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Objectives: Surgery for intestinal malrotation (IM) aims to correct the defect and improve symptoms; however, many have persistent gastrointestinal (GI) symptoms postoperatively. We evaluated the incidence, clinical presentation, and long-term outcomes of children with surgically repaired IM and its possible association with disorders of gut and brain interaction (DGBI)., Methods: Multicenter retrospective study was conducted in patients from 0 to 21 years old, who had surgery for IM from 2000 to 2021 across three pediatric tertiary care centers. Data analyzed included demographics, time to diagnosis, idiopathic diagnosis, incidental diagnosis, postoperative follow-up, surgical time, and the need for surgery including bowel detorsion. Outcome variables were the presence of postoperative GI symptoms and DGBIs, and overall resolution of symptoms. We also evaluated the potential association of demographics and other included variables with our outcome variables., Results: Ninety-two patients with surgically corrected IM were included, 54% were male, and median age of diagnosis and surgical correction was 4.9 and 7.8 months, respectively. Median follow-up after surgery was 64 months. A total of 77% had postoperative GI symptoms, and notably, 78% of patients without symptoms before surgery (incidental diagnosis) developed GI symptoms postoperatively and 27% of patients met Rome IV criteria for a one or more DGBI. No factors were associated to the presence of postoperative symptoms or DGBIs in multivariate analysis. Female gender was the only factor associated with lack of resolution of symptoms at follow-up., Conclusion: Pediatric IM is commonly associated with postoperative GI symptoms and DGBI well beyond surgery. An increased awareness about the prevalence of DGBI in these patients may help reach a prompt and accurate diagnosis, and improve their quality of life., (© 2024 European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition.)

Background: Intestinal malrotation is an infrequent congenital anomaly primarily observed in neonates, and adult-onset cases are exceedingly rare. Studies on adult congenital intestinal malrotation are limited., Methods: A case with congenital intestinal malrotation is reported in our study. The clinical data were collected and the treatment process and effect were evaluated., Results: A 45-year-old female who had been experiencing vomiting for over 40 years was admitted to our hospital. According to the result of CT scan, intestinal volvulus accompanied by bowel obstruction was suspected. Then laparoscopic examination was applied to the patient and was ultimately diagnosed with adult congenital intestinal malrotation. We performed Ladd's procedure combined with gastrojejunostomy and Braun anastomosis. The patient recovered well and was successfully discharged from the hospital on the 13th day after surgery. After a 6-month follow-up, the symptom of vomiting was significantly alleviated and body weight was gained for 10 kg. She was very satisfied with the treatment., Conclusion: Adult congenital intestinal malrotation is a rare disease that is often misdiagnosed owing to nonspecific clinical manifestations. Therefore, awareness about this condition should be enhanced. Surgery remains the cornerstone of treatment for this disease. Combining gastrojejunostomy and Braun anastomosis with the traditional Ladd procedure can optimize surgical outcomes., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.)

Background: D-lactic acidosis (DLA) is a serious complication of short bowel syndrome (SBS) in children with intestinal failure (IF). Malabsorbed carbohydrates are metabolized by bacteria in the intestine to D-lactate which can lead to metabolic acidosis and neurologic symptoms., Methods: A retrospective chart review was performed in children ≤18 years old with SBS who had one of the following criteria: unexplained metabolic acidosis, neurologic signs or symptoms, history of antibiotic therapy for small bowel bacterial overgrowth, or high clinical suspicion of DLA. Cases had serum D-lactate concentration >0.25 mmol/L; controls with concentrations ≤0.25 mmol/L., Results: Of forty-six children, median age was 3.16 (interquartile range (IQR): 1.98, 5.82) years, and median residual bowel length was 40 (IQR: 25, 59) cm. There were 23 cases and 23 controls. Univariate analysis showed that cases had significantly lower median bicarbonate (19 vs. 24 mEq/L, p = 0.001), higher anion gap (17 vs. 14 mEq/L, p < 0.001) and were less likely to be receiving parenteral nutrition, compared with children without DLA. Multivariable analysis identified midgut volvulus, history of intestinal lengthening procedure, and anion gap as significant independent risk factors. Midgut volvulus was the strongest independent factor associated with DLA (adjusted odds ratio = 17.1, 95% CI: 2.21, 133, p = 0.007)., Conclusion: DLA is an important complication of pediatric IF due to SBS. Patients with IF, particularly those with history of midgut volvulus, having undergone intestinal lengthening, or with anion gap acidosis, should be closely monitored for DLA., (© 2023 European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition.)

