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World Journal of Gastroenterology Jul 2019Congenital duodenal obstruction (CDO) can be complete (CCDO) or incomplete (ICDO). To date there is no outcome analysis available that compares both subtypes. (Comparative Study)
Comparative Study
BACKGROUND
Congenital duodenal obstruction (CDO) can be complete (CCDO) or incomplete (ICDO). To date there is no outcome analysis available that compares both subtypes.
AIM
To quantify and compare the association between CCDO and ICDO with outcome parameters.
METHODS
We retrospectively reviewed all patients who underwent operative repair of CCDO or ICDO in our tertiary care institution between January 2004 and January 2017. The demographics, clinical presentation, preoperative diagnostics and postoperative outcomes of 50 patients were compared between CCDO ( = 27; atresia type 1-3, annular pancreas) and ICDO ( = 23; annular pancreas, web, Ladd´s bands).
RESULTS
In total, 50 patients who underwent CDO repair were enrolled and followed for a median of 5.2 and 3.9 years (CCDO and ICDO, resp.). CCDO was associated with a significantly higher prenatal ultrasonographic detection rate (88% versus 4%; CCDO ICDO, < 0.01), lower gestational age at birth, lower age and weight at operation, higher rate of associated congenital heart disease (CHD), more extensive preoperative radiologic diagnostics, higher morbidity according to Clavien-Dindo classification and comprehensive complication index (all ≤ 0.01). The subgroup analysis of patients without CHD and prematurity showed a longer time from operation to the initiation of enteral feeds in the CCDO group ( < 0.01).
CONCLUSION
CCDO and ICDO differ with regard to prenatal detection rate, gestational age, age and weight at operation, rate of associated CHD, preoperative diagnostics and morbidity. The degree of CDO in mature patients without CHD influences the postoperative initiation of enteral feeding.
Topics: Age Factors; Child; Child, Preschool; Digestive System Surgical Procedures; Duodenal Obstruction; Duodenum; Enteral Nutrition; Female; Gestational Age; Humans; Infant; Infant, Low Birth Weight; Infant, Newborn; Infant, Premature; Laparoscopy; Male; Postoperative Period; Retrospective Studies; Treatment Outcome
PubMed: 31391773
DOI: 10.3748/wjg.v25.i28.3787 -
The Eurasian Journal of Medicine Dec 2010Annular pancreas is an uncommon cause of duodenal obstruction in children. In this study, the clinical, radiological, and prognostic findings related to this disorder...
OBJECTIVE
Annular pancreas is an uncommon cause of duodenal obstruction in children. In this study, the clinical, radiological, and prognostic findings related to this disorder over a 12-year review period were analyzed.
MATERIALS AND METHODS
A retrospective review of 22 patients with annular pancreas who were treated with surgical repair between April 1998 and February 2010 was performed at two different pediatric surgical units. Presenting symptoms, associated anomalies, radiological findings, the type of surgery performed, postoperative outcomes, and complications were analyzed.
RESULTS
Twenty-two patients were identified. Thirteen of the 22 patients (59.1%) were born prematurely, 11 patients (50%) had low birth weight, 2 patients (9.1%) had very low birth weight and 1 patient (4.5%) had extremely low birth weight. The mean birth weight was 2285.23±675.12 g. (970-3300). All patients presented with vomiting, which was bilious in nine (40.9%). Nine patients (40.9%) had chromosomal anomalies. Corrective surgery consisted of duodenoduodenostomy in 9 patients (40.9 %), duodenojejunostomy in 9 patients (40.9%), and gastrojejunostomy in 4 patients (18.1%). Fourteen of the 22 patients have survived (63.6%). The causes of death were combinations of sepsis, pneumonia, brain hemorrhage, and cardiac anomaly.
CONCLUSION
Infants with annular pancreas associated with duodenal obstruction were often born prematurely and/or had low birth weights; many had cardiovascular anomalies. Annular pancreas associated with duodenal obstruction correlated strongly with the trisomy 21 karyotype among the chromosomal anomalies, as did duodenal atresia. The oral feeding tolerance time was nearly the same for all patients regardless of the surgical procedure used.
PubMed: 25610139
DOI: 10.5152/eajm.2010.33 -
Journal of Korean Medical Science Oct 2023In Korea, there have been no reports comparing the prevalence of major congenital anomalies with other countries and no reports on surgical treatment and long-term...
BACKGROUND
In Korea, there have been no reports comparing the prevalence of major congenital anomalies with other countries and no reports on surgical treatment and long-term mortality. We investigated the prevalence of 67 major congenital anomalies in Korea and compared the prevalence with that of the European network of population-based registries for the epidemiological surveillance of congenital anomalies (EUROCAT). We also investigated the mortality and age at death, the proportion of preterm births, and the surgical rate for the 67 major congenital anomalies.
