Intestinal Anomalies Research Articles

Mesenteric Base Width: Abdominal Wall Diameter Correlates With Intestinal Rotational Anomalies in Infants

IntroductionSymptomatic malrotation requires urgent Ladd procedure. Patients with incidental or indeterminate findings have historically been managed with observation or operatively. Fluoroscopic identification of the duodenojejunal junction (DJJ) and ileocecal junction (ICJ) can guide operative decision-making, but algorithms have not been validated. This study aimed to determine whether fluoroscopic mesenteric base width (MBW) standardized to abdominal wall diameter (AWD) correlates with intraoperative anatomy in infants. MethodsWe retrospectively reviewed patients between 2013 and 2023 who were <1 year with fluoroscopy identifying DJJ and ICJ. Infants with normal rotation evaluated for digestive concerns were included. Congenital conditions with intestinal nonrotation were excluded. Two radiologists independently measured MBW as a diagonal line from DJJ to ICJ and maximal transverse AWD from inferior ribs. A ratio was calculated and compared between groups. Wilcoxon rank-sum and Kruskal–Wallis tests with p < 0.05 were considered significant. Area under the receiver operating characteristic curve (AUROC) was used to identify optimal ratio cutoff. ResultsFifty-eight patients, 22 normally rotated and 36 with intestinal rotational abnormality (IRA), met inclusion criteria. Preoperative radiographic concern for malrotation differed between groups (p < 0.0001). Median MBW:AWD was significantly lower in IRA than normal rotation based on imaging (0.31 vs 0.65, p < 0.0001). Optimal MBW:AWD of 0.55 had an AUROC of 0.9578. ConclusionsRadiographic measurement of MBW:AWD accurately predicted IRA from normal rotation with an optimal ratio cutoff of 0.55. Further validation will determine whether this ratio should play a role in management of incidental IRA or indeterminate findings on UGI. Level of EvidenceIII.

High-altitude hypoxia promotes BRD4-mediated activation of the Wnt/β-catenin pathway and disruption of intestinal barrier

Hypobaric hypoxia, commonly experienced at elevated altitudes, presents significant physiological challenges. Our investigation is centered on the impact of the bromodomain protein 4 (BRD4) under these conditions, especially its interaction with the Wnt/β-Catenin pathway and resultant effects on glycolytic inflammation and intestinal barrier stability. By combining transcriptome sequencing with bioinformatics, we identified BRD4's key role in hypoxia-related intestinal anomalies. Clinical parameters of altitude sickness patients, including serum BRD4 levels, inflammatory markers, and barrier integrity metrics, were scrutinized. In vitro studies using CCD 841 CoN cells depicted expression changes in BRD4, Interleukin (IL)-1β, IL-6, and β-Catenin. Transepithelial electrical resistance (TEER) and FD4 analyses assessed barrier resilience. Hypoxia-induced mouse models, analyzed via H&E staining and Western blot, provided insights into barrier and protein alterations. Under hypoxic conditions, marked BRD4 expression variations emerged. Elevated serum BRD4 in patients coincided with intensified Wnt signaling, inflammation, and barrier deterioration. In vitro, findings showed hypoxia-induced upregulation of BRD4 and inflammatory markers but a decline in Occludin and ZO1, affecting barrier strength—effects mitigated by BRD4 inhibition. Mouse models echoed these patterns, linking BRD4 upregulation in hypoxia to barrier perturbations. Hypobaric hypoxia-induced BRD4 upregulation disrupts the Wnt/β-Catenin signaling, sparking glycolysis-fueled inflammation and weakening intestinal tight junctions and barrier degradation.

Adult intestinal malrotation: imaging findings.

Intestinal malrotation is the most common congenital anomaly of the small intestine. However, it is associated with delayed diagnosis due to the lack of specificity of its symptoms, which can lead to devastating consequences such as intestinal volvulus or massive intestinal necrosis. We present a clinical case in which we highlight the importance of abdominal computed tomography and the detection of its characteristic signs for the early identification of this pathology.

