Intestinal Rotation Abnormalities Research Articles

Endoscopic fluoroscopy: A technique to diagnose disorders of intestinal rotation

Background: Intestinal malrotation with Ladds bands is the most common cause of congenital extrinsic duodenal obstruction and the gold-standard for diagnosis is Upper Gastrointestinal series (UGI). However, a subset of patients presents with symptoms of chronic partial duodenal obstruction despite normal UGI. A novel technique, termed Endoscopic Fluoroscopy (EF), for the diagnosis of Occult Intestinal Rotational Abnormalities (OIRA) may assist this patient population in obtaining an accurate diagnosis and subsequent treatment plan.

A Prospective Management Strategy for Heterotaxy Syndrome with Intestinal Rotation Abnormalities: Imaging Does Not Predict Need for Surgery

PurposeHeterotaxy syndrome (HS) affects right-left anatomical development in 3% of children with congenital heart disease. Commonly, these patients have intestinal rotation abnormalities (IRA) that differ from typical malrotation. In this prospective study, we examine the development of a management pathway, imaging findings, and clinical course of patients with HS and IRA. MethodsAfter literature review, a multispecialty focus group designed a pathway for HS. Participants from a single institution were prospectively enrolled from 2016 to 2019. They underwent an abdominal ultrasound and UGI, however timing was variable based on symptoms. Symptomatic IRA was defined as feeding intolerance, bilious or non-bilious vomiting, bloating, severe reflux, and intermittent pain or abdominal distention. Screening for symptoms occurred every three months for the first two years and then annually. Results18 participants were followed for a median of 5.0 years. Three clinical categories were identified: 1) asymptomatic, not requiring intestinal surgery, 72.2%, 2) symptomatic with feeding intolerance or failure to thrive requiring gastrostomy placement and diagnostic laparoscopy with Ladd procedure, 16.7%, and 3) symptomatic requiring urgent exploration for suspicion of volvulus, 11.1%. Need for surgery did not necessarily correlate with US and/or UGI findings. ConclusionsIn children with HS and IRA, postnatal imaging did not inform the need for intestinal surgery. Although rare, volvulus or other forms of proximal obstruction can be anticipated, and symptomatic patients should be offered surgical intervention. A multidisciplinary care pathway for patients with HS and IRA can coordinate care and help counsel families on the likelihood of needing intestinal surgery for IRA. Level of EvidenceLevel II. Type of StudyProspective Cohort Study.

Diagnosis and management of intestinal rotational abnormalities with or without volvulus in the pediatric population

Intestinal malrotation is a congenital anomaly that can be associated with midgut volvulus, requiring an emergent operation in order to maintain blood supply to the compromised intestine. It results from an abnormal rotation of the intestines, leading to three types of malrotation. Non-rotation is complete failure of the intestines to rotate, while the most common configuration is associated with the cecum in the mid-upper abdomen, close to a malpositioned duodenal-jejunal (DJ) flexure. This configuration has a narrow mesentery that has a high risk of volvulus. The final form of malrotation is incomplete rotation, where the DJ flexure and cecum are malpositioned, but the mesentery is not narrowed. The benefits of performing a Ladd's procedure for these individuals is controversial.Workup for malrotation should be considered in all patients who present with abdominal pain/distention and bilious emesis. An upper gastrointestinal contrast study is 93-100% sensitive and will show a corkscrew appearance when a volvulus is present. While the basic tenets of the Ladd's procedure have not changed and include detorsion of a volvulus, adhesiolysis of Ladd's bands and broadening of the mesentery, how this is accomplished and in whom are controversial. Laparoscopic Ladd's is associated with shorter hospital stays but also has a higher incidence of recurrent volvulus compared to an open approach. Patients with heterotaxy syndrome also represent a controversial group with some studies showing no difference in post-operative complications despite a higher mortality due to underlying cardiac disease, while other studies show a low incidence of volvulus and question the need for Ladd's in those who are asymptomatic.This review highlights the major aspects of diagnosing and treating malrotation, including the pathophysiology, workup, surgical options and areas of controversy.