METHODS
Korean National Health Insurance claim data were obtained for neonates born in 2013-2014 and admitted within one-year-old. Sixty-seven major congenital anomalies were defined by medical diagnoses classified by International Classification of Diseases-10 codes according to the EUROCAT definition version 2014. Mortality and surgery were defined if any death or surgery claim code was confirmed until 2020. Poisson distribution was used to calculate the 95% confidence interval of the congenital anomaly prevalence.
RESULTS
The total prevalence of the 67 major anomalies was 433.5/10,000 livebirths. When compared with the prevalence of each major anomaly in EUROCAT, the prevalence of spina bifida, atrial septal defect (ASD), congenital megacolon, hip dislocation and/or dysplasia and skeletal dysplasia were more than five times higher in Korea. In contrast, the prevalence of aortic atresia/interrupted aortic arch and gastroschisis was less than one-fifth in Korea. The proportion of preterm births was 15.7%; however, more than 40% of infants with anencephaly, annular pancreas and gastroschisis were preterm infants. Additionally, 29.2% of the major anomalies were admitted to the neonatal intensive care units at birth, and 25.6% received surgical operation. The mortality rate was 1.7%, and 78.2% of the deaths occurred within the first year of life. However, in neonates with tricuspid valve atresia and stenosis, duodenal atresia or stenosis, and diaphragmatic hernia, more than half died within their first month of life. ASD and ventricular septal defect were the most common anomalies, and trisomy 18 and hypoplastic left heart syndrome were the most fatal anomalies. All infants with aortic atresia/interrupted aortic arch and conjoined twins received surgery.
CONCLUSION
The proportion of surgeries, preterm births and mortality was high in infants with major congenital anomalies. The establishment of a national registry of congenital anomalies and systematic support by national medical policies are needed for infants with major congenital anomalies in Korea.
Topics: Infant; Female; Infant, Newborn; Humans; Child; Gastroschisis; Premature Birth; Constriction, Pathologic; Infant, Premature; Republic of Korea; Aortic Diseases; Congenital Abnormalities; Registries; Prevalence
PubMed: 37821084
DOI: 10.3346/jkms.2023.38.e304 -
Frontiers in Pediatrics 2022Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by motile ciliary dysfunction and impaired ultrastructure. Despite numerous studies, the...
Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by motile ciliary dysfunction and impaired ultrastructure. Despite numerous studies, the genetic basis for about 30% of PCD cases remains to be elucidated. Here, we present the identification and functional analysis of two novel mutations in the gene encoding coiled-coil domain-containing protein 40 (CCDC40), which are found in a familial case of PCD. These novel mutations, NM_017950.4: c.2236-2delA and c.2042_2046delTCACA, NP_060420.2: p.(Ile681fs), were identified by whole-exome sequencing (WES). Sanger sequencing was then performed to confirm the WES results and determine the gene sequences of the proband's parents. The c.2042_2046delTCACA mutation disrupts the reading frame of the protein and is therefore predicted to produce a non-functional protein. Using a minigene assay with the pcDNA3.1(+) plasmid, we further investigated the potential pathogenic effects of the c.2236-2delA mutation and found that this mutation leads to formation of a truncated protein splicing disruption. Thus, in summary, we identified two mutations of the gene that can be considered pathogenic compound heterozygous mutations in a case of familial PCD, thereby expanding the known mutational spectrum of the gene in this disease.
PubMed: 36245716
DOI: 10.3389/fped.2022.996332 -
BMJ Case Reports Feb 2022Duodenal stenosis and atresia are some of the most common forms of congenital bowel obstruction. The gold standard approach to treatment is duodenoduodenostomy, while...
Duodenal stenosis and atresia are some of the most common forms of congenital bowel obstruction. The gold standard approach to treatment is duodenoduodenostomy, while rare, gastrojejunostomy and duodenojejunostomies may still be used. We report a case of a 7-year-old male presenting with annular pancreas with duodenal stenosis that was diagnosed at birth as primary duodenal atresia and repaired by gastrojejunostomy with a Braun enteroenterostomy. Through successful reoperation with dual duodenojejunostomy and subsequent management, we treated the sequelae of the initial repair, including megaduodenum. Regions of duodenal obstruction must have direct anastomotic repair to prevent subsequent issues related to dysmotility. Otherwise, further surgical intervention and long-term medical management, such as the novel strategy reported, may be necessary.
