Malrotation Research Articles

Volvulus of the Small Intestine in adults with intestinal malrotation: case report

Introduction: The volvulus of the small intestine with intestinal malrotation is a rare disease when occuring in adults, though, a surgeon’s ignorance of this diagnosis can result in potentially fatal extensive small intestinal necrosis. Presentation of case: Here, we present the case of a 57years old woman admitted and operated for a volvulus of the small intestine with intestinal malrotation after radiographic and pre-operative confirmation, whom follow up was unmarked. Discussion: The usual mechanism of obstruction in the volvulus of the small intestine with intestinal malrotation is adhesive compression of the duodenum and volvulus of the small intestine, this condition is the result of an arrest in the normal counterclockwise rotation of the cecum from the left lower quadrant to the right upper quadrant. Pre-operative diagnosis not always an easy task but the abdominal CT-scan is with a great help mainly by identifying the "WHIRL-WIND" sign. The Ladd procedure, consisting of division of Ladd’s bands, widening of the mesentery, and incidental appendectomy, is considered the worldwide standard up til now. Conclusion: This condition is rare and can be diagnosed mainly by CT-scan, however,the surgical management worldwide standard is the Ladd's procedure which can be led by laparotomy or laparoscopy and results in great outcome.

Delayed Presentation of Malrotation: Case Series and Literature Review.

Intestinal malrotation is a congenital anomaly resulting from abnormal or incomplete rotation and fixation of the midgut during embryogenesis. It commonly presents in the neonatal period (75%) with sudden onset bilious vomiting and rarely beyond infancy (<10%). The aim of the study was to highlight the clinical features, radiological findings, and treatment outcomes of patients with malrotation presenting beyond infancy. Eleven consecutive cases of delayed presentation of malrotation presented over a period of 5 years (2017-2021). Data were analyzed retrospectively. Out of the 11 patients, four were female and seven were male. The age of patients ranged from 14 months to 18 years. Patients beyond infancy present usually with diffuse pain abdomen compared to neonates which present with sudden onset bilious vomiting and therefore difficult to diagnose. Five patients had associated abnormalities such as intussusception or nutcracker syndrome or mesenteric cyst or jejunal stricture or mesenteric lymphadenopathy along with malrotation. Patients underwent ultrasonography, upper gastrointestinal contrast study, and contrast-enhanced computed tomography abdomen to confirm the diagnosis. All patients underwent the Ladd procedure with four requiring resection anastomosis and one requiring excision of the mesenteric cyst. Eight out of eleven patients had favorable outcomes, two develop adhesive intestinal obstruction and required re-exploration, and one had persistent complaints of hematochezia. Malrotation beyond infancy is a rare diagnosis. Malrotation in older children is usually not suspected because of the wide range of symptoms. A high index of suspicion on ultrasound or computed tomography is required to demonstrate the reversal of superior mesenteric artery and superior mesenteric vein position and related conditions. Early intervention and treatment can prevent catastrophic events such as intestinal volvulus and intestinal ischemia in these patients.

A pain fired from brain: Abdominal Epilepsy

Introduction: Abdominal pain is a nonspecific symptom which can be caused by a constellation of pathologies. It can be related sometimes to pathologies that affect the brain and mind. Among pathological conditions that can cause paroxysmal gastrointestinal symptoms are porphyria, abdominal migraine, cyclical vomiting, intestinal malrotation and peritoneal bands. Among them, rare, but important to recognize is abdominal epilepsy. Abdominal epilepsy is more a diagnosis of exclusion, and it is considered to be part of the group of temporal lobe epilepsies, which usually occur in children. However rare, there is recorded documentation of its occurrence even in adults. Method: We present two adult case reports with abdominal symptoms who have undergone several investigations before the diagnosis. Results: In these patients the pellicular combination of the irregular paroxysm of abdominal pain, combined with symptoms involving the central nervous system and the exclusion of pathologies that can produce similar symptoms can guide the physician to the diagnosis of abdominal epilepsy. Discussion: It should be suspected abdominal epilepsy when we encounter unexplained and recurrent gastrointestinal symptoms such as severe paroxysmal pain, hunger, flatulence, nausea and sometimes diarrhea. Symptoms are associated with central nervous system symptoms such as lethargy, confusion or alteration of consciousness and are improved with antiepileptic therapy. This diagnosis is usually associated with electroencephalography changes. The symptoms are quite vague and for this reason, it is difficult to make a diagnosis. Keywords: abdominal epilepsy, unexplained abdominal pain, EEG, adults, antiepilepsy drug therapy, case report

