Foregut Anomalies Research Articles

Population-based prevalence study of common congenital malformations of the alimentary tract and abdominal wall in Thailand: a study using data from the National Health Security Office

BackgroundThe study aimed to estimate the prevalence of major congenital anomalies of the alimentary system and the abdominal wall in Thailand using a nationwide hospital discharge database from the National...

Parent-Reported Perceived Cognitive Functioning Identifies Cognitive Problems in Children Who Survived Neonatal Critical Illness.

Children with congenital anatomical foregut anomalies and children treated with neonatal extracorporeal membrane oxygenation (ECMO) are at risk for neurocognitive morbidities. We evaluated the association between the parent-reported pediatric perceived cognitive functioning (PedsPCF) questionnaire and the parent-reported behavior rating inventory of executive function (BRIEF) as well as neuropsychological assessments (NPA). We included 8-, 12- and 17-year-old participants who had joined a prospective follow-up program between 2017 and 2019. Self- and parental proxy-reported PedsPCF and proxy-reported BRIEF scores and their mutual association were evaluated. In total, 168 participants were included. Self- and proxy-reported PedsPCF scores were significantly below normal (mean (SD) z-score: −0.35 (0.88), p < 0.001; −0.36 (1.06), p < 0.001, respectively). Total BRIEF scores were significantly above normal (mean (SD) z-score 0.33 (0.98), p < 0.001). Proxy-reported PedsPCF scores and the Metacognition Index subscores of the BRIEF correlated strongly (τ = 0.551, p < 0.001). Self-reported PedsPCF scores were not associated with NPA test scores. Proxy-reported PedsPCF scores were positively associated with multiple NPA test scores, especially intelligence (R2 = 0.141). The proxy-reported PedsPCF revealed cognitive problems more often than the BRIEF in school-aged children who had survived neonatal critical illness. The proxy-reported PedsPCF may support clinical decision-making regarding the need for extensive neuropsychological assessments.

Patient-Reported Outcome Measures and Clinical Outcomes in Children with Foregut Anomalies.

Increasing numbers of children and adults with chronic disease status highlight the need for a value-based healthcare system. Patient-reported outcome measures (PROMs) are essential to value-based healthcare, yet it remains unclear how they relate to clinical outcomes such as health and daily functioning. We aimed to assess the added value of self-reported PROMs for health status (HS) and quality of life (QoL) in the long-term follow-up of children with foregut anomalies. We evaluated data of PROMs for HS and/or QoL among eight-year-olds born with congenital diaphragmatic hernia (CDH), esophageal atresia (EA), or congenital lung malformations (CLM), collected within the infrastructure of a multidisciplinary, longitudinal follow-up program. Clinical outcomes were categorized into different outcome domains, and their relationships with self-reported HS and QoL were assessed through multivariable linear regression analyses. A total of 220 children completed HS and/or QoL self-reports. In children with CDH and EA, lower cognition was significantly associated with lower self-reported HS. Due to the low number of cases, multivariable linear regression analysis was not possible in children with CLM. HS, QoL, and clinical outcomes represent different aspects of a child’s wellbeing and should be measured simultaneously to facilitate a more holistic approach to clinical decision making.

Improvement of exercise capacity following neonatal respiratory failure: A randomized controlled trial.

Exercise capacity deteriorates in school-aged children born with major anatomical foregut anomalies and/or treated with extracorporeal membrane oxygenation. The aim of the present study was to evaluate whether exercise capacity can be improved in the short term and long term in children born with anatomical foregut anomalies and/or treated with extracorporeal membrane oxygenation. Therefore, we evaluated two different interventions in this single-blinded randomized controlled trial. Forty participants were randomly assigned to group A: standardized anaerobic high-intensity interval training plus online lifestyle coaching program, B: online lifestyle coaching program only, or C: standard of care. Inclusion criteria were as follows: score ≤-1standard deviation (SD) on the Bruce protocol. Exercise capacity was assessed at baseline (T0), after 3months (T1), and after 12months (T2). Exercise capacity improved over time: mean (SD) standard deviation score (SDS) endurance time: T0 -1.91 (0.73); T1 -1.35 (0.94); T2 -1.20 (1.03): both P<.001. No significant differences in maximal endurance time were found at T1 (group A-C: estimated mean difference (SDS): 0.06 P=.802; group B-C: -0.17 P=.733) or T2 (group A-C: -0.13 P=.635; group B-C: -0.18 P=.587). Exercise capacity improved significantly over time, irrespective of the study arm. Not only residual morbidities may be responsible for reduced exercise capacity. Parental awareness of reduced exercise capacity rather than specific interventions may have contributed. Monitoring of exercise tolerance and providing counseling on lifestyle factors that improve physical activity should be part of routine care, and aftercare should be offered on an individual basis.