A Case Report on Congenital Biliary Atresia with Ventricular Septal Defect

Biliary atresia, an obstructive cholangiopathy with an idiopathic etiology, is a congenital disorder that eventually destroys liver parenchyma. In some circumstances, it is associated with other abnormalities such as congenital heart diseases, intestinal, and spleen anomalies. Diagnosis of biliary atresia is based on clinical manifestations and specific diagnostic tests. Prolonged pathological jaundice is a critically important sign in newborns that needs to be recognized early in order to reduce the chances of further complications. The mainstay of treatment is the Kasai procedure (portoenterostomy), and it is eighty percent successful if performed before or within the first two months of life.Here, we report a case of a two-month-old baby who had biliary atresia with a ventricular septal defect (VSD). The baby had a prolonged history of jaundice, pruritus, yellow-colored urine, and pale stools. He was initially brought to a local clinic for his jaundice, where pharmacological treatment was commenced. However, the symptoms persisted, and he was referred to a hospital where he was placed under blue light phototherapy with no marked improvement in his symptoms. For a definite diagnosis and treatment, he was then referred to a multispecialty hospital where diagnostic tests were ordered. The HIDA scan showed no uptake of contrast in the bile ducts and gallbladder, which is suggestive of congenital biliary atresia. An intraoperative cholangiogram showed a definite diagnosis of biliary atresia, which was performed, and the Kasai procedure was done successfully. All his family members were healthy with no history of congenital disease.The essential outcome in this case is to consider biliary atresia as a cause of prolonged jaundice in infants, and occasionally it is associated with other congenital anomalies. The diagnosis and treatment should be urgent in order to prevent complications.

Karakteristik Malformasi Anorektal di Rs. Bhayangkara dan RSIA Sitti Khadijah 1 Makassar Tahun 2017 – 2022

Anorectal malformation (MAR) is considered as one of the most common congenital intestinal anomalies with an incidence of 1 in 4000 - 5000 births. The purpose of this study was to determine the characteristics of anorectal malformations at Bhayangkara Hospital &amp; RSIA Sitti Khadijah 1 Makassar in 2017 – 2022. This research is a retrospective descriptive study with a cross sectional approach. This type of research was chosen because researchers wanted to find out about the characteristics of anorectal malformation cases at Bhayangkara Hospital &amp; RSIA Sitti Khadijah 1 Makassar in 2018 – 2022. This study involved 13 samples. Based on research that has been done, that the majority of anorectal malformation patients at Bhayangkara Hospital and RSIA Sitti Khadijah 1 Makassar are male (69.2%), have a history of maternal ANC frequency of 4 times (46.2%), and do not have history of the mother taking drugs during pregnancy (61.5%). It was also found that the average birth weight was 2,661 ± 787 grams, the gestational age was 38 ± 1.5 weeks, and the mother's age at delivery was 30 ± 6.7 years. The incidence of anorectal malformations in Makassar is still low. From the data obtained from the two studies, it was not too significant between the two hospitals, Rs. Bhayangkara and RSIA Sitti Khadijah 1 Makassar.

Additional Anomalies in Children with Gastroschisis and Omphalocele: A Retrospective Cohort Study.

Congenital abdominal wall defects might be associated with other anomalies, such as atresia in gastroschisis and cardiac anomalies in omphalocele patients. However, in the current literature, an overview of these additional anomalies and potential patient-specific risk factors is missing. Therefore, we aimed to assess the prevalence of associated anomalies and their patient-specific risk factors in patients with gastroschisis and omphalocele. A mono-center retrospective cohort study between 1997 and 2023 was performed. Outcomes were the presence of any additional anomalies. Risk factors were analyzed via logistic regression analysis. In total, 122 patients were included, of whom 82 (67.2%) had gastroschisis, and 40 (32.8%) had omphalocele. Additional anomalies were identified in 26 gastroschisis patients (31.7%) and in 27 omphalocele patients (67.5%). In patients with gastroschisis, intestinal anomalies were most identified (n = 13, 15.9%), whereas, in patients with omphalocele, cardiac anomalies were most identified (n = 15, 37.5%). Logistic regression showed that cardiac anomalies were associated with complex gastroschisis (OR: 8.5; CI-95%: 1.4-49.5). In patients with gastroschisis and omphalocele, intestinal and cardiac anomalies were most identified, respectively. Cardiac anomalies were found to be a risk factor for patients with complex gastroschisis. Therefore, regardless of the type of gastroschisis and/or omphalocele, postnatal cardiac screening remains important.