An Infantile Left Amyand Hernia: Case Report and Review of Literature

The incidence of incarceration in pediatric inguinal hernia is between 12 to 17% especially during infancy. It may contain small gut, omentum, cecum, appendix, or ovary and uterine tube, and appendix could be incarcerated on the right side (82%) mostly. Hypermobility of cecum which is a triggering factor of Left-sided Amyand’s hernia and an explanation of De Garengeot hernia occurs in 10-20% of population. Herein, a 9-month-infant with a left-sided incarcerated inguinal hernia containing both cecum and appendix was successfully operated through a groin incision. A hypermobile cecum is accused of the left-sided incarcerated Amyand’s hernia. Preservation or removal of the appendix is controversial which depends on the infection or trauma of hernia contents but the definitive repair of hernia is mandatory. Postoperative imaging should be done for exclusion of the possible underlying anomalies as hypermobile cecum, abnormal intestinal rotation, or situs inversus.

Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene

BackgroundOsteopathia Striata with Cranial Sclerosis (OS-CS), also known as Horan-Beighton Syndrome, is a rare genetic disease; about 90 cases have been reported to date. It is associated with mutations (heterozygous for female subjects and hemizygous for males) of the AMER1 gene, located at Xq11.2, and shows an X-linked pattern of transmission. Typical clinical manifestations include macrocephaly, characteristic facial features (frontal bossing, epicanthal folds, hypertelorism, depressed nasal bridge, orofacial cleft, prominent jaw), hearing loss and developmental delay. Males usually present a more severe phenotype than females and rarely survive. Diagnostic suspicion is based on clinical signs, radiographic findings of cranial and long bones sclerosis and metaphyseal striations, subsequent genetic testing may confirm it.Case presentationHereby, we report on a female newborn with frontal and parietal bossing, narrow bitemporal diameter, dysplastic, low-set and posteriorly rotated ears, microretrognathia, cleft palate, and rhizomelic shortening of lower limbs. Postnatally, she manifested feeding intolerance with biliary vomiting and abdominal distension. Therefore, in the suspicion of bowel obstruction, she underwent surgery, which evidenced and corrected an intestinal malrotation. Limbs X-ray and skull computed tomography investigations did not show cranial sclerosis and/or metaphyseal striations. Array-CGH analysis revealed normal findings. Then, a target next generation sequencing (NGS) analysis, including the genes involved in skeletal dysplasias, was performed and revealed a de novo heterozygous nonsense mutation of the AMER1 gene. The patient was discharged at 2 months of age and included in a multidisciplinary follow-up. Aged 9 months, she now shows developmental and growth (except for relative macrocephaly) delay. The surgical correction of cleft palate has been planned.ConclusionsOur report shows the uncommon association of intestinal malrotation in a female newborn with OS-CS. It highlights that neonatologists have to consider such a diagnosis, even in absence of cranial sclerosis and long bones striations, as these usually appear over time. Other syndromes with cranial malformations and skeletal dysplasia must be included in the differential diagnosis. The phenotypic spectrum is wide and variable in both genders. Due to variable X-inactivation, females may also show a severe and early-onset clinical picture. Multidisciplinary management and careful, early and long-term follow-up should be offered to these patients, in order to promptly identify any associated morbidities and prevent possible complications or adverse outcomes.

