with high-affinity octreotide and its scintigraphic derivative, 111In-pentetreotide, we tested the hypothesis of whether NB tumor imaging with 111In-pentetreotide gives similar information to ex vivo measurement of sst2 expression. We, therefore, studied simultaneously nine NB tumors with 111In-pentetreotide single photon emission computed tomography and competitive reverse transcription-PCR for sst2, along with other prognostic markers. To quantitate the relative abundance of 111In-pentetreotide binding to NB tumors, we developed a simple semiquantitative method, based on the mathematical analysis of 111In-pentetreotide association to cancer cell receptors at different time points (4 and 24 h). We indeed found that the ratio between the activity in a manually extracted region of interest from pathological (ROIT) and background (ROINT) area was increasing between early and late acquisition only in affected tissues. The rate of this pathological increase was quite different among patients and significantly (P < 0.01) related to the abundance of sst2 gene expression, as measured by competitive reverse transcription-PCR on ex vivo tumor samples. Because we demonstrated that in 26 NB patients the density of sst2 is strongly related to survival (P < 0.0005) and apparently independent from N-myc oncogene amplification (P < 0.05), we propose that NB tumor imaging with 111In-pentetreotide may have not only a diagnostic but also a prognostic value.