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Molecular Genetics & Genomic Medicine Oct 2023Annular pancreas (AP) is a congenital defect of unknown cause in which the pancreas encircles the duodenum. Theories include abnormal migration and rotation of the...
BACKGROUND
Annular pancreas (AP) is a congenital defect of unknown cause in which the pancreas encircles the duodenum. Theories include abnormal migration and rotation of the ventral bud, persistence of ectopic pancreatic tissue, and inappropriate fusion of the ventral and dorsal buds before rotation. The few reported familial cases suggest a genetic contribution.
METHODS
We conducted exome sequencing in 115 affected infants from the California birth defects registry.
RESULTS
Seven cases had a single heterozygous missense variant in IQGAP1, five of them with CADD scores >20; seven other infants had a single heterozygous missense variant in NRCAM, five of them with CADD scores >20. We also looked at genes previously associated with AP and found two rare heterozygous missense variants, one each in PDX1 and FOXF1.
CONCLUSION
IQGAP1 and NRCAM are crucial in cell polarization and migration. Mutations result in decreased motility which could possibly cause the ventral bud to not migrate normally. To our knowledge, this is the first study reporting a possible association for IQGAP1 and NRCAM with AP. Our findings of rare genetic variants involved in cell migration in 15% of our population raise the possibility that AP may be related to abnormal cell migration.
PubMed: 37635636
DOI: 10.1002/mgg3.2233 -
Pathologica Feb 2022Congenital anomalies of the liver, biliary tree and pancreas are rare birth defects, some of which are characterized by a marked variation in geographical incidence.... (Review)
Review
Congenital anomalies of the liver, biliary tree and pancreas are rare birth defects, some of which are characterized by a marked variation in geographical incidence. Morphogenesis of the hepatobiliary and pancreatic structures initiates from two tubular endodermal evaginations of the most distal portion of the foregut. The pancreas develops from a larger dorsal and a smaller ventral outpouching; emergence of the two buds will eventually lead to the fusion of the duct system. A small part of the remaining ventral diverticulum divides into a "pars cystica" and "pars hepatica", giving rise to the cystic duct and gallbladder and the liver lobes, respectively. Disruption or malfunctioning of the complex mechanisms leading to the development of liver, gallbladder, biliary tree and pancreas can result in numerous, albeit fortunately relatively rare, congenital anomalies in these organs. The type and severity of anomalies often depend on the exact moment in which disruption or alteration of the embryological mechanisms takes place. Many theories have been brought forward to explain their embryological basis; however, no agreement has yet been reached for most of them. While in some cases pathological evaluation might be more centered on macroscopic evaluation, in other instances small biopsies will be the keystone to understanding organ function and treatment results in the context of congenital anomalies. Thus, knowledge of the existence and histopathological characteristics of some of the more common conditions is mandatory for every pathologist working in the field of gastrointestinal pathology.
Topics: Biliary Tract; Gallbladder; Gastrointestinal Tract; Humans; Liver; Pancreas
PubMed: 35212316
DOI: 10.32074/1591-951X-709 -
Korean Journal of Radiology 2015This pictorial review aims to illustrate the magnetic resonance imaging (MRI) findings and presentation patterns of anatomical variations and various benign and... (Review)
Review
This pictorial review aims to illustrate the magnetic resonance imaging (MRI) findings and presentation patterns of anatomical variations and various benign and malignant pathologies of the duodenum, including sphincter contraction, major papilla variation, prominent papilla, diverticulum, annular pancreas, duplication cysts, choledochocele, duodenal wall thickening secondary to acute pancreatitis, postbulbar stenosis, celiac disease, fistula, choledochoduodenostomy, external compression, polyps, Peutz-Jeghers syndrome, ampullary carcinoma and adenocarcinoma. MRI is a useful imaging tool for demonstrating duodenal pathology and its anatomic relationships with adjacent organs, which is critical for establishing correct diagnosis and planning appropriate treatment, especially for surgery.
Topics: Ampulla of Vater; Choledochal Cyst; Diverticulum; Duodenal Diseases; Duodenum; Humans; Magnetic Resonance Imaging; Pancreas; Pancreatic Diseases; Radiography
PubMed: 26576112
DOI: 10.3348/kjr.2015.16.6.1240 -
Journal of Neonatal Surgery 2016Congenital duodenal obstruction is one of the commonest causes of neonatal intestinal obstruction. We are presenting our 15-year experience by analyzing clinical...
BACKGROUND
Congenital duodenal obstruction is one of the commonest causes of neonatal intestinal obstruction. We are presenting our 15-year experience by analyzing clinical spectrum and outcome in neonates with duodenal obstruction admitted at our center.