Endoscopic Decompression and Marsupialization of A Duodenal Duplication Cyst

Abstract Introduction Duodenal duplication cysts are rare congenital foregut anomalies, accounting for 2%–12% of all gastrointestinal tract duplications. Surgical excision entails risk of injury to the pancreaticobiliary structures due to proximity or communication with the cyst. We present a case of duodenal duplication cyst in a 3 year-old boy who successfully underwent endoscopic decompression. Case report AT is a young boy who first presented at 15 months of age with abdominal pain. There was one subsequent episode of pancreatitis. Ultrasonography showed the typical double wall sign of a duplication cyst and magnetic resonance cholangio-pancreatography showed a large 5 cm cyst postero-medial to the second part of the duodenum, communicating with the pancreaticobiliary system and causing dilatation of the proximal duodenum. He subsequently underwent successful endoscopic ultrasound guided decompression at 3 years of age under general anesthesia, and had an uneventful postoperative recovery. Conclusion Endoscopic ultrasound guided assessment and treatment of gastrointestinal duplication cysts is increasingly reported in adults. To the best of our knowledge, only one case of endoscopic treatment of duodenal duplication cyst, in an older child, has been reported thus far in the paediatric literature. In this paper, we review the current literature and discuss the therapeutic options of this rare condition.

A Rare Case of Intra- Abdominal Bronchogenic Cyst- A Case Report

Bronchogenic cysts are developmental foregut anomalies usually located in the mediastinum. A 90% of the bronchogenic cysts occur in the posterior aspect of superior mediastinum. Retroperitoneal location of a bronchogenic cyst is rare. We report a rare case of intra abdominal bronchogenic cyst. A CT scan was done for a 34-year-old female who presented with complains of heaviness in the right flank. CT scan revealed a large cyst of 10 x 6 cm in the right hypochondrium. Cyst was removed laparoscopically and the histopathology revealed a bronchogenic cyst.

The Effect of Adriamycin Exposure on the Notochord of Mouse Embryos

The notochord has important structural and signaling properties during vertebrate development with key roles in patterning surrounding tissues, including the foregut. The adriamycin mouse model is an established model of foregut anomalies where exposure of embryos in utero to the drug adriamycin leads to malformations including oesophageal atresia and tracheoesophageal fistula. In addition to foregut abnormalities, treatment also causes branching, displacement, and hypertrophy of the notochord. Here, we explore the hypothesis that the notochord may be a primary target of disruption leading to abnormal patterning of the foregut by examining notochord position and structure in early embryos following adriamycin exposure. Treated (n = 46) and control (n = 30) embryos were examined during the crucial period when the notochord normally delaminates away from the foregut endoderm (6-28 somite pairs). Transverse sections were derived from the anterior foregut and analyzed by confocal microscopy following immunodetection of extracellular matrix markers E-cadherin and Laminin. In adriamycin-treated embryos across all stages, the notochord was abnormally displaced ventrally with prolonged attachment to the foregut endoderm. While E-cadherin was normally detected in the foregut endoderm with no expression in the notochord of control embryos, treated embryos up to 24 somites showed ectopic notochordal expression indicating a change in characteristics of the tissue; specifically an increase in intracellular adhesiveness, which may be instrumental in structural changes, affecting mechanical and signaling properties. This is consistent with disruption of the notochord leading to altered signaling to the foregut causing abnormal patterning and congenital foregut malformations.

Bronchogenic Cyst of the Right Hemidiaphragm Presenting with Pleural Effusion

Bronchogenic cysts are developmental foregut anomalies usually located within the mediastinum or lung parenchyma. An isolated bronchogenic cyst of the diaphragm is very rare. Our case was a 56-year-old female patient who presented with pleuritic chest pain in her right chest. Chest and abdominal computed tomography revealed a large lobulated cystic mass that was accompanied with pleural effusion in the right lower hemithorax. The tumor showed focally calcified areas in the wall and abutted against the diaphragm. We performed complete excision of the cyst including a portion of the diaphragm attached to it. The pathological diagnosis was established as the bronchogenic cyst originating from the diaphragm. We report this case with a review of the literature.