Prenatal diagnosis of fetal midgut volvulus: a case report

BackgroundFetal midgut volvulus is an uncommon yet potentially life-threatening condition. Prenatal diagnosis may pose a challenge, due to the paucity of specific signs and symptoms. Timely prenatal diagnosis of this condition is imperative to prevent fetal mortality and morbidity.Case presentationWe present a rare case report of fetal midgut volvulus, malrotation, and intestinal obstruction at 32 weeks of gestation in a 31-year-old multigravida Indian patient who presented with decreased fetal movements. Fetal ultrasound revealed midgut volvulus with proximal bowel obstruction and polyhydramnios. The patient underwent emergency surgery, which revealed intestinal malrotation and confirmed the diagnosis of midgut volvulus. Untwisting of the volvulus was done followed by Ladd’s procedure. Follow-up postoperative ultrasound was unremarkable.ConclusionsDelay in the diagnosis of fetal midgut volvulus leads to poor fetal and maternal outcomes. Hence, it is vital for radiologists, sonologists, and obstetricians to be aware of this condition while performing fetal sonography. Prompt diagnosis and surgical intervention are vital to reduce the morbidity and mortality associated with this condition.

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.

Intestinal malrotation: case description and publication analysis

Intestinal malrotation is a rare congenital anatomical anomaly that results from an abnormal bowel rotation at 10–12 weeks of embryonic development. Clinical manifestations depend on age. In children, intestinal malrotation is manifested by a midgut volvulus (Ladd syndrome). In adults, the presence of intestinal malrotation increases the risk of acute intestinal obstruction. This article presents a case of asymptomatic intestinal malrotation in a 52-year-old female patient.

Neonatal versus postneonatal presentation of intestinal malrotation: A retrospective cross-sectional study in a tertiary care hospital at Hyderabad, India

Background: Malrotation commonly presents in neonates with bilious vomiting. It may also present in post neonatal age group with vague symptoms such as chronic abdominal pain, vomiting, and failure to thrive. These indistinct symptoms also result in delay of diagnosis. Aims and Objectives: This study is done with an objective to know whether age of presentation in malrotation determines morbidity and mortality. Materials and Methods: This is a retrospective study conducted in Gandhi medical college and Hospital, Hyderabad, from 2017 to 2020, based on the records of 50 patients who were diagnosed to have malrotation. The differences in clinical presentations, diagnosis, management, and outcomes were analyzed with respect to age. Results: Children who presented in neonatal period had classical symptoms (P&lt;0.00001) and early diagnosis (P&lt;0.0239). Children who presented later (&gt;1 month of age) had higher incidence of atypical symptoms (P&lt;0.00001) and delay in diagnosis (P&lt;0.0239) compared to neonatal age group. Plain X-ray abdomen is readily diagnostic in neonatal age group (P&lt;0.0004) and diagnosis was confirmed by contrast study, whereas in older children, plain abdomen X-ray findings were not always distinct and most of them needed contrast series to reach definitive diagnosis. The incidence of bowel gangrene and mortality was not statistically significant (P value of 1) between neonatal and post neonatal groups. Conclusion: In post neonatal age group, lack of classical presentation may lead to difficulty in diagnosing malrotation, but may not have significant difference in terms of morbidity and mortality. Considering malrotation early in differential diagnosis leads to timely intervention even in older age group children.

Subhepatic acute appendictits in a 10-year-old male child; typical presentation with atypical location: A case report.