MATERIAL AND METHODS
The hospital records of all neonates admitted with duodenal obstruction from June 2000 to June 2015 were reviewed. The patient records were analyzed for antenatal diagnosis, age, sex, clinical presentation, diagnosis, associated anomalies, surgical procedures performed; postoperative morbidity and mortality. We excluded from our study malrotation of gut associated with congenital diaphragmatic hernia and abdominal wall defects.
RESULTS
A total of 81 patients were admitted, out of which 56 were males and 25 were females. Polyhydramnios was detected in 24 (30%) pregnancies. Average birth weight was 2.1±1.0Kg and average gestational age was 38 (SD±1) weeks with 17 (21%) preterm neonates. Presenting features were vomiting in 81(100%) which was bilious in 81% and non-bilious in 19%, epigastric fullness in 56 (69%) and dehydration in 18 (22%) and failure to thrive in 16 (19%). Most common cause of obstruction was duodenal atresia in 38 (46.9%), followed by malrotation of gut in 33 (40.7%), and annular pancreas in 4 cases. Depending upon site of location, infra-ampullary obstruction was the most common in 64 (79%), supra-ampullary in 9 (7.4%) and ampullary 8 neonates. Both duodenal atresia and malrotation of gut was present in 4 cases. X-ray abdomen was most commonly used investigation to confirm the diagnosis. All cases were managed surgically by open laparotomy. Eleven (13.5%) patients died due to sepsis and associated congenital anomalies.
CONCLUSION
Congenital duodenal obstruction most commonly presents in early neonatal period with features of upper GIT obstruction like vomiting and epigastrium fullness as in our series. Early antenatal diagnosis and surgical interventions hold the key in achieving good outcome. Associated congenital anomalies, prematurity, sepsis and delayed presentation are the main risk factors for post-operative mortality and morbidity.
PubMed: 27123397
DOI: No ID Found -
The Korean Journal of Gastroenterology... Apr 2022Annular pancreas is a rare congenital anomaly in which a thin band of pancreatic tissue partially or completely surrounds the duodenum. It is challenging to diagnose due...
Annular pancreas is a rare congenital anomaly in which a thin band of pancreatic tissue partially or completely surrounds the duodenum. It is challenging to diagnose due to its variable clinical presentation. Approximately two-thirds of patients have no symptoms in their lifetime, and most symptomatic cases are seen in neonates and infants. Symptomatic adult patients present with upper gastrointestinal symptoms, such as epigastric pain, vomiting, and postprandial fullness associated with gastric outlet obstruction. Complications associated with annular pancreas include peptic ulcer disease, pancreatitis, pancreatic head carcinoma, and biliary obstruction. Annular pancreas is also a rare cause of upper gastrointestinal bleeding in adults, but it should be considered as one of the differential diagnoses in patients presenting with a peptic ulcer and duodenal stricture. Here, we report the case of a 60-year-old man who presented with melena and was subsequently diagnosed with an annular pancreas.
Topics: Adult; Gastrointestinal Hemorrhage; Humans; Infant, Newborn; Male; Middle Aged; Pancreas; Pancreatic Diseases; Pancreatic Neoplasms; Peptic Ulcer
PubMed: 35473777
DOI: 10.4166/kjg.2022.012 -
Journal of Gastrointestinal Surgery :... May 2021Portal annular pancreas (PAP) is an anatomic variation due to aberrant fusion of the ventral and dorsal pancreatic buds around the portal vein. In this article, we... (Review)
Review
INTRODUCTION
Portal annular pancreas (PAP) is an anatomic variation due to aberrant fusion of the ventral and dorsal pancreatic buds around the portal vein. In this article, we present a case report with a systematic review of literature of patients undergoing major pancreatic surgery with associated PAP. We also intend to discuss and suggest possible surgical strategies to minimise major postoperative complications.
METHODS
A systematic literature search was conducted using the terms "circumportal," "periportal," "pancreas," "annular pancreas," "portal annular pancreas" and "pancreas anomaly." All articles describing portal annular pancreas with surgical resection were included.
RESULTS
We identified a total of 53 patients of PAP from 29 articles, who underwent pancreatic resection with a median age of 65 years. POPF (postoperative pancreatic fistula) was demonstrated in 42.55% of patients and 34% had CR (clinically relevant)-POPF. Following pancreaticoduodenectomy, pancreatic stump was reconstructed in all patients with either pancreaticojejunostomy or pancreaticogastrostomy. Standard line of pancreatic transection, i.e., division of anteportal portion at the pancreatic neck and stapling of the retroportal process, resulted in 71% incidence of CR-POPF, whereas it was only 16% when extended resection was performed to achieve single pancreatic stump and 12.5% when retroportal portion was sutured or ligated. Amongst distal pancreatic resections, 66% had POPF and 33% developed CR-POPF.
