IMPOWER: a national patient-generated registry for intestinal malrotation exploring diagnosis, treatment, and surgical outcomes.

BACKGROUND: Intestinal malrotation is a rare congenital condition with potentially devastating consequences due to potential volvulus and massive intestinal necrosis. Diagnosis is often delayed and long-term symptoms following surgical correction are poorly characterized. We developed the Intestinal Malrotation Patient Outcomes and WEllness Registry (IMPOWER), a national patient-generated registry (PGR), to capture data related to presenting symptoms, testing, diagnosis, treatment, and follow-up of individuals diagnosed with malrotation. IMPOWER captures patient-reported information from adult patients and parents/caregivers of children diagnosed with malrotation at the time of enrollment and at ongoing 6-month intervals. We present baseline characteristics of patients enrolled during the first two months of the registry. RESULTS: Within the first two months, 354 patients with malrotation enrolled in IMPOWER, and 191 (53.9%) completed all baseline assessments. Nearly 90% of the 119 pediatric participants and 37.7% of the 72 adult participants experienced symptoms prior to diagnosis. Vomiting was the predominant symptom for pediatric participants compared to abdominal pain in adults. Yellow bilious emesis was more commonly reported than green, and volvulus at diagnosis occurred in 70% of pediatric and 27% of adult participants. One-third of pediatric participants had a bowel resection as part of their initial surgical procedure, resulting in 23.4% with diagnosed short bowel syndrome. More than 60% of pediatric and 80% of adult registrants reported gastrointestinal symptoms that persisted throughout the first year following their initial operation. Approximately 25% of registrants reported visiting four or more gastroenterologists for management of ongoing symptoms. CONCLUSIONS: Fewer than half of pediatric patients presented with the "classic" presentation of green bilious colored emesis. Yellow bilious emesis was more commonly reported, and chronic gastrointestinal symptoms (i.e., abdominal pain, reflux, constipation, diarrhea) and feeding intolerance were common following surgical procedures for malrotation. This novel PGR highlights the need for a multicenter prospective registry to characterize the natural history and develop consistent standards of care related to the diagnosis, treatment, and long-term care for patients with malrotation.

A fatal twist in childhood: A post-mortem finding of intestinal volvulus with malrotation.

Gastrointestinal pathology leading to the death in paediatric age group is uncommon. The diseases that encountered were mostly intestinal obstruction, peritonitis and gastrointestinal bleeding. Due to the severe symptoms, most of the patients presented to hospital in time and were treated appropriately. However, with the presence of contributing factors, certain gastrointestinal pathology can progress rapidly leading to the death. We report a rare case of intestinal volvulus in a 3 years old girl where the deceased presented with one day short history of vomiting before her demise. The contributing factors were bronchopneumonia sepsis and underlying intestinal malrotation identified via post-mortem examination.

Assessment of plasma microRNAs in congenital intestinal malrotation.

Intestinal malrotation in newborns often requires urgent surgical treatment, especially in the presence of volvulus. Therefore, early­stage diagnosis is critical. In the present study, differentially expressed plasma microRNAs (miRNAs) were screened for in patients with intestinal malrotation using high­throughput Illumina sequencing, and validated using reverse transcription­quantitative PCR. Receiver operating characteristic curve (ROC) analysis was conducted to evaluate their specificity, sensitivity and assess their diagnostic value for intestinal malrotation. Bioinformatics analysis was performed to investigate the functions associated with the dysregulated miRNAs. A profile consisting of 28 differentially expressed plasma miRNAs was obtained, of which nine were verified to exhibit significantly altered expression. According to a ROC analysis, four of these could represent novel early­stage, non­invasive biomarkers for intestinal malrotation. Bioinformatics analysis demonstrated that the differentially expressed miRNAs were predominantly involved in 'metal ion transmembrane transporter activity' and 'calcium­dependent protein binding', which may be related to the 'endocytosis' pathway. In conclusion, significantly differentially expressed plasma miRNAs were identified in congenital intestinal malrotation and their potential roles were described. These differentially expressed miRNAs may serve as biomarkers of intestinal malrotation and improve early diagnosis for this condition.

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

INTRODUCTION: 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. MATERIALS AND METHODS: 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. RESULTS: 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). CONCLUSION: 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.

Congenital intestinal malrotation presenting in octogenarians: a report of two cases.

Malrotation is part of a spectrum of small and large bowel positional and fixational abnormalities caused by the failure of the fetal intestine to complete a 270-degree rotation around the superior mesenteric artery axis. Rarely, it presents in the adult as a cause of acute small bowel obstruction. Chronic symptoms of malrotation in adults are subtle, and include intermittent abdominal pain, nausea and vomiting. We present two cases of malrotation in octogenarian men presenting acutely with small bowel obstruction. Both patients were treated with emergency surgery. In one case the chronic symptoms resolved postoperatively. Malrotation and midgut volvulus should be considered as a rare differential diagnosis for small bowel obstruction in adults. Suspicions should be increased when there is a history of recurrent presentations with similar symptoms.