Single site laparoscopic gastrostomy with a 4-mm bronchoscopic optical grasper

Percutaneous endoscopic gastrostomy (PEG) is a common technique for gastrostomy placement. However, certain children may not be candidates for PEG, such as those with craniofacial or foregut anomalies and prior surgery. Laparoscopic gastrostomy has also gained popularity, but this requires 2 or 3 trocar sites. The use of a larger single operating laparoscope or multiple-port laparoscopic techniques may not be practical in small children and infants. We describe a simple technique for gastrostomy tube placement in infants using a 4-mm operative bronchoscope. A 1.4-kg infant with a cleft palate and hypotonia underwent general anesthesia. A 5-mm laparoscopic port was placed in the left upper quadrant at the site of the intended gastrostomy. Following pneumoperitoneum, a 4-mm bronchoscopic optical grasper was inserted into the abdomen via the single port. The stomach was grasped and pulled out through the port site. The extracorporeal portion of stomach was matured as a gastrostomy. A low-profile gastrostomy button was placed. Proper position of the gastrostomy device was verified intraoperatively using dye. At 2 months follow-up, the child and gastrostomy are without complication. This technique is minimally invasive and provides direct visualization through one 5-mm abdominal port without the requirement of endoscopy and blind percutaneous entrance into the abdominal cavity. This single-site laparoscopic gastrostomy may be a practical alternative for infants who may not be candidates for PEG or larger single-port operating systems.

Esophageal Motility in the Human Neonate

After reading this article, readers should be able to: 1. Describe the developmental physiology of esophageal motility. 2. Understand the primary and secondary patterns of esophageal peristalsis. 3. Describe the functions of the upper and lower esophageal sphincters during esophageal bolus transit. The incidence of concomitant feeding and airway-related disorders is high among preterm infants, sick term infants, and infants who have congenital foregut anomalies. Although the lung bud is an offshoot of the primitive foregut, the effects of airway disease on swallowing or gastroesophageal reflux disease and vice versa remain unclear. The esophagus may function merely as a conduit tube between the oropharynx and stomach, but its physiology is complex, belying that simple role. The neonatal literature is replete with controversies pertinent to aerodigestive tract diseases and their management. This article focuses on recent thinking regarding the physiology of neonatal esophageal motility from the standpoint of both basic and clinical science. At 4 weeks of embryonic life, tracheal diverticulum appears at the ventral wall of the foregut, with the left vagus being anterior and right vagus posterior in position. At this stage of development, the stomach is a fusiform tube in which the dorsal side growth rate is greater than ventral side rate, creating greater and lesser curvatures. Embryologically, the airway and lung buds, pharynx, esophagus, stomach, and diaphragm are derived from the primitive foregut and or its mesenchyme and share similar control systems. (1)(2)(3) At 7 weeks of embryonic life, the stomach rotates 90 degrees clockwise, displacing the greater curvature to the left. The left vagus innervates the stomach anteriorly and right vagus innervates the posterior aspect of stomach. At 10 weeks, the esophagus and stomach are in the proper position, and circular and longitudinal muscle layers and ganglion cells are in place. Swallowing ability develops by …