SMALL BOWEL OBSTRUCTION DUE TO MECKELS DIVERTICULUM: A CASE REPORT

Meckels diverticulum is the most common congenital anomaly of the small intestine. It results from incomplete obliteration of the vitelline duct leading to the formation of a true diverticulum of the small intestine which is usually located on the antimesenteric border of the ileum. This case report presents the diagnosis and management of a small bowel obstruction due to Meckels diverticulum in a 70-year-old patient. To identify the cause of the small bowel obstruction, The patient underwent computed tomography (CT) scan of her abdomen and pelvis which showed mild dilatation of the small bowels, particularly in the distal jejunum and proximal ileum with no transition point was seen on the CT scan. During the laparotomy, it was revealed a gross distension of the small bowel, and the distal portion of the ileum was markedly compressed by an internal hernia twisted around a giant Meckels diverticulum with a mesodiverticular artery in an area 50 cm from the tip of the ileum.

A female with recurrent gastrointestinal bleeding: an obscure diminutive lesion requiring a massive blood transfusion.

Obscure gastrointestinal bleeding (OGIB) is bleeding of unknown origin after a negative initial or primary colonoscopy and upper endoscopy result. Small bowel bleeding accounts for 5% of GI bleeding but it is the most prominent cause of OGIB. We present a case with an obscure diminutive polypoid vascular anomaly of small intestine. In this case, intraoperative enteroscopy seems to be the last trump card for OGIB, especially for large amount loss of blood. It not only helped to find the obscure cause for bleeding, but also preserved the small intestine.

Tranexamic Acid as a Successful Therapy in Turner Syndrome With Recurrent Overt Gastrointestinal Bleeding due to Small Intestinal Venous Anomalies

Small intestinal venous abnormalities are an underrecognized condition as an etiology of overt gastrointestinal (GI) bleeding in patients with Turner syndrome. Evidence-based therapeutic options for these lesions are lacking in the published literature. A 47-year-old woman with Turner syndrome with a 30-year course of recurrent GI bleeding was found to harbor diffuse small intestinal venous ectasias through endoscopic imaging. Achievement of a 21-month clinical remission (elimination of hospitalizations for overt GI bleeding and normalization of hemoglobin concentration) was reached after initiation of tranexamic acid titrated to 2,600 mg daily.

Small Bowel Volvulus Complicating Common Incomplete Mesentery in an Adult: A Case Report

The common incomplete mesentery is defined as an intestinal malrotation occurring very rarely in adults, this intestinal anomaly can lead to serious complications as the small bowel volvulus whom its diagnosis can be established in emergency,in patients with acute intestinal obstruction, or even shock, or repeated abdominal pain often. Clinical symptoms are dominated by abdominal pain and vomiting but nonspecific, diagnosis is confirmed by CT scan and surgery. We here report the case of a 75-year-old patient admitted with total small bowel volvulus complicating common incomplete mesentery, diagnosed based on abdominal computed tomography (CT) scan and confirmed at laparotomy.

Malrotation and Fibroblast Growth Factor Receptor-2-Associated Craniosynostosis: An Underrecognized Association and Management Pathway.

Feeding difficulties are common and multifactorial in children with Fibroblast Growth Factor Receptor-2 (FGFR-2) mutations. Intestinal rotation anomalies have been demonstrated to occur more frequently in animals with FGFR-2 mutations. This study aims to describe intestinal rotation anomalies, surgical management, and feeding assistance in children with FGFR-2 mutations who have undergone upper gastrointestinal (UGI) contrast studies. Retrospective data were collected of children born between 1988 and 2020 in a UK quaternary craniofacial unit with FGFR-2-associated craniosynostosis. A consultant survey of approach to malrotation was undertaken. Thirty-four children were included, 17 (50%) female. Six (18%) had UGI symptoms, which included bilious vomiting (n=2), nonbilious vomiting (n=5), retching (n=1), feed intolerance (n=3), and failure to thrive (n=3). Nine had a gastrostomy in situ. Intestinal rotation anomalies occurred in 4 (12%) children, 3 of whom underwent a Ladd procedure and two third required gastrojejunal feeding postoperatively. Consultants agreed that all children with FGFR-2 mutation and UGI symptoms should undergo UGI contrast study, as should children requiring a gastrostomy. Intestinal rotation anomalies in children with FGFR-2 mutations occur more frequently than the general population. Prompt consideration of UGI contrast in symptomatic children with FGFR-2 mutation is recommended to enable early surgical management of children with malrotation.