In utero ileal volvulus and intestinal perforation associated with enteric duplication cyst presenting with preterm labour and acute abdomen in newborn.

Enteric duplication cysts are a rare cause of intestinal obstruction in the neonatal period. We present the unusual case of an in utero ileal volvulus secondary to an enteric duplication cyst causing an acute abdomen in a 35-week estimated gestational age newborn female delivered to a mother in preterm labour.

Adult with intestinal malrotation and colocolic intussusception: an unusual combo.

Intestinal malrotation is a congenital anomaly that results from an abnormality in the rotation and fixation of the gut as it returns to the abdominal cavity during development. Intussusception is a condition characterised by telescoping of one segment of the bowel into another segment. The combination of malrotation and intussusception is frequently a cause of intestinal obstruction in the paediatric age group. The coexistence of these two conditions is termed as Waugh syndrome and is uncommon in adults. We share our experience with an elderly woman who was admitted with diarrhoea and anaemia. Investigations revealed a large colonic polyp, colocolic intussusception and malrotation. The adenomatous polyp and mobile right colon would have lead to intussusception. The diagnosis was based on the findings of colonoscopy and contrast-enhanced CT scan of the abdomen. She was managed with a transverse colectomy with an uneventful recovery.

Transverse colon volvulus in a patient with sickle cell disease.

Although colonic volvulus is a relatively rare cause of large bowel obstruction, accounting for up to 5% of all cases of intestinal obstruction, transverse colon volvulus is extremely uncommon compared with volvulus of the sigmoid colon or caecum and is responsible for only 3% of all reported cases. We report an unusual case of spontaneous volvulus of the transverse colon in a young man with sickle cell disease who underwent resection with primary anastamosis. Having a high index of suspicion and early operative intervention allowed for this patient to have an uneventful postoperative course.

Intestinal obstruction with a twist: a rare case of congenital portal vein aneurysm causing intestinal obstruction.

Bilious vomiting is often a presenting feature of upper intestinal obstruction in newborn. We present a case of intestinal obstruction in a newborn baby caused by abnormal vascular band arising from portal vein aneurysm in association with a midgut volvulus. Congenital anomalies of portovenous system are very rare, and it usually presents with portal hypertension in late infancy or childhood. In this particular child, the portal vein aneurysm contributed to intestinal obstruction due to both a failure of intestinal rotation and a mechanical band over the transverse colon.

Novel variant of reversed midgut rotation - retro-arterial proximal jejunum and transverse colon: a case report and review of the literature.

BACKGROUND: Reversed rotation of the midgut is the rarest variation of midgut malrotations, which are congenital disorders that result from aberrant rotation and fixation of the midgut during embryological development. Common complications of these disorders are small bowel obstruction by volvulus or peritoneal bands, usually occurring in early infancy. CASE PRESENTATION: A 23-year-old Caucasian woman presented with recurrent abdominal pain. A contrast-enhanced multidetector computed tomography study revealed a novel variant of reversed rotation of the midgut. Besides the specific finding of a retro-arterial transverse colon, we also found the proximal jejunum to cross posterior to the mesenteric root, a variation that has not been reported in the literature so far. In this case, substantial symptomatic relief was achieved with conservative management. CONCLUSIONS: The hypothesis of a double reversed rotation of the pre-arterial segment of the umbilical loop around the superior mesenteric artery axis provides a possible explanation for this anomaly. There is no evidence-based consensus on the management of patients presenting with non-symptomatic or mildly symptomatic intestinal malrotations. In this case, radiologic and clinical presentations excluded acute small bowel obstruction, and surgical intervention was avoided.

Left-Sided Appendicitis in a 14-Year Girl with Midgut Malrotation.

We present a case of 14-year girl with left-sided acute appendicitis who presented with lower abdominal pain. Midgut malrotation occurs at a rate of 1 in 500 live births. The condition is incidentally diagnosed during various radiological investigations done for other purposes. However, such patients may present with conditions like acute appendicitis, which poses a diagnostic dilemma if a high index of suspicion is not kept. The purpose of this case report is to increase awareness in the emergency physicians and young surgeons of this rare presentation; and the importance of radiological investigations in the diagnosis of left-sided appendicitis, to decrease morbidity and mortality.

Mimics of malrotation on pediatric upper gastrointestinal series: a pictorial review.