Gastroesophageal Reflux in the Preterm Neonate

After completing this article, readers should be able to: 1. Describe the epidemiology and pathophysiology of gastroesophageal reflux (GER) in preterm neonates. 2. Delineate the associations of GER with apnea, chronic lung disease, behavior, and growth of preterm infants. 3. Review the investigations used to evaluate GER in preterm infants. 4. Describe nonpharmacologic and pharmacologic therapies for GER. Gastroesophageal reflux (GER) is a normal physiologic event occurring across the age spectrum. It may contribute to a variety of disorders, including esophagitis, feeding problems, and airway disease in all age groups. (1) A large number of symptoms and signs have been purported to be caused by GER despite a lack of data showing a clear association between a specific symptom and GER. In preterm infants, empiric therapy often is administered using agents of unproven efficacy and safety to treat symptoms that likely are unrelated to GER. In a survey on management practices for GER in preterm infants, common treatment strategies included positioning (98%) and slopes (96%), histamine 2 (H 2) receptor antagonists (100%), feed thickeners (98%), antacids (96%), prokinetics (79%), proton pump inhibitors (PPIs) (65%), and dopamine receptor antagonists (53%). (2)(3) The safety, efficacy, and appropriate dosing recommendations for most medical therapies remain uncertain in neonates. In this review, we attempt to summarize the current literature regarding physiology, pathophysiology, and diagnostic and management strategies for GER pertinent to the neonate, with an emphasis on the preterm infant. GER describes the retrograde movement of stomach contents (air or feeding, liquid or semisolid, acid or alkaline, enzymes or bile salts) into the esophagus. GER disease (GERD) occurs when GER causes symptoms or signs such as pain, poor weight gain, esophagitis, hematemesis, and airway symptoms, including apnea, aspiration, recurrent pneumonia, chronic lung disease (CLD), or large airway inflammation. However, any of these symptoms or signs …

Horseshoe lung in association with other foregut anomalies: What is the significance?

The authors present an unusual constellation of foregut anomalies in a newborn boy including horseshoe lung, esophageal atresia (EA) with distal tracheoesophageal fistula (TEF), congenital cystic adenomatoid malformation (CCAM), esophagobronchial fistulae, and a preduodenal pancreas. Horseshoe lung is a rare congenital anomaly in which the left and right lung bases are fused across the posterior mediastinum. The presentation is variable. The association of horseshoe lung with VACTERL anomalies and Bronchopulmonary foregut malformations is reviewed. J Pediatr Surg 37:1205-1207. Copyright 2002, Elsevier Science (USA). All rights reserved.

Congenital malformations of the lung and mediastinum—A quarter century of experience from a single institution

Congenital malformations of the lung are rare and vary widely in their presentation and severity. The authors reviewed 25 years of experience with specific reference to diagnosis, treatment, and outcome. From July 1970 to June 1995, 70 patients were diagnosed with congenital malformations of the lung, which included sequestration (n = 20), foregut anomalies (n = 20), congenital lobar emphysema (CLE; n = 10), congenital cystic adenomatoid malformation (CCAM; n = 5), benign lung cysts (n = 6), lung aplasia/hypoplasia (n = 4), and other miscellaneous disorders (n = 5). All patients with pulmonary hypoplasia presented at birth. With the exception of one patient, infants with CCAM and CLE presented before 5 months of age. All other patients presented from birth to 16 years of age. A prenatal diagnosis was accurate in two patients. Although prompt surgical management is the rule, the exceptions were children with bilateral lung involvement. Corrective surgery was delayed in some patients in whom extended respiratory support was required or in whom the delay led to an increase in pulmonary reserve. Extracorporeal membrane oxygenation (ECMO) was used in two patients pre- and postoperatively to manage persistent pulmonary hypertension. This review, representing the largest series of congenital lung lesions, showed that (1) prenatal diagnosis is useful but generally does not change the outcome; (2) computerized tomography (CT) is the optimum postnatal diagnostic imaging modality if chest radiography is not definitive; (3) ECMO can be an adjunct in treating associated pulmonary hypertension; (4) pulmonary resection (lobectomy) is the surgical procedure of choice for most lesions; (5) expected survival is good; and (6) pulmonary hypertension is the most common cause of mortality.

Symptomatic congenital lesions of the alimentary tract in adults

Congenital anomalies of the alimentary tract can evade detection into adulthood because they cause only moderate symptoms or they escape purview of a prepared observer. In other instances, evolution or copathogenesis may need to occur before the lesions become manifest. We have managed 17 of these patients presenting at ages 23 to 71 years. The median duration of symptoms was 5 years, ranging from 1 month to 23 years. Defects of foregut embryogenesis predominated (71%). We were able to establish the correct diagnosis before operating on nine patients, but three had already had a previous celiotomy for the same problem so a truly preoperative diagnosis was possible in only six (35%). The literature validates the dominance of foregut anomalies in adults. There is no older age limit that would exclude consideration of these lesions. Endoscopy, computerized tomography, and ultrasonography have greatly facilitated recognition, but our experience suggests that the principal obstacle to timely diagnosis is the reluctance to consider a congenital cause for an adult's symptoms.