Acute appendicitis, the most frequent emergency in digestive surgery, is a well-known pathology in children and young adults. Its diagnosis presents some difficulties in the elderly. Appendicitis taking place in the subhepatic space (i.e., subhepatic appendicitis) is largely not common, and it occurs as a result of intestinal malrotation and/or mal-descent of the cecum during embryonic development. In our case a 10 year old male child has presented in the emergency department of Pakistan Railway Hospital, with complaints of pain at the right iliac fossa, associated with nausea and three episodes of vomiting. The child also had decreased oral intake since developing the pain. On examination, the child had a pulkse rate of 100 beats per min and a blood pressure of 100/60mmHg. The abdomen was soft with marked tenderness at the right iliac fossa along with guarding in the lower abdomen. There was associated rebound tenderness and psoas sign was also positive. After optimization open appendectomy planned, The caecum was found to be reaching the lower border of the liver and upon mobilizing the caecum, the appendix was located in a sub-he patic retrocecal position (Image 1). The appendix was markedly inflamed and was tortuous in its course with adhesions attaching it to the wall of the caecum. It has been concluded that among 0.009 percent subhepatic acute appendicitis presentation our 10-year-old child was an addition but with typical symptoms of acute appendicitis.

Laparoscopic Ladd’s procedure: a case report and review of the literature on patient selection for an appropriate surgical approach

Intestinal malrotation is a rare condition which is managed surgically with the Ladd's procedure. We report a case of an adult male presenting with symptomatic intestinal malrotation which was successfully treated with a laparoscopic Ladd's procedure. While traditionally performed with a laparotomy, the case highlights the emerging evidence in the literature supporting the laparoscopic approach and explores factors affecting patient selection for an appropriate surgical approach.

Pitfalls and Traps in the Surgical Evaluation of Patients with Irritable Bowel Syndrome (IBS)

BackgroundIrritable bowel syndrome (IBS) is a complex disorder involving a variety of severe life-altering symptoms and yet-to-be-discovered biologic mechanisms. Patients with IBS are often referred to gastroenterologists who initiate a work-up to rule several potential confounding disease processes. This work-up often involves a consult with a general and/or vascular surgeon to determine if their IBS-like symptoms have an anatomic or surgical etiology. Potential concurrent problems may include the discovery of points or angulations at which gastrointestinal flow is impaired, median arcuate ligament syndrome/angulation, superior mesenteric syndrome/compression, the incidental finding of intestinal malrotation, and others. Once these diagnoses are entertained and/or documented in a patient’s chart, “anchoring” on the diagnosis can lead to the belief that their IBS-like symptoms are due to a well-defined, operatively treatable anatomic condition. MethodsIn this piece, we will breakdown the potential pitfalls in communicating, advising, and caring for patients with IBS-like symptoms presenting for surgical consultation. ResultsDiscussion points are offered with the goal of avoiding unnecessary operations even when faced with compelling anatomic evidence, a highly motivated patient, and a desperate and persuasive family. ConclusionPatients suffering from IBS presenting for surgical consultation with a defined anastomotic abnormality that may or may not be related to their symptoms represent a major challenge for surgeons. A multidisciplinary team approach can be useful to avoid unindicated surgery in these patients.

Laparoscopic management in an adult patient with intestinal obstruction secondary to congenital midgut malrotation: a case report and review of the literature

Intestinal malrotation is the failure of the fetal intestine to complete a 270-degree counter clockwise rotation around the superior mesenteric artery, resulting in positional and fixation abnormalities of the small and large intestine. Adult presentation is uncommon with an estimated incidence of 0.2 to 0.5%. There is no consensus on treatment in patients with asymptomatic intestinal malrotation in adults. The aim of this document was to report and review a case of intestinal malrotation conditioning intestinal obstruction in an adult patient with successful laparoscopic management. We conclude that laparoscopic resolution is feasible, reproducible and may ensure a faster recovery in a selected group of patients.

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.