Multiple Intestinal Anomalies in a Newborn with 22q11.2 Microdeletion Syndrome: A Case Report and Literature Review.

Although 40 years have passed since the first case of DiGeorge's syndrome was described, and the knowledge about this disorder has steadily increased since that time, 22q11.2 deletion syndrome (DS) remains a challenging diagnosis because its clinical presentation varies widely. We describe an infant with 22q11.2 DS who presented with annular pancreas, anorectal malformation, Morgagni-type congenital diaphragmatic hernia, and ventricular septal defect. This constellation of anomalies has never been described in DiGeorge's syndrome. Here, we provide a case presentation and a thorough review of the literature.

The perinatal factors that influence the excretion of fecal calprotectin in premature-born children.

This study aimed to provide additional information on the influence of perinatal factors on fecal (f)-calprotectin values in preterm infants. Calprotectin was determined from the first spontaneous stool (analyzed on the Alegria device by using the enzyme-linked immunosorbent assay [ELISA] method) obtained from neonates at a mean age of 3.41 ± 2.44 days of life. We analyzed 114 subjects who had a body weight of 1847.67 ± 418.6 g and were born at a gestational age of 32.6 ± 2.43 weeks, without intestinal and other congenital anomalies or any diseases other than those related to premature birth. The values of f-calprotectin are in a positive correlation with female subjects, intrauterine growth restriction, significant ductus arteriosus, enteral feeding intolerance, postnatal prolonged use of broad-spectrum antibiotics, and values ​​of bicarbonates (analyzed in a sample of capillary arterial blood). Measurement of f-calprotectin in the first 7 days after birth can help to early detect the intestinal distress or early staging of necrotizing enterocolitis in premature infants.

Mobile Colon – A Developmental Anomaly of the Large Intestine

Introduction: Mobile Colon is a subtle developmental anomaly, which is due to the failure of the process of peritoneal zygosis. The incidence of this anomaly is estimated to be 10-15% of the population. Evidence Acquisition: During routine cadaveric dissection of the abdomen in the Department of Anatomy, collective anomalies of the caecum, ascending colon and descending colon were found. In these collective anomalies cecum, ascending and descending colon instead of normally being retroperitoneal were suspended from the posterior abdominal wall by a fold of peritoneum called the mesentery. Mobile colon is an uncommon anomaly, which is being reported here. Clinical Implications: Mobile colon is usually asymptomatic but whenever it becomes symptomatic, it leads to mobile colon syndrome. Clinical symptoms associated with mobile colon syndrome mimic other common gastrointestinal disorders such as inflammatory bowel disease, malignancy, appendicitis and volvulus. Complications of this syndrome include intestinal obstruction, torsion of the intestine and gangrenous bowel which needs immediate treatment. Conclusion: Mobile colon syndrome should be considered in the differential diagnosis of chronic abdominal pain of obscure cause. Laparoscopic colopexy and cecopexy are recommended as therapeutic and diagnostic treatments.

Torsion of giant Meckel’s diverticulum causing acute small bowel obstruction

Meckel’s diverticulum occurs in 2% of the population and is the most common congenital anomaly of the small intestine. It is the only true diverticulum of the small intestine and occurs due to the persistence of a part of the vitello intestinal duct that does not undergo normal obliteration by the fifth to ninth week of gestation. Though the majority are clinically silent, there is a 4-6% lifetime risk of complications. Axial torsion is the rarest complication associated with Meckel’s diverticulum and its coexistence with intestinal obstruction is largely unheard of with reported cases being few and far between. Here we discuss one such case of axial torsion of a giant Meckel’s diverticulum associated with intestinal obstruction in an adult male.