Rationale: Patent vitellointestinal duct is the most common omphalomesenteric duct anomaly to present with symptoms., Patient Concerns: A 10-day-old child presented with increase in the size of a polypoidal lesion into a large, "Y"-shaped reddish, prolapsing lesion, discharging gaseous, and fecal matter at her umbilicus. A laparoscopic exploration was performed, followed by wedge resection and anastomosis. No complications occurred during postoperative follow-up., Diagnoses: A patent vitellointestinal duct with ileal prolapse., Interventions: The resection of extended intraperitoneal intestinal tube was performed., Outcomes: During the follow-up 3 months after surgery, the umbilical cord of the child healed well after surgery., Lessons: Timely surgical treatment can minimize the occurrence of complications, and the overall prognosis is good after surgery., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.)

Competing Interests: The authors report no conflicts of interest.

There are debates on the management of immature ovarian teratoma and its recurrence. This study aimed to report the incidence of pelvic masses after surgery for immature ovarian teratoma and to identify prognostic factors of disease-free survival after surgery, discussing aspects of primary treatment and postoperative management. Data on the diagnosis and treatment of patients with immature teratomas were collected. Follow-up data were acquired from clinic visits and telephone interviews. Disease-free survival was defined as the time interval between the initial surgery for immature ovarian teratoma and the diagnosis of a new pelvic mass. Survival curves were drawn using the Kaplan-Meire method, and multivariate analysis was performed using the Cox proportional hazard regression model using PASW statistics software. The estimated 5-year disease-free survival and overall survival were 74.3% (95%CI 63.9%-84.7%) and 96.5% (95%CI 91.6%-100.0%), respectively. The incidence of growing teratoma syndrome and immature teratoma relapse at a median follow-up of 46 months were 20.0% and 7.7%, respectively. Two patients died of repeated relapses or repeated growing teratoma syndrome. Rupture of initial lesions (RR 4.010, 95%CI 1.035-5.531), lymph node dissection (RR 0.212, 95%CI 0.051-0.887) and adjuvant chemotherapy (RR 0.143, 95%CI 0.024-0.845) were independent prognostic factors for disease-free survival. The development of growing teratoma syndrome is more prevalent than relapse after treatment of immature ovarian teratomas. Lymph node dissection and chemotherapy are recommended to reduce recurrence. Close surveillance and active surgical intervention are important for the diagnosis and appropriate management of new pelvic masses., (Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.)

Introduction: Endoscopic ultrasound-guided hepaticogastrostomy (EUS-HGS) is a novel drainage option for patients with an inaccessible papilla. Although EUS-HGS has clinical benefits in patients for whom endoscopic retrograde cholangiopancreatography (ERCP) has failed, the rates of adverse events (AEs) associated with EUS-HGS, such as bile peritonitis and stent migration, are higher than for other procedures. The development of a dedicated system for EUS-HGS is therefore desirable to reduce the rate of AEs. We developed a dedicated system for EUS-HGS (HG01 system) which is composed of a 19-gauge needle, 0.025-inch guidewire, a thin delivery system for tract dilation, and an antimigration metal stent. This study is designed to evaluate the efficacy and safety of EUS-HGS using the HG01 system in malignant biliary obstruction., Methods/design: This is a single-arm multicenter prospective study involving 40 patients across six tertiary centers in Japan. Patients with an unresectable malignant biliary obstruction in whom biliary drainage with ERCP failed, is not possible, or is very difficult will be registered in the study. The primary endpoint is the clinical success rate. The secondary endpoints are the technical success rate, procedure-related AE rate, procedure time, procedure success rate using only the HG01 system, stent patency rate, re-intervention success rate, re-intervention method, survival rate, and distance of movement of the stent position., Discussion: We expect use of the HG01 system to reduce the rate of AEs during EUS-HGS, especially bile leakage and stent migration. If the efficacy and safety of EUS-HGS using the HG01 system is confirmed in the present study, it is likely to be considered the first-choice device for use during EUS-HGS., (Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.)