CONCLUSION
It is of utmost importance for pancreatic surgeons to diligently look for and identify PAP in the preoperative imaging. Additional imaging in the form of MRCP helps to define abnormal pancreatic ductal anatomy. Surgeons need to be cognisant of pancreatic stump management in patients with PAP to reduce associated higher rates of POPF.
Topics: Aged; Humans; Pancreas; Pancreatic Diseases; Pancreatic Fistula; Pancreaticoduodenectomy; Pancreaticojejunostomy; Postoperative Complications
PubMed: 33555524
DOI: 10.1007/s11605-021-04927-0 -
Journal of Minimal Access Surgery 2020Annular pancreas is a rare, congenital, rotational anomaly of pancreas, seen usually in newborns who present with features of duodenal obstruction. However, in adults,...
BACKGROUND
Annular pancreas is a rare, congenital, rotational anomaly of pancreas, seen usually in newborns who present with features of duodenal obstruction. However, in adults, only 24% of cases are present with duodenal obstruction. Surgery remains the procedure of choice in patients in whom symptoms can be attributed to duodenal obstruction and the goal of surgery is to relieve obstruction by bypassing the annulus. Laparoscopic Roux-en Y duodenostomy (DJ) is our preferred bypass approach for this condition. Literature search revealed that very few case reports have been published about laparoscopic management of annular pancreas, especially about duodenojejunal anastomosis. We present our experience in the laparoscopic management of symptomatic annular pancreas in adults and technique of the laparoscopic Roux-en Y DJ for annular pancreas.
MATERIALS AND METHODS
Between 1996 and 2016, a total of six adult patients underwent laparoscopic management for symptomatic annular pancreas. The demographic, perioperative and follow-up details were documented.
RESULTS
All surgeries were successfully performed by laparoscopic approach with no conversion to open. Five cases underwent Roux-en Y DJ and one underwent gastrojejunostomy. No major perioperative events occurred. The mean length of hospital stay was 5.6 days. Five out of six patients were followed up for 24 months, and no symptom recurrence was seen.
CONCLUSION
Laparoscopic Roux-en Y duodenojejunostomy could be used as a safe and physiological treatment for annular pancreas in adult patients and should be preferred for the treatment of duodenal obstruction due to annular pancreas.
PubMed: 30618433
DOI: 10.4103/jmas.JMAS_245_18 -
Revista de Gastroenterologia de Mexico... 2018
PubMed: 28527819
DOI: 10.1016/j.rgmx.2017.03.005 -
BMC Pregnancy and Childbirth Jul 2020The purpose of this research is to summarize the prenatal ultrasound characteristics of congenital duodenal obstruction (CDO), especially in the diagnosis of duodenal...
BACKGROUND
The purpose of this research is to summarize the prenatal ultrasound characteristics of congenital duodenal obstruction (CDO), especially in the diagnosis of duodenal diaphragm and annular pancreas. At present, few researchers have summarized the specific ultrasound features of duodenal diaphragm and annular pancreas.
METHODS
In this study, a retrospective analysis of 40 patients diagnosed with CDO between January 2016 and December 2019 was carried out. Data on the diagnosis, ultrasound images and outcomes of the patients were gathered, and the features of the patients were analyzed.
RESULTS
The results showed that there were 17 patients (42.5%) of congenital duodenal diaphragm, all with a 'rat tail' sign on the ultrasound images. Moreover, there were 4 patients (10.0%) of CDO caused by annular pancreas, all with a 'pliers' sign on the ultrasound images. We summarized the imaging features of the 'rat tail' sign and the 'pliers' sign.
CONCLUSION
The main conclusion of this study was that the 'rat tail' sign could be used as an indirect ultrasound feature to diagnose duodenal diaphragm. The 'pliers' sign could be used as a direct ultrasound feature in the diagnosis of annular pancreas in CDO.
Topics: Adult; Duodenal Obstruction; Female; Gestational Age; Humans; Male; Pancreas; Pancreatic Diseases; Pregnancy; Retrospective Studies; Ultrasonography, Prenatal
PubMed: 32620086
DOI: 10.1186/s12884-020-03078-5 -
The Korean Journal of Gastroenterology... May 2018
Topics: Betahistine; Endoscopy, Digestive System; Female; Humans; Meniere Disease; Pancreas; Pancreatic Diseases; Tomography, X-Ray Computed; Ultrasonography; Young Adult
PubMed: 29791990
DOI: 10.4166/kjg.2018.71.5.294