Bronchopulmonary and Neurenteric Forms of Foregut Anomalies: Imaging for Diagnosis and Management

Bronchopulmonary foregut malformations encompass a great variety of anomalies that may arise from abnormal differentiation of the respiratory and alimentary tracts, abnormal separation of the two systems, or abnormal development of blood supply, perhaps singly or in combination, during early embryogenesis. The pulmonary and neurenteric forms share the common features of a pulmonary parenchymal opacification and/or intrathoracic mass, with the addition of vertebral anomalies in the instance of the neurenteric malformations. Plain radiographs serve as the starting point for diagnostic evaluation and sometimes are all that is needed; more often, though, the plain film findings suggest which road to follow in further imaging. No single imaging approach can be advocated for all patients. The lesion may be found initially, for example, on prenatal sonography. Ultrasonography also can establish the cystic nature of a mass and may help define vascular supply, although it cannot yet be said to have supplanted angiography's role in evaluating suspected sequestrations. For most intramediastinal or intrapulmonary masses without associated vertebral anomalies, CT will satisfactorily establish the cystic nature and should afford a reasonably confident preoperative diagnosis of bronchogenic cysts or type 1 or 2 cystic adenomatoid malformations. Type 3 cystic adenomatoid malformation, because of its relatively "solid" imaging characteristics, may not be diagnosed confidently by preoperative imaging. The finding of vertebral anomalies associated with a mediastinal mass especially warrants MR imaging to define intraspinal involvement. However, the association of vertebral or rib anomalies with apparent unilateral pulmonary agenesis or hypoplasia arouses suspicion of a bronchopulmonary foregut malformation that communicates with the gastrointestinal tract, and this uncommon situation calls for a barium examination. Radionuclide scintigraphy has an ancillary role in assessing foregut anomalies, but many findings from scintigraphy are relatively nonspecific and anatomic definition is poor. Scintigraphy may yield supportive information in cases of sequestration that have inconclusive findings as determined by plain radiographs and CT.

Bronchogenic Cysts Above and Below the Diaphragm: Report of Eight Cases

Bronchogenic cysts are developmental foregut anomalies usually located within the mediastinum. Although typically asymptomatic, infection or compression of adjacent structures may become prominent. Surgical excision is recommended to establish diagnosis, alleviate symptoms if present, and prevent future complications. We report our recent experience with bronchogenic cysts including 7 located within the mediastinum and a rare instance of a cyst below the diaphragm.

Tracheal Atresia, Proximal Esophageal Atresia, and Distal Tracheoesophageal Fistula: Report of Two Cases and Review of Literature

Two cases with unusual primitive foregut anomalies are described. Both children, born within 24 hours of each other, had complete tracheal atresia, proximal esophageal atresia, and distal tracheoesophageal fistula along with some minor anomalies; both needed immediate tracheostomy for adequate ventilation. At 15 months of age, both patients are thriving and developing normally with the exception of their speech. A review of the literature revealed no other survivors with this condition. Diagnosis of tracheal atresia should be kept in mind when a newborn infant exhibits respiratory distress without an audible cry associated with failure to advance the endotracheal tube beyond the vocal cords. An immediate tracheostomy can be lifesaving in these children.

Bronchogenic cyst in association with hypoplasia of the left pulmonary artery

Bronchogenic cysts are congenital foregut anomalies which may cause significant respiratory symptoms in infants and children. 1,3,5 Compression of the tracheobronchial tree can lead to overinflation, atelectasis and life-threatening respiratory disease. The case presented is unique in that it was associated with hypoplasia of the left pulmonary artery.

A case of intralobar pulmonary sequestration.

Pulmonary sequestration is the part of a spectrum of bronchopulmonary foregut anomalies in which a portion of lung parenchyma does not communicate with the tracheobronchial tree and usually receives its arterial supply from a systemic vessel. The sequestrated portion of the lung is susceptible to infection. The patient with this entity will have a paucity of symptoms and will present himself for treatment because of a persistent pneumonia. The associated aberrant systemic artery makes the preoperative diagnosis of the lesion imperative because of the life-threatening technical hazards posed by this artery. We experienced a case of intralobar pulmonary sequestration. Initially, the diagnosis of sequestration was unsuspected and open thoracotomy was done for management of homogenous cystic mass on left lower lobe, but one anomalous systemic artery from thoracic descending aorta to sequestrated lung was incidentally revealed. Then we underwent lower lobectomy and ligation of anomalous artery.