Competing Interests: The authors report no conflicts of interest.

Competing Interests: The authors report no conflicts of interest.

Competing Interests: The authors report no conflicts of interest.

Competing Interests: The author reports no conflict of interest.

Objectives: Currarino syndrome (CS) is a congenital disorder that consists of a triad of anomalies: presacral mass, sacral dysgenesis, and anorectal malformations. Few cases of CS with neuroendocrine tumors (NETs) have been reported. In this study, we sought to determine the prevalence and characteristics of NET in patients with CS., Methods: Mayo Clinic electronic medical records were searched for patients with CS. Data on demographics, CS diagnosis, family history, genetic testing, and NET diagnosis were extracted., Results: A total of 26 patients with CS were identified with 3 (11.5%) of them having an additional diagnosis of NET. Three patients had a family history of NET (11.53%), and 7 patients had a family history of CS (26.9%). Of the 3 NET/CS patients, 2 had a confirmed primary NET from the presacral mass, with the third patient demonstrating focal uptake on the somatostatin receptor imaging within the presacral. Two patients received octreotide, followed by peptide receptor radionuclide therapy. The other patient was not treated because of complete resection of presacral mass and is currently undergoing surveillance scans., Conclusions: In our patients with CS, the prevalence of NET is 11.53%. The coexistence of 2 rare conditions, CS and presacral NET, suggests that there may be an etiological connection.

Background: In contrast with other malformations, congenital anomalies of the gastrointestinal tract have been scarcely investigated., Methods: The prevalence of gastrointestinal malformations with special reference to associated disorders and intrauterine growth was retrospectively analyzed in the newborn infants admitted to the Neonatal Intensive Care Unit of the Department of Pediatrics, University of Pécs, Hungary, in the 14-year period between 1987 and 2000., Results: Of 4,241 neonates with gastrointestinal malformations, 241 (5.68%) had a total of 304 malformations (excluding Hirschsprung disease). In 133 patients, the gastrointestinal anomalies were observed as one of multiple malformations; a specific syndrome or association was diagnosed in 36 cases. Skeletal disorders were the most frequently associated anomalies. Intrauterine growth retardation was found in a large number of patients with both isolated and multiple gastrointestinal malformations (38.9% and 30.8%, respectively)., Conclusions: Gastrointestinal malformations often are complicated by skeletal anomalies and intrauterine growth retardation. The association among these disorders requires further investigation. However, from a practical point of view, this association should be considered in treating affected patients.

Background: Methotrexate has multiple therapeutic uses in women of reproductive age including treatment for ectopic pregnancy, neoplastic disease, autoimmune disorders, and inflammatory conditions. More frequent use of methotrexate may result in an increased number of exposures in pregnant women and their fetuses., Case: A 16-year-old gravida 1, para 0 used oral methotrexate treatment of 7.5 mg per day for psoriasis for 2 days at 3.5 weeks postconception. Multiple anomalies were noted on an 18-week ultrasound. Fetopsy revealed craniofacial, axial skeletal, cardiopulmonary, and gastrointestinal abnormalities., Conclusion: A minimal, low-dose, brief exposure to methotrexate in the first trimester resulted in a fetus with multiple internal and external malformations. Some of the anomalies (craniofacial and skeletal) have been previously reported with first- trimester methotrexate exposure. This case depicts the association of cardiopulmonary and gastrointestinal abnormalities with methotrexate exposure.

