Performance of Prenatal Ultrasound Screening for the Relative Positioning of Mesenteric Vessels.

OBJECTIVES: Abnormal relative positioning of the superior mesenteric artery (SMA) and vein (SMV) can lead to intestinal malrotation that predisposes to midgut volvulus. The aim of this study was to assess the prenatal ultrasound ability to visualize the relative position of SMA and SMV in normal pregnancies. METHODS: Prospective cohort study performed in Montpellier University Hospital Centre, including 80 fetuses during routine 3rd trimester ultrasound scan. For each fetus included, the relative position of the vessels on an axial image was defined as SMV on the right, forward, or on the left of SMA. Doppler imaging was additionally used if necessary. Data were compared to the neonatal abdominal scans performed by pediatric radiologist. RESULTS: The superior mesenteric vessels were identified in 79 fetuses. Prenatal findings showed a usual relative position of the vessels, that is, the vein on the right of the artery, in 96.2%. In 2 cases, the vein was strictly in front of the artery, and in 1 case, the vein was on the left side of the artery. Seventy-four neonates were examined and comparison with prenatal finding showed a perfect agreement (Kappa coefficient of 100%). An intestinal malrotation was postnatally diagnosed corresponding to the case where vein was on the left side of the artery. CONCLUSION: This study showed that the relative position of the SMA and SMV could be assessed using ultrasound prenatal examination with a perfect agreement with postnatal findings. In case of abnormal vessels positioning more examinations should be promote including prenatal MRI and postnatal conventional radiologic examinations to confirm intestinal malrotation.

Upper gastrointestinal series in healthy neonates with bilious vomiting-is it still obvious? A retrospective observational study.

AIM: Demand for upper gastrointestinal contrast series (UGI) to investigate bilious vomiting (BV) has increased in recent years, mostly due to greater awareness of the need to rule out malrotation and midgut volvulus (MGV). We aimed to examine predictive value of clinical parameters in the management of healthy neonates presenting with BV and re-assess the role of UGI in their management. METHODS: A retrospective cohort study including medical, imaging and surgical data of neonates who underwent UGI due to BV. RESULTS: A total of 157 term neonates, eight neonates (5.1%) had confirmed surgical diagnosis of malrotation, five of them had malrotation with MGV, including two neonates who underwent extensive intestinal resection due to necrosis. Neonates with a combination of abnormal plain radiograph and abdominal distention had 10 times higher odds of malrotation diagnosis, adjusting for age at first BV (p = 0.017). Neonates with a combination of abnormal plain radiograph, abdominal distention and abdominal tenderness had 25 times higher odds of MGV (p = 0.002). CONCLUSION: This study reaffirms the role of UGI as the current main diagnostic tool for malrotation and MGV. Physical examination and plain radiograph findings can help but cannot substitute UGI study.

Appendectomy as part of Ladd's procedure: a systematic review and survey analysis.

BACKGROUND: Ladd's Procedure has been the surgical intervention of choice in the management of congenital intestinal malrotation for the past century. Historically, the procedure included performing an appendectomy to prevent future misdiagnosis of appendicitis, since the location of the appendix will be shifted to the left side of the abdomen. This study consists of two parts. A review of the available literature on appendectomy as part of Ladd's procedure and then a survey sent to pediatric surgeons about their approach (to remove the appendix or not) while performing a Ladd's procedure and the clinical reasoning behind their approach. METHODS: The study consists of 2 parts: (1) a systematic review was performed to extract articles that fulfill the inclusion criteria; (2) a short online survey was designed and sent by email to 168 pediatric surgeons. The questions in the survey were centered on whether a surgeon performs an appendectomy as part of the Ladd's procedure or not, as well as their reasoning behind either choice. RESULTS: The literature search yielded five articles, the data from the available literature are inconsistent with performing appendectomy as part of Ladd's procedure. The challenge of leaving the appendix in place has been briefly described with minimal to no focus on the clinical reasoning. The survey demonstrated that 102 responses were received (60% response rate). Ninety pediatric surgeons stated performing an appendectomy as part of the procedure (88%). Only 12% of pediatric surgeons are not performing appendectomy during Ladd's procedure. CONCLUSION: It is difficult to implement a modification in a successful procedure like Ladd's procedure. The majority of pediatric surgeons perform an appendectomy as part of its original description. This study has identified gaps in the literature pertaining to analyze the outcomes of performing Ladd's procedure without an appendectomy which should be explored in future research.

Predictive factors of bowel resection for midgut volvulus based on an analysis of bi-center experiences in southern