Intestinal malrotation is a continuum of congenital anomalies due to lack of rotation or incomplete rotation of the fetal intestine around the superior mesenteric artery axis. The abnormal bowel fixation (by mesenteric bands) or absence of fixation of portions of the bowel increases the risk of bowel obstruction, acute or chronic volvulus, and bowel necrosis. The clinical presentation of patients with malrotation without, with intermittent, or with chronic volvulus can be problematic, with an important minority presenting late or having atypical or chronic symptoms, such as intermittent vomiting, abdominal pain, duodenal obstruction, or failure to thrive. The diagnosis is heavily reliant on imaging. Upper GI series remain the gold standard with the normal position of the duodenojejunal junction lateral to the left-sided pedicles of the vertebral body, at the level of the duodenal bulb on frontal views and posterior (retroperitoneal) on lateral views. However, a variety of conditions might influence the position of the duodenojejunal junction, potentially leading to a misdiagnosis of malrotation. Such conditions include improper technique, gastric over distension, splenomegaly, renal or retroperitoneal tumors, liver transplant, small bowel obstruction, the presence of properly or malpositioned enteric tubes, and scoliosis. All of these may cause the duodenojejunal junction to be displaced. We present a series of cases highlighting conditions that mimic malrotation without volvulus to increase the practicing radiologist awareness and help minimize interpretation errors.

[Malrotation with or without volvulus]. / Malrotatie met en zonder volvulus.

Malrotation occurs when there is a failure in the intestinal rotation leading to abnormal fixation to the abdominal wall and a mesentery with a short root. Volvulus is a life-threatening complication of malrotation. It can lead to irreversible intestinal necrosis and requires immediate attention. Early recognition of malrotation and surgical correction could prevent the onset of volvulus. We describe 3 cases of children with a malrotation. Case A involves a 2-year-old boy who suffered from repeated episodes of vomiting. Case B, a 1-month-old female, was taken to the general practitioner after acute onset of crying and flexing of the legs. Case C, a 5-year-old-boy with no medical history, had started vomiting hourly. In presenting these 3 cases, we highlight the dangers of untreated malrotation and make recommendations on how to manage a patient suspected of having this congenital abnormality.

Small bowel volvulus in the adult populace of the United States: results from a population-based study.

BACKGROUND: Small bowel volvulus is a rare entity in Western adults. Greater insight into epidemiology and outcomes may be gained from a national database inquiry. METHODS: The Nationwide Inpatient Sample (1998 to 2010), a 20% stratified sample of United States hospitals, was retrospectively reviewed for small bowel volvulus cases (International Classification of Diseases, 9th Edition [ICD-9] code 560.2 excluding gastric/colonic procedures) in patients greater than or equal to 18 years old. RESULTS: There were 2,065,599 hospitalizations for bowel obstruction (ICD-9 560.x). Of those, there were 20,680 (1.00%) small bowel volvulus cases; 169 were attributable to intestinal malrotation. Most cases presented emergently (89.24%) and operative management was employed more frequently than nonoperative (65.21% vs 34.79%, P < .0001). Predictors of mortality included age greater than 50 years, Charlson comorbidity index greater than or equal to 1, emergent admission, peritonitis, acute vascular insufficiency, coagulopathy, and nonoperative management (P < .0001). CONCLUSION: As the first population-based epidemiological study of small bowel volvulus, our findings provide a robust representation of this rare cause of small bowel obstruction in American adults.

Heterotaxy syndrome infants are at risk for early shunt failure after Ladd procedure.

BACKGROUND: Cardiac-specific risks and complications after a Ladd procedure in patients with heterotaxy syndrome (HS) and intestinal rotational anomalies (IRA) are unknown. We sought to (1) describe rates of hospital mortality and early systemic-to-pulmonary (S-P) artery shunt failure after the Ladd procedure in patients with HS and (2) explore risk factors associated with early shunt failure in patients with HS with single ventricle (SV). METHODS: This retrospective study included all Ladd procedures performed from January 1999 to December 2012 in patients with HS at a single center. Risk factors investigated for early S-P artery shunt failure included birth weight, gestational age, sex, age at and timing of Ladd procedure relative to cardiac operations, and shunt type. RESULTS: Ladd procedure was performed on 54 infants with HS and congenital heart disease. Hospital mortality for the entire cohort was 5.6% (3 of 54 patients). Early shunt failure occurred in 19% (4 of 21) of HS infants with SV. Mean preoperative blood urea nitrogen (BUN) levels were higher in HS infants with early shunt failure (20 versus 12.5 mg/dL; p = 0.054). CONCLUSIONS: Patients with SV and HS with S-P artery shunts are at risk for early shunt failure after a Ladd procedure. A higher mean preoperative BUN level is noted in patients with HS and early shunt failure. Careful risk-benefit analysis is indicated before recommending routine elective Ladd procedures in patients with HS.