More than 50% of infants with Down syndrome have associated defects that cause considerable morbidity and mortality. We evaluated the hypothesis that the trisomic genome interacts with environmental factors to increase the risk for specific associated defects. We evaluated risk factors present during early pregnancy in a multiracial population of 687 infants with Down syndrome. Mother's cigarette smoking was associated with the grouped cardiac defects [odds ratio (OR)=2.0; 95% confidence interval (CI) = 1.2-3.2]. When adjusted for other cardiac defects and maternal race, the following specific defects were associated with smoking: atrioventricular canal (OR = 2.3; 95% CI = 1.2-4.5), tetralogy of Fallot (OR = 4.6; 95% CI = 1.2-17.0), and atrial septal defects without ventricular septal defect (OR = 2.2; 95% CI = 1.1-4.3). Hirschsprung disease was associated with mother's daily consumption of more than three cups of coffee (OR = 6.02; 95% CI = 1.2-29.7) and with mother's fever (OR = 3.4; 95% CI = 0.7-16.4), but the number of cases was small. Use of alcohol was not associated with any defect. Mother's race, age, parity, income, or education did not confound the associations. Results suggest that environmental factors can modify the occurrence of associated anomalies in the embryo with Down syndrome.

We report three babies with malformations of left-right asymmetry who were born to mothers with insulin-dependent diabetes mellitus. One infant had left isomerism and asplenia, one had polysplenia, and the third baby had situs inversus with a neural tube defect. Defects of left-right asymmetry have not previously been well recognized as part of the spectrum of anomalies associated with maternal diabetes. We believe that the association of maternal diabetes with these malformations in the infants is not coincidental, and that diabetes mellitus has an aetiological role in this spectrum of abnormalities. Two of the mothers had elevated HbA1C levels in pregnancy, and thus the malformations may be due to poor glycaemic control, although other teratogenic mechanisms associated with diabetes cannot be excluded. Finally, to our knowledge, the finding of left isomerism with asplenia (part of the spectrum of right isomerism) is rare. The occurrence of both forms of isomerism in different parts of the same body supports the model of random development of laterality following the interruption of normal developmental processes.

Human monozygous (Mz) twins are described with a pattern of abnormalities similar to those reported in heterozygous expression of the mouse mutant disorganisation gene (Ds). These include anomalies of the skeletal, gastrointestinal, genito-urinary and central nervous system. Concordance in Mz twins is suggestive of a genetic aetiology and lends further credence to the putative existence of a human homologue for Ds.

Intestinal malrotation may be complicated by volvulus and intestinal necrosis. One hundred two children (64 male, 38 female) undergoing surgical abdominal exploration from 1977 to 1987 had malrotation. Fifty-two patients were less than 7 days of age, 13 from 8 to 30 days, 26 from 31 to 365 days, and 11 were older than 1 year of age. Of infants, 39 of 65 had 40-week gestations, 18 of 65 had 36- to 39-week gestations, and 8 of 65 had less than 36-week gestations. Chief symptomatology included: bilious emesis (47), intestinal obstruction (19), abdominal pain (11), and bloody stools (7). Seventy patients had congenital anomalies (50 single, 20 multiple). Diagnostic evaluations included 56 upper gastrointestinal series and 27 barium enemas. Each patient underwent correction of malrotation and appendectomy, and correction of congenital anomalies (omphalocele-9, gastroschisis-6, diaphragmatic hernia-7). Complications included short gut (2), sepsis (5), feeding difficulties (2), pneumonia (3), small bowel obstruction (2), and other (15). Nine patients (8.8%) died (trisomy 18-1, trisomy 13-1, intestinal necrosis-3, hepatic failure-1, prematurity-1, other sepsis-2). Two hundred sixteen children with intestinal malrotation have been treated from 1937 to 1987. Mortality rate has improved from 23% to 2.9%.