Clinical Profile, Outcomes and Predictors of Mortality in Neonates Operated for Gastrointestinal Anomalies in a Tertiary Neonatal Care Unit- An Observational Study.

ABSTRACTBackground:Gastrointestinal (GI) malformations have varied short-term and long-term outcomes reported across various neonatal units in India.Methods:This descriptive study was done to study the clinical profile, outcomes and predictors of mortality in neonates operated for congenital GI malformations in a tertiary neonatal care unit in South India between years 2011 and 2020. Details were collected by retrospective review of the case sheets.Results:Total of 68 neonates were included with esophageal atresia (EA) in 10, infantile hypertrophic pyloric stenosis (IHPS) in 9, duodenal atresia (DA) in 10, ileal atresia in 8, jejunal atresia in 5, anorectal malformations (ARM) in 11, meconium ileus/peritonitis in 9, malrotation in 2, and Hirschsprung's disease (HD) in 4. Antenatal diagnosis was highest in DA (80%). Associated anomalies were maximum in EA (50%), the most common being vertebral, anal atresia, cardiac defects, tracheoesophageal fistula, renal and radial abnormalities, and limb abnormalities association (VACTERL). Overall mortality was 15%. IHPS, DA, Malrotation, HD and ARM had 100 % survival while ileal atresia had the least survival (38%). Gestational age <32 weeks (odds ratio [OR] 12.77 [1.96, 82.89]) and outborn babies (OR 5.55 [1.01, 30.33]) were significant predictors of mortality in babies operated for small intestinal anomalies. None of the surviving infants were moderately or severely underweight at follow-up.Conclusion:Overall survival of surgically correctable GI anomalies is good. Among the predictors for mortality, modifiable factors such as in-utero referral of antenatally diagnosed congenital anomalies need attention. One-fifth had associated anomalies highlighting the need to actively look for the same. Although these neonates are vulnerable for growth failure, they had optimal growth on follow-up possibly due to standardized total parenteral nutritional policy during neonatal intensive care unit stay.

Variability in the management of adhesive small bowel obstruction in children

BackgroundThis study assessed inter-hospital variability in operative-vs-nonoperative management of pediatric adhesive small bowel obstruction (ASBO). MethodsA multi-institutional retrospective study was performed examining patients 1–21 years-of-age presenting with ASBO from 2010 to 2019 utilizing the Pediatric Health Information System. Multivariable mixed-effects logistic regression was performed assessing inter-hospital variability in operative-vs-nonoperative management of ASBO. ResultsAmong 6410 pediatric ASBO admissions identified at 46 hospitals, 3,239 (50.5%) underwent surgery during that admission. The hospital-specific rate of surgery ranged from 35.3% (95%CI: 28.5–42.6%) to 74.7% (66.3–81.6%) in the unadjusted model (p < 0.001), and from 35.1% (26.3–45.1%) to 73.9% (66.7–79.9%) in the adjusted model (p < 0.001). Factors associated with operative management for ASBO included admission to a surgical service (OR 2.8 [95%CI: 2.4–3.2], p < 0.001), congenital intestinal and/or rotational anomaly (OR 2.5 [2.1–3.1], p < 0.001), diagnostic workup including advanced abdominal imaging (OR 1.7 [1.5–1.9], p < 0.001), non-emergent admission status (OR 1.5 [1.3–1.8], p < 0.001), and increasing number of complex chronic comorbidities (OR 1.3 [1.2–1.4], p < 0.001). Factors associated with nonoperative management for ASBO included increased hospital-specific annual ASBO volume (OR 0.98 [95%CI: 0.97–0.99], p = 0.002), older age (OR 0.97 [0.96–0.98], p < 0.001), public insurance (OR 0.87 [0.78–0.96], p = 0.008), and presence of coinciding non-intestinal congenital anomalies, neurologic/neuromuscular disease, and/or medical technology dependence (OR 0.57 [95%CI: 0.47–0.68], p < 0.001). ConclusionsRates of surgical intervention for ASBO vary significantly across tertiary children's hospitals in the United States. The variability was independent of patient and hospital characteristics and is likely due to practice variation. Level of evidenceIII

Triple presentation of acute appendicitis, Meckel's diverticulum, and hemorrhagic ovarian cyst: A rare case report and literature review.