Intestinal Malrotation with Midgut Volvulus Comorbidity with Bronchopneumonia: A Case Report

Background: Intestinal malrotation is a congenital anomaly resulting from abnormal rotation and fixation of an imperfect midgut during embryonic development. This study aims to describe the diagnosis and management of intestinal malrotation and its comorbid diseases in children.&#x0D; Case presentation: A boy, aged 9 months, was referred from a regional hospital with complaints of repeated vomiting accompanied by a distended stomach and no bowel movements for 4 days. Based on the birth history, the patient was born with vacuum assistance for the indication of prolonged phase II. The results of the physical examination showed that the patient was seriously ill, with compos mentis, pulse rate 130 x/minute, respiratory rate 34x/minute, blood pressure 90/60 mmHg, temperature 37.6ºC, 99% saturation with the help of O2 nasal canule 2L/minute. There are increased bowel sounds on abdominal examination. Blood examination showed an increase in leukocytes (10.850/mm3). The chest X-ray showed lateral bronchopneumonia, and the abdominal X-ray showed low-lying obstructive ileus. The patient was diagnosed with obstructive ileus due to volvulus, moderate dehydration, comorbid with bronchopneumonia, and global developmental delay.&#x0D; Conclusion: Management of intestinal malrotation with volvulus in this patient includes general improvement and rehydration, Ladd's procedure for definitive correction of the cause. Management of comorbid global developmental delay is carried out after the emergency is resolved.

Cecal Volvulus with Intestinal Malrotation: A Case Report

Cecal volvulus is a rare surgical emergency, it occurs when the caecum get entangled upon a mesenteric axis which can cause a decrease of the blood supply or complete or partial obstruction of the bowel lumen, the Intestinal malrotation is a rare etiology of the cecal volvulus occurring due to incomplete or faulty rotation and fixation of the gut during fetal life. In our case report the occurrence of these two anomalies together is found which a rare situation is. This is a report of a 35 year old man who presented with acute abdominal pain and intestinal obstruction. CT demonstrated a cecal volvulus complicated by colic perforation.

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Ultrasound “whirlpool sign” of small bowel volvulus

Small bowel volvulus is a real surgical emergency. Early diagnosis and prompt operation are essential to prevent gangrene in the small intestine, which is associated with high morbidity and mortality. This is a life-threatening complication of intestinal malrotations, which is defined by abnormal twisting of a loop of small bowel around the axis of its own mesentery during embryologic development [1]. Clinical signs are represented by the high neonatal obstruction syndrome. Imaging has an essential role in diagnosis. Abdominal X-Ray shows marked distension of the intestines concerning for acute obstruction, however it can further lead to missed or delayed diagnoses. The associated abdominal Doppler ultrasound confirm the diagnosis of volvulus by showing “whirlpool sign”. This sign corresponds to a clockwise wrapping of the superior mesenteric vein and the mesentery around the superior mesenteric artery.

Intestinal malrotation with concurrent duodenal duplication cyst in a 1-day-old infant

Congenital intestinal malrotation and duodenal duplication cysts are congenital anomalies that are present during the neonatal period. The presence of both in a single patient is exceedingly rare with limited similar case reports present in the literature. We present the case of a neonate diagnosed with a right-sided ovarian cyst in utero, who was later found to have a concurrent duodenal duplication cyst and intestinal malrotation. Treatment consisted of open Ladd's procedure, resection of duplication cyst, and primary duodenoduodenostomy. The report serves as a data point for this rare phenomenon as well as provides surgical options for similar cases.

Pitx2 patterns an accelerator-brake mechanical feedback through latent TGFβ to rotate the gut.

The vertebrate intestine forms by asymmetric gut rotation and elongation, and errors cause lethal obstructions in human infants. Rotation begins with tissue deformation of the dorsal mesentery, which is dependent on left-sided expression of the Paired-like transcription factor Pitx2. The conserved morphogen Nodal induces asymmetric Pitx2 to govern embryonic laterality, but organ-level regulation of Pitx2 during gut asymmetry remains unknown. We found Nodal to be dispensable for Pitx2 expression during mesentery deformation. Intestinal rotation instead required a mechanosensitive latent transforming growth factor-β (TGFβ), tuning a second wave of Pitx2 that induced reciprocal tissue stiffness in the left mesentery as mechanical feedback with the right side. This signaling regulator, an accelerator (right) and brake (left), combines biochemical and biomechanical inputs to break gut morphological symmetry and direct intestinal rotation.