A 23-year-old female patient with the acrorenal syndrome is described. In addition to acral and renal malformations, she had anomalies of the gastrointestinal and genital tracts. An annular pancreas had caused duodenal obstruction and had been associated with malrotation of the bowel. Secondary sexual characteristics were absent; no ovaries were identified by pelvic ultrasound, and endocrine investigations were compatible with non-functioning ovaries.

A case of vaginally delivered stillborn female thoracopagus conjoined twins is presented. Each twin had a cleft lip and cleft palate. They shared a common pericardial sac and a common abdominal cavity. The liver was conjoined, and the small bowel was common to both twins. One twin was asplenic. Although the twins were monozygotic, their viscera were neither identical nor mirror-image to each other, and the visceral anomalies were unique to each twin. The hearts were fused, and communications existed between the circulations at the atrial and ventricular levels. One twin had single atrium, solitary (right) ventricle, malposed great arteries, pulmonary valvular atresia and infundibular stenosis, right aortic arch with aberrant left subclavian artery and with left ductus arteriosus, and atresia of the common pulmonary vein. The other twin had two atrial septal defects of the fossa ovalis and sinus venosus types, partial anomalous pulmonary venous connection, persistent left superior vena cava to coronary sinus, solitary (left) ventricle, malposed great arteries, and left aortic arch with aberrant right subclavian artery and with left ductus arteriosus. There was atrial and ventricular fusion. On hypothetical grounds, and in a comparable anatomic situation, salvage of one twin might be possible by surgical means, while the other twin was sacrificed.

Ultrasonography now offers the opportunity to evaluate selected high-risk pregnancies for the presence of fetal malformations that are amenable to corrective measures as well as of those that remain incompatible with life. The authors observed major fetal malformations in 1% of 6050 cases that underwent antenatal ultrasonographic evaluation. A series of 9 prenatally diagnosed gastrointestinal tract anomalies, including the first documented instances of esophageal atresia diagnosed in utero, is presented in detail. Abdominal wall defects were those most commonly encountered in this series and were diagnosed as early as 16 weeks' gestation. The gastrointestinal system is not only one of the most common sites of birth defects, but it is also the one wherein lies the greatest hope for a successful neonatal outcome. The value of prenatal diagnosis in a comprehensive perinatal approach to congenital gastrointestinal lesions is emphasized. Forewarning the obstetrician and altering the pediatric-surgical team for resuscitation, immediate postnatal evaluation, and timely intervention decrease neonatal mortality and increase the chance of long-term infant survival.

The aim of this study was to determine the types, patterns, and frequencies of congenital anomalies among newborns of both consanguineous and nonconsanguineous parents in southern Iran. From 9526 consecutive pregnancies observed, 9623 newborns resulted (9431 singleton and 95 sets of multiple gestation). There were 7261 newborns from nonconsanguineous parents and 2362 (24.5%) babies from consanguineous marriages. Of the total pregnancies, 1.54% resulted in malformed children (1.53% of singleton and 2.1% of multiple gestations). The incidence of congenital abnormalities in newborns of nonconsanguineous parents was 1.66% as compared to 4.02% for newborns of the consanguineous group. Major and multiple malformations were found to be slightly more common in the consanguinous group. Prematurity, prenatal mortality rate, and congenital abnormalities were more common in the consanguineous group. Probably the closer the familial relationship of the parents, the greater the chances of congenital abnormalities.