Topics: Child; Duodenal Obstruction; Duodenum; Fetal Diseases; Humans; Infant, Newborn; Intestinal Atresia; Male; Missed Diagnosis; Pancreas; Pancreatic Diseases; Urinary Bladder
PubMed: 35228246
DOI: 10.1136/bcr-2021-248219 -
Radiologia Brasileira 2019
PubMed: 31435094
DOI: 10.1590/0100-3984.2017.0196 -
JOP : Journal of the Pancreas Sep 2010Portal annular pancreas is a rare congenital anomaly resulting from fusion of the pancreatic parenchyma around the portal vein/superior mesenteric vein. It is...
CONTEXT
Portal annular pancreas is a rare congenital anomaly resulting from fusion of the pancreatic parenchyma around the portal vein/superior mesenteric vein. It is asymptomatic, but could have serious consequences during pancreatic surgery, if unrecognized. We describe a variant of this anomaly encountered during pancreaticoduodenectomy and propose a new classification.
CASE REPORT
We report a 51-year-old male who underwent a pancreaticoduodenectomy for periampullary carcinoma. After division of the pancreatic neck, a sheath of tissue was found posterior and extending to the left of the portal vein. When we divided this tissue, a large duct was encountered; this duct communicated with the main pancreatic duct. On review of the CT images, the main pancreatic duct was seen to be passing posterior to the portal vein and a smaller accessory pancreatic duct was present anterior to the portal vein. We describe the surgical implications.
CONCLUSION
This variant of portal annular pancreas has not yet been reported during pancreaticoduodenectomy and we propose a new classification for this fusion anomaly.
Topics: Congenital Abnormalities; Humans; Male; Middle Aged; Models, Biological; Pancreas; Pancreatic Diseases; Pancreaticoduodenectomy; Rare Diseases
PubMed: 20818114
DOI: No ID Found -
Journal of Surgical Case Reports Jul 2023The annular pancreas (AP) is an uncommon congenital anomaly, characterised by a circumferential envelope in the second portion of the duodenum. In recent years, some...
The annular pancreas (AP) is an uncommon congenital anomaly, characterised by a circumferential envelope in the second portion of the duodenum. In recent years, some genetic component has been found in the etiology. A newborn full-term male, weighing at 1910 g at birth, had a history of intrauterine growth restriction and diagnosis of tetralogy of Fallot, Down syndrome and congenital hypothyroidism. Duodenal membrane is suspected after persistent postprandial vomiting and abdominal distension; his abdomen was distended, hyperresonant and soft. The gastroduodenal series showed data compatible with a duodenal membrane so exploratory laparotomy was performed, finding the pancreas completely wrapping the second portion of the duodenum, so a diamond-shaped-duodenoduodenostomy anastomosis was performed. The AP should be considered, especially in male neonates with postprandial vomiting, abdominal distension, who show some other congenital anomaly, and in the abdominal X-ray, the sign of the double bubble is observed.
PubMed: 37489161
DOI: 10.1093/jscr/rjad407 -
Radiology Case Reports Jun 2022VACTERL Syndrome affects multiple body systems and can include various anomalies of the Vertebral column, Anus and/or rectum, heart (Cardiac), Tracheo-Esophagus, kidneys...
VACTERL Syndrome affects multiple body systems and can include various anomalies of the Vertebral column, Anus and/or rectum, heart (Cardiac), Tracheo-Esophagus, kidneys (Renal), and Limbs. Patients with VACTERL syndrome are at increased risk of having a congenital duodenal obstruction that may be extrinsic in the form of an annular pancreas or intrinsic in the form of duodenal atresia, stenosis or web. Simultaneous presentation of both the annular pancreas and duodenal web is a rare clinical entity and typically presents in neonates. However, late presentation of annular pancreas combined with a duodenal web is exceedingly uncommon. We present a case of late diagnosis of annular pancreas with duodenal web resulting in an entrapped ingested foreign body.
PubMed: 35401909
DOI: 10.1016/j.radcr.2022.02.062 -
Gut Jan 1989A patient with annular pancreas presenting with severe upper abdominal pain is discussed. Endoscopic retrograde cholangiopancreatography (ERCP) was diagnostic, with...
A patient with annular pancreas presenting with severe upper abdominal pain is discussed. Endoscopic retrograde cholangiopancreatography (ERCP) was diagnostic, with successful injection of major and minor papillae showing pancreas divisum, an annular duct emptying at the major papilla and changes of severe chronic pancreatitis in all duct systems. Pylorus preserving pancreatoduodenectomy gave complete pain relief. The annulus was shown immunohistochemically to be entirely of ventral gland origin. Chronic pancreatitis was histologically less severe in the dorsal gland. Antegrade dye injection with x-ray showed dorsal to ventral connection in the resected specimen.
Topics: Adult; Chronic Disease; Duodenum; Endoscopy; Humans; Male; Pancreas; Pancreatitis; Radiography
PubMed: 2920917
DOI: 10.1136/gut.30.1.130