Introduction and importanceWith 2% prevalence worldwide, Meckel's diverticulum is the most common congenital anomaly of the small intestine, which anatomically results from incomplete obliteration of the vitelline duct. It is usually difficult to differentiate clinically between acute appendicitis and Meckel's diverticulitis, thus in most clinical situations, it is asymptomatic and usually incidentally discovered intraoperatively. On the other hand, Acute appendicitis is one of the most common presentations in a surgical emergency with an 8.6% incidence in males and 6.7% in females. Triple presentation of acute appendicitis, Meckel's diverticulum, and a hemorrhagic ovarian cyst is a rare incidence in literature.Case presentation and clinical discussionA female patient 35 years old with no previous surgical history or known medical disease presented to our ER with right lower quadrant abdominal pain of one-day duration. On physical examination; there was right iliac fossa pain, tenderness, and rebound tenderness indicating acute appendicitis. Intraoperatively we operated appendectomy as usual through Gridiron incision. Upon opening of the parietal peritoneum, there was a hemorrhagic reaction with a catarrhal inflamed appendix. Ileal loops revealed a Meckel's diverticulum. With the peritoneal toilet, there was still a hemorrhagic reaction. Further exploration revealed a ruptured hemorrhagic ovarian cyst, which was managed using bipolar cautery and ligatures.ConclusionIn the operative management of acute appendicitis, we recommend proper assessment for both the right ovary and at least two feet of ileum proximal to the ileocecal valve to exclude any ovarian abnormalities or Meckel's diverticulum respectively especially if the appendix was normal or just was catarrhal inflamed.

Should all babies with oesophageal atresia have routine screening for midgut malrotation anomalies? A systematic review in search of evidence

Background/Purpose Oesophageal Atresia (OA) is associated with co-existent anomalies. There is a controversy of literature pertaining to the risk (s) of intestinal malrotation. In order to guide management we critically evaluate the incidence of IM anomalies in OA newborns.Design MEDLINE and EMBASE databases were searched using keywords “(O)Esophageal Atresia and Malrotation/Associated Abnormalities/Associated Anomalies”. Full texts of articles were screened if manuscripts exclusively reported patients with OA malrotation and/or associated anomalies. Larger case series (> 10patients) were included if abstract (s) showed that associated anomalies were systematically assessed. Full eligibility criteria required at least one case of malrotation in an OA index case. Data were collected on article type, number of patients and method (s) of diagnosis.Results 632 abstracts were screened of which 158 papers were analysed based on inclusion criteria-30 manuscripts documented the incidence (%) of malrotation. Incidence rate (s) were 0.5–13%. Malrotation was observed to have a higher incidence (10–44%) in OA babies with other gastrointestinal anomalies (VACTERL).Conclusion Newborns with OA appear to be at a higher risk (%) of having intestinal malrotation anomalies than healthy babies. Prospective studies are required to accurately quantify and define the ‘ true incidence ‘ of this association. Given the potential lethal consequences of midgut volvulus screening may be justified in OA babies. Consensus guidelines (DELPHI) exploring surgeons attitudes with regards management of ‘ asymptomatic malrotation ‘ disorders in OA newborns may further guide best practice.

Vólvulo de divertículo de Meckel gigante

El divertículo de Meckel es la anomalía congénita más común del intestino delgado, presente en aproximadamente el 2 % de la población. La mayoría de los casos son asintomáticos; sin embargo, pueden producirse complicaciones potencialmente graves. En estos casos puede haber importantes dificultades en su diagnóstico, por la presentación clínica similar a otros cuadros agudos abdominales. Presentamos el caso de un hombre de 75 años que se presentó con una peritonitis difusa aguda, al cual en el intraoperatorio se le diagnosticó un divertículo de Meckel complicado con volvulación y gangrena. Se realizó tratamiento quirúrgico, con resección en cuña del divertículo.