Heterotaxy syndrome: A rare case report

Heterotaxy syndrome is a spectrum of abnormalities that should be differentiated from situs inversus. Multiple spleens are the most common malformation seen in this syndrome. Intestinal rotation abnormalities should always be looked for, because of the risk of midgut volvulus that can be prevented by a correction procedure. We report the case of a 43-year-old patient with heterotaxy syndrome.

Malrotation in Congenital Diaphragmatic Hernia: Is It Really a Problem?

Congenital diaphragmatic hernia (CDH) has been associated with other congenital malformations, such as intestinal rotation abnormalities. However, there is no standard evaluation and treatment of intestinal rotation during initial CDH repair. This study evaluates intestinal malrotation in CDH patients. All patients with a CDH treated in a high-volume center between 2000 and 2015 were retrospectively evaluated. Demographics, gastrointestinal characteristics, surgical treatment, and abdominal outcomes (acute surgery, small bowel obstruction, and volvulus) were described. A total of 197 CDH patients were surgically repaired. In 76 (39%) patients, a malrotation was described at initial CDH repair, in 39 (20%) patients, a normal rotation, but 82 patients (42%) had no report on intestinal rotation. During follow-up (range: 2-16 years), 12 additional malrotations were diagnosed, leading to a prevalence of at least 45% (n = 88). These were mostly diagnosed due to acute small bowel obstruction, of which three had a volvulus. Of the 12 later diagnosed malrotations, 58% required acute surgery, compared to 3% of the 76 initially diagnosed patients (p < 0.001). Malrotation is associated with CDH, with a prevalence of at least 45% and in 21% a normal intestinal rotation. "Missed" malrotations have a higher risk on need for acute surgery later in life.

Heterotaxy Syndrome and Intestinal Rotation Abnormalities.

Infants with heterotaxy syndrome (HS) have abnormal lateralization of organs along the right-left body axis. Intestinal rotation abnormalities (IRAs) are a potential source of morbidity and mortality. For this study, our objective was to prospectively observe a cohort of infants with HS and determine the incidence and natural history of IRA. Infants ≤6 months of age with HS were enrolled in this prospective observational study. Exclusion criteria were other congenital abnormalities that necessitated abdominal surgery. HS was defined as any arrangement of organs that was not situs solitus or situs inversus along with associated congenital heart disease. The investigation for IRA was at the discretion of each participating center. Infants were recruited from January 2012 to December 2016. Thirty-eight infants from 7 institutions were included; 22 infants had right isomerism and 16 infants had left isomerism. Twenty-nine infants (76%) were evaluated for IRAs; 21 of 29 evaluations (72%) were abnormal. Eight infants were investigated because of symptoms, and 21 infants were evaluated routinely. The median age at symptom presentation was 46 days (range: 5-171 days). Seven infants had a Ladd procedure; 4 were prophylactic, with 3 as part of a combined procedure, and 3 were emergent. No child suffered acute midgut volvulus over a median follow-up of 1.6 years (range: 0.06-4.93 years). IRAs are common in infants with HS. Infants with symptoms presented by 6 months of age. There was no failure of expectant management resulting in midgut volvulus during a median follow-up of 1.6 years.