Duplications of the alimentary tract are unusual congenital anomalies that frequently present a diagnostic as well as therapeutic challenge to the surgeon. Because these lesions occur so infrequently, they are often not suspected until encountered intraoperatively. Due to the complicated anatomy and common blood supply shared between the duplication and associated native bowel, appropriate management requires a familiarity with the anatomy and clinical characteristics of this entity. To better define the range of patient characteristics, clinical presentation, and preferred therapy, 20 enteric duplications were reviewed in 17 patients treated at the Children's Hospital Medical Center from 1956 to 1986. Ages of patients ranged from 1 day to 11 years; 60% were less than 2 years of age at initial presentation. Seven duplications in six patients involved alimentary tract structures of foregut derivation (esophagus, stomach, and Parts I and II of duodenum), with a predominance of girls (4 of 6). Most of these patients (67%) presented with moderate to severe acute respiratory distress and a mass present on chest radiograph. In 67% of the patients, the correct diagnosis was established before operation. None required emergency operative intervention. By contrast, 13 duplications in 11 patients were of midgut or hindgut derivation (Parts III and IV of the duodenum, jejunum, ileum, and colon). In this group of patients, 62% of the duplications involved the cecum, 23% involved the ileum, and 16%, the jejunum. Seventy-eight per cent of the patients were boys. The most common symptoms were nausea and vomiting, and the most common sign was a palpable abdominal mass. Emergency operative intervention was required of eight of 11 patients with duplications involving the small bowel and colon. Three patients presented with an intussusception, four with signs and symptoms consistent with acute appendicitis, one with a small bowel obstruction, and two with gastrointestinal hemorrhage due to the presence of ectopic gastric mucosa within the duplication. It was found that two important points must be considered in regard to the management of enteric duplications: (1) the common blood supply shared between the duplication and native bowel must be carefully protected to avoid undue sacrifice of normal bowel, and (2) the presence of heterotopic gastric mucosa in 35% of patients negates internal drainage.(ABSTRACT TRUNCATED AT 400 WORDS)

The CT and ultrasound findings of malignancy arising in walls of alimentary tract duplication cysts are previously unreported. We describe two cases where identification of both cyst and tumor nodule and separation of the mass from other visceral organs was achieved. We review the English literature reporting this unusual condition and suggest that CT and ultrasound are of great value in accurate preoperative diagnosis.

This report reviews the experience with 78 alimentary tract duplications found in 64 patients over a 40 year period at the Children's Hospital of Pittsburgh. Ten patients had the duplication discovered at autopsy. Multiple duplications were found in 15% of patients. The symptoms and physical findings of a duplication varied with location, size and mucosal pattern. About one-fifth of the duplications contained ectopic mucosa, usually gastric. Two-thirds of the patients were diagnosed prior to one year of age. Vertebral anomalies, as a clue to the presence of the lesion, were present in 15% of the patients. The most common indications for surgery included a mediastinal or abdominal mass, intestinal obstruction, and gastrointestinal bleeding. The results of surgery were favorable, with a mortality of 20%. Surgical complications accounted for six deaths, while four children died of severe associated anomalies. Three others died without surgical treatment, but with symptoms from the duplication.

Alimentary tract duplications are unusual anomalies that may require surgical intervention in the neonate, infant, and occasionally in the older child. The clinical presentation of patients with alimentary tract duplications includes bleeding, abdominal pain, intussusception, and respiratory distress, or it may be an incidental finding on either abdominal examination or chest x-ray. A review of 96 patients with 101 duplications seen over the last 37 years is reported herein. Twenty-one duplications were confined to the thorax; three were thoracoabdominal, and 77 were abdominal. Seventy-four patients presented as infants less than 2 years of age, and 22 patients were older. Ectopic gastric mucosa was found in 21 duplications, and pancreatic tissue was found in five. Seventy-five duplications were cystic and 26 were tubular. Ultrasonography, computed tomography (CT), and myelography are helpful diagnostic tools. Ninety-four of the 96 patients underwent surgical management for their duplications. One duplication was found at necropsy, and one patient was asymptomatic and did not undergo operation. A single death occurred in a 2-day-old infant who had intrauterine volvulus and meconium peritonitis. Management was based on the age and condition of the patient, the location of the lesion, whether it was cystic or tubular and communicating with the true intestinal lumen, and whether it involved one or more anatomic locations. Generally, total excision was preferred, but staged approaches were sometimes necessary.