Preemptive Ladd Procedure in congenital diaphragmatic hernia and Abdominal Wall defects does not reduce the risk of future volvulus

IntroductionPatients with congenital diaphragmatic hernia (CDH), gastroschisis, and omphalocele are prone to abnormalities of intestinal rotation and thus future midgut volvulus. Controversy exists whether routine preemptive Ladd procedure in this subgroup of asymptomatic patients is of value to reduce future volvulus. MethodsThe Pediatric Health Information System (PHIS) database was queried for neonates with CDH, gastroschisis, and omphalocele between January 2009 and September 2015. Standard univariate and multivariate analysis was completed to compare risk of volvulus between patients treated with a preemptive Ladd versus no Ladd (p<0.05). ResultsSeven thousand seven hundred forty-nine neonates with CDH (40%), gastroschisis (38%), omphalocele (14%), and abdominal wall malformation (NOS) (9%) were identified. Overall, 3.6% (n=279) had a preemptive. Thirty-two patients had subsequent volvulus. Ladd procedure did not reduce volvulus readmissions for any diagnosis and was associated with a significantly increased risk of volvulus for omphalocele patients (9.1% vs 0.1%, p<0.001). Overall, a Ladd procedure during the index admission was associated with a higher risk for volvulus (1.4% vs. 0.4%, p=0.021) and was associated with a 3.28 increased odds ratio of future volvulus (95% CI 1.12–9.68). ConclusionLadd procedure performed prophylactically in patients with CDH, gastroschisis, and omphalocele did not reduce subsequent volvulus. Level of evidenceIII, Retrospective Comparative Study.

Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus

BackgroundHaploinsufficiency of the GATA6 transcription factor gene was recently found to be the most common cause of pancreatic agenesis, a rare cause of neonatal diabetes mellitus. Although most cases are de novo, we describe three siblings with inherited GATA6 haploinsufficiency and the rare finding of parental mosaicism.Case PresentationThe proband was born at term with severe intrauterine growth restriction, the first child of non-consanguineous parents. Diabetes occurred on day of life 1 with pancreatic exocrine insufficiency noted at several months of age. Pancreatic agenesis with absent gallbladder was confirmed when he underwent congenital diaphragmatic hernia and intestinal malrotation repair. A patent ductus arteriosus and pulmonary stenosis were repaired in infancy. Neurocognitive development has been normal. A second pregnancy was terminated due to tetralogy of Fallot and pulmonary hypoplasia secondary to congenital diaphragmatic hernia. The fetus also demonstrated severe pancreatic hypoplasia, gallbladder agenesis and intestinal rotation abnormalities. Despite severe hypoplasia, the pancreas demonstrated normal islet histology. Another sibling was found to have multiple cardiac abnormalities, requiring procedural intervention. Given the proband’s spectrum of congenital anomalies, Sanger sequencing of the GATA6 gene was performed, revealing a novel heterozygous c.635_660del frameshift mutation (p.Pro212fs). The mutation is predicted to be pathogenic, resulting in inclusion of a premature stop codon and likely degradation of the gene transcript by nonsense-mediated decay. The abortus and the sibling with the cardiac defect were both found to have the mutation, while the father and remaining sibling were negative. The mother, who is healthy with no evidence of diabetes or cardiac disease, is mosaic for the mutation at a level of 11% in her peripheral leukocytes by next-generation sequencing.ConclusionWe highlight a rare mechanism of pancreatic agenesis, this being only the second report of parental mosaicism for a GATA6 mutation and one of a handful of inherited cases. We also further define the phenotypic variability of GATA6 haploinsufficiency, even in individuals carrying the same mutation. Mutations in GATA6 should be strongly considered in cases of diabetes due to pancreatic hypoplasia or agenesis, and potentially affected family members should be tested regardless of phenotype.

Screening and Treatment of Intestinal Rotational Abnormalities in Heterotaxy: A Systematic Review and Meta-Analysis

To assess the role of screening and prophylactic surgery for intestinal rotational abnormalities (IRAs) in asymptomatic patients with heterotaxy. PubMed, Embase, and Cinahl were searched electronically to determine the overall incidence of IRAs in heterotaxy; the detection rate of IRAs associated with screening; the incidence of midgut volvulus in patients without screening; and the incidence of morbidity and mortality after prophylactic and emergency Ladd procedures. Relevant data were computed with a meta-analysis of proportions. Between-study heterogeneity was assessed with the I(2) statistic. From 276 papers identified, 24 studies with a total of 1433 patients with heterotaxy were included for systematic review. No randomized study was identified. True incidence of IRA in heterotaxy could not be ascertained through meta-analysis. In patients who underwent screening, the incidence of IRA was 58%. Acute midgut volvulus occurred in 5.8% of those who did not undergo screening. Postoperative mortality after Ladd procedure mainly was associated with cardiac insufficiency, and overall it was significantly greater in the emergency group compared with the prophylactic group (18% vs 5.6%). The complication rate also was greater in case of emergency vs prophylactic abdominal surgery (27% vs 16%); adhesional small bowel obstruction was the most common complication overall (6%). The screen-detected incidences of IRA and acute midgut volvulus were significantly greater in heterotaxy than the normal population. Prophylactic Ladd procedure was associated with less morbidity and mortality compared with emergency surgery. A long-term prospective randomized trial is needed to define the indication for screening and prophylactic treatment of IRA in heterotaxy.

Current surgical management of intestinal rotational abnormalities.

At present, there is a debate as to the management of malrotation in pediatric patients. This review highlights recent literature including the role of laparoscopy, and the management of asymptomatic patients with and without congenital cardiac disease. Symptomatic patients are still recommended to undergo open Ladd's procedure. Laparoscopic Ladd's procedure in asymptomatic patients confers a shorter time to tolerating feeds, shorter length of stay, and a decreased rate of bowel obstruction and other complications. It may, however, carry a higher risk of postoperative volvulus. Diagnostic laparoscopy is recommended in asymptomatic patients in whom the diagnosis is uncertain on upper gastrointestinal imaging. Asymptomatic patients with congenital heart disease may be managed with initial observation or operation, based upon individualized risk benefit assessment. If an elective Ladd's procedure is performed, it should take place after palliative cardiac operations have resulted in stable cardiac function. Screening upper gastrointestinal studies in heterotaxy patients may be unnecessary as the reported rates of volvulus in recent studies are low. Laparoscopic Ladd's procedure may be an acceptable alternative to an open procedure for asymptomatic patients. Observation of asymptomatic patients with congenital cardiac disease is a reasonable alternative in selected patients.

Chronic abdominal pain &amp; colonic non-fixation case report

Abnormalities of intestinal rotation and fixation occur in one out of 500 live births and usually present within the first month of life. We report a case of a 14-year-old girl with lifelong, chronic abdominal pain. Despite treatment by multiple specialists and psychiatrists, her pain remained severe. A barium enema revealed that her left colon was located along her right paracolic gutter, suggesting a form of malrotation/non-fixation. Laparoscopy, followed by laparotomy, demonstrated a complete lack of fixation of her entire colon. Due to the mobility of the colon, as well as its redundant mesentery, her entire small bowel was chronically trapped within the colonic mesentery. A subtotal colectomy was performed with a primary ileosigmoid anastomosis. Six months later, she remains pain-free for the first time in her life.

Heterotaxy syndrome and malrotation: Does isomerism influence risk and decision to treat

PurposeControversy remains regarding the management of the asymptomatic heterotaxy syndrome (HS) patient with suspected intestinal rotational abnormalities. We evaluated the outcomes for our HS population to identify frequency of malrotation and identify characteristics of children who might benefit from expectant management. MethodsAfter IRB approval, a retrospective review of all patients treated for HS at a large tertiary care children’s hospital between January 2008 and June 2012 was performed. For the purpose of this paper, malrotation was defined as an operative note that described the presence of Ladd’s bands and a narrow mesentery. ResultsThirty-eight patients with HS were identified, including 18 who underwent abdominal exploration. Left atrial isomerisation (LAI) was identified in 13 individuals, and right atrial isomerisation (RAI) was noted in 25. The rate of surgical intervention did not vary between the 2 groups (54%). Malrotation was found in 8 patients: one with LAI and 7 with RAI. This difference in incidence was statistically significant (p=0.04). ConclusionThese data suggest that the direction of atrial isomerisation influences the likelihood of true malrotation, where RAI patients are more likely to be malrotated. Given the inherent risk of surgery on this medically fragile patient population, surgeons should consider expectant management for asymptomatic LAI patients.

Heterotaxy syndrome and intestinal rotation abnormalities: A survey of institutional practice

PurposeAbnormalities of intestinal rotation (IRA) are commonly associated with heterotaxy syndrome (HS). There is controversy whether asymptomatic infants with HS require screening for IRA and if present, whether a prophylactic Ladd procedure is indicated. The objective of this study is to determine institutional practice across North America in the management of asymptomatic infants with HS and IRA. MethodsWe performed an international, multi-institutional web based survey to examine current practice and opinions in the management of IRA in HS patients. ResultsOverall response rate was 30%. Of physicians surveyed, 84% believe that HS patients should be screened for IRA in the neonatal period. 61% of general surgeons, 50% of cardiovascular surgeons and 45% of cardiologists feel that all patients with HS and an asymptomatic IRA should have a prophylactic Ladd procedure. 55% of physicians stated they would be comfortable with conservative management for patients with HS and asymptomatic IRA. ConclusionsThe risk of midgut volvulus, morbidity and mortality from elective procedures and cardiovascular prognosis must be considered prior to an elective Ladd procedure on asymptomatic HS patients. There are practice variance among sub-specialists caring for these patients, a lack of expert consensus, and a paucity of evidence-based data for IRA in this population.

Abnormalities of intestinal rotation and congenital intrinsic duodenal obstruction

Background Congenital duodenal obstruction (CDO) is a unique anomaly with variable presentation depending on the site, type of obstruction, as well as the presence of associated anomalies. This is a review of our experience with 51 infants and children with CDO, stressing on the importance of associated rotational abnormalities of the gut. Methods Over a period of 18 years (January 1993– December 2011), 51 infants and children with CDO were treated at our hospital. Their medical records were reviewed retrospectively for age at diagnosis, sex, gestation, birth weight, clinical features, associated anomalies, method of diagnosis, treatment, and outcome. Results Fifty-one (27 boys and 24 girls) infants and children with intrinsic CDO were treated. Their birth weight ranged from 1.38 to 3.8 kg (mean 2.3 kg). Sixteen (31.4%) were premature. The mean maternal age was 25 years (range 18–40 years). Seven presented at 5 months, 18 days, 3.5 years, 1.8 years, 18 days, 1.5 years, and 2 months of age, respectively. Associated anomalies were observed in 34 (66.7%) of them. Sixteen (31.4%) had Down’s syndrome and 11 (21.6%) had congenital heart disease. Nine (17.6%) had rotational abnormalities of the gut, including two with situs inversus. The site of duodenal obstruction was located in the second part of duodenum in 48 (94%) of them. In two, the site of obstruction was in the fourth part of duodenum, whereas in the third it was located in the third part of duodenum. The causes of obstruction were duodenal atresia in 20 (39.2%), without a gap in eight (15.7%) and with a gap in 12 (23.5%), duodenal stenosis in 11 (21.6%), and duodenal diaphragm in 20 (39.2%). In 14 (27.5%) patients, an annular pancreas was observed. The different operative procedures were as follows: duodenoduodenostomy in 26; excision of the duodenal diaphragm and duodenoplasty in 12; Ladd’s procedure, excision of the duodenal diaphragm, duodenoplasty, and appendectomy in four; Ladd’s procedure, appendectomy, and duodenoduodenostomy in two; and duodenojejunostomy in seven. Two underwent reduction duodenoplasty to decrease the size of the duodenum. Three required reoperations, two because of an anastomotic leak and another because of duodenal dysfunction. Sixteen (31.4%) required total parenteral nutrition. Four died, resulting in an overall survival of 92.2%. Conclusion CDO is classified as intrinsic and extrinsic depending on the cause. Rotational abnormalities including situs inversus are among the rare but interesting anomalies associated with intrinsic CDO. The presence of malrotation or nonrotation with congenital bands does not exclude the presence of an associated intrinsic cause, which should be looked for intraoperatively. This is to obviate the possibility of further subsequent operative treatment. Keywords : congenital duodenal obstruction, duodenal diaphragm, malrotation, situs inversus

Intrauterine midgut volvulus without malrotation: Diagnosis from the ‘coffee bean sign’

Fetal midgut volvulus is quite rare, and most cases are associated with abnormalities of intestinal rotation or fixation. We report a case of midgut volvulus without malrotation, associated with a meconium pellet, during the gestation period. This 2.79 kg, 33-wk infant was born via a spontaneous vaginal delivery caused by preterm labor. Prenatal ultrasound showed dilated bowel loops with the appearance of a 'coffee bean sign'. This patient had an unusual presentation with a distended abdomen showing skin discoloration. An emergency laparotomy revealed a midgut volvulus and a twisted small bowel, caused by complicated meconium ileus. Such nonspecific prenatal radiological signs and a low index of suspicion of a volvulus during gestation might delay appropriate surgical management and result in ischemic necrosis of the bowel. Preterm labor, specific prenatal sonographic findings (for example, the coffee bean sign) and bluish discoloration of the abdominal wall could suggest intrauterine midgut volvulus requiring prompt surgical intervention.

Outcomes after a Ladd procedure for intestinal malrotation with heterotaxia

Purpose Intestinal rotation abnormalities and complex congenital heart disease associated with heterotaxia coexist. Despite the risk for midgut volvulus, performing a Ladd procedure for asymptomatic malrotation with heterotaxia remains to be controversial because the presumed risk for postoperative complications is thought to exceed the benefits of the operation. The purpose of this study was to review the incidence of complications after a Ladd procedure in asymptomatic patients with heterotaxia to guide recommendations for this patient population. Methods The medical records of all patients with heterotaxia who underwent a Ladd procedure for asymptomatic malrotation between 1984 and 2004 were reviewed. Type of cardiac disease, postoperative complications, and survival were recorded. Results Twenty-two patients (9 boys and 13 girls) with heterotaxia underwent an elective Ladd procedure after their medical stabilization or surgical correction or palliation of their cardiac anomaly. Of these patients, 19 were younger than 1 month at the time of the operation. The remaining 3 patients underwent the operation when they were between 2 and 5 months old. Three of the 22 patients (14%) developed postoperative intestinal obstruction: lysis of adhesions was performed in 1 patient; another patient required a staged bowel resection for a closed loop obstruction; and yet another patient had recurrent midgut volvulus 4 years after an incomplete initial Ladd procedure. All patients survived the initial and secondary procedures. Four deaths, all more than 1 month after the surgery, occurred as sequelae of the underlying cardiac anomaly. Length of follow-up ranged from 1 to 17 years. Conclusions We report on a 14% risk of postoperative bowel obstruction after an elective Ladd procedure, as compared with a small but significant incidence of midgut volvulus in patients with malrotation in the setting of complex congenital heart disease. Our results support the conclusion that an elective Ladd procedure at a time of relative cardiac stability for selected patients with heterotaxia has an acceptably low morbidity and should be considered to prevent midgut volvulus.

Abnormalities of Intestinal Rotation in Patients with Congenital Heart Disease and the Heterotaxy Syndrome

Abnormalities of intestinal rotation (AIR) are seen in association with congenital heart disease and heterotaxy syndrome. The prevalence of these abnormalities and recommendations for management are unclear. Our objective was to determine the prevalence of screening for AIR by elective imaging among our group and prophylactic vs. emergent surgical intervention for AIR in patients with congenital heart disease and heterotaxy syndrome. From October 1988 through October 2000, we identified 74 patients with congenital heart disease and heterotaxy syndrome, 44 (59%) asplenia, 30 (41%) polysplenia. Abdominal imaging was performed in 34 patients (45%). Twenty-four (32%) were found to have AIR. Of 34 patients imaged, 22 (65%) were found to have AIR. Two patients not imaged were found to have AIR: one at autopsy, and the other, incidentally during other abdominal surgery. Because imaging was performed based on individual cardiologist's practice style that did not change over the period of the study and rarely secondary to symptoms, it is likely that the prevalence of AIR in the patients that were not electively imaged would be similar. There was no statistical difference in the presence of AIR between asplenic (34%[15/44]) and polysplenic (30%[9/30]) patients. Of the 22 patients imaged with AIR, 18 underwent Ladd procedure. Five of 12 imaged patients without AIR were found to have other significant gastrointestinal pathologies requiring intervention including gastrostomy tube placement for reflux (3), duodenal web (1), and biliary atresia (1). Of the 40 patients who were not pre-emptively imaged, none suffered acute obstruction solely secondary to AIR. However, in 2 patients intestinal obstruction was suspected and subsequently discovered by imaging and/or laparotomy due to other intestinal anomalies. AIR is common among patients with heterotaxy syndrome and congenital heart disease. We recommend that patients with congenital heart disease and heterotaxy syndrome have routine elective abdominal imaging of their gastrointestinal tract at birth as part of their evaluation.

Heterotaxia syndromes and their abdominal manifestations

Children with heterotaxia often have abnormalities of intestinal rotation, some of which may predispose to midgut volvulus. This review summarizes the literature and proposes an individualized approach to the patient based on symptoms and findings on gastrointestinal imaging. This report reviews the types of heterotaxia syndromes and the debate surrounding the optimal management of the associated intestinal rotational abnormalities. Recent publications suggest that not all rotational abnormalities predispose to volvulus and that the natural history of rotational abnormalities in asymptomatic patients with heterotaxia is relatively benign. On the basis of these findings, an algorithm for the management of intestinal rotational abnormalities is proposed. Malrotation and midgut volvulus is a life-threatening complication. Children with heterotaxia and symptoms suggestive of a proximal intestinal obstruction require urgent investigation and surgical treatment. Asymptomatic children require close clinical follow-up and urgent investigation of gastrointestinal symptoms.

Gastroesophageal Reflux in Infancy and Childhood

GER is a common reason for pediatric office visits and referrals to a pediatric gastroenterologist. This condition frequently is benign, and it is self-limited in most infants. Although a thorough history and complete physical examination usually are adequate to diagnose GER, a high index of suspicion must be maintained for other diagnoses associated with recurrent emesis, including metabolic disorders, as well as for other gastrointestinal conditions, such as pyloric stenosis and abnormalities of intestinal rotation. Behavioral or lifestyle modification usually can be implemented empirically to diagnose and manage a suspected case of uncomplicated GER. When this fails, medical therapy can be initiated, employing either a step-up or step-down approach with a PPI or H2RA. With the proven efficacy of PPIs and their availability to children, medical treatment has become the mainstay of therapy in severely affected patients; nevertheless, anti-reflux surgery is still widely performed in children with GER. Pediatricians and other primary care providers often manage infants and children who have gastrointestinal complaints, prior to referral to a pediatric gastroenterologist. Hence, they have the responsibility to educate children and families about GER, its natural history, complications, and therapeutic options. A careful history and physical examination, informed use of diagnostic studies, and a consistent approach to medical treatment are important principles that are required to guarantee the success of GER management in infants and children.

Heterotaxia syndrome: the role of screening for intestinal rotation abnormalities

Background: Heterotaxia syndrome involves multiple anomalies, including cardiac malformations and intestinal rotation abnormalities. Most authors recommend routine radiological evaluation, with laparotomy and Ladd procedure if a rotation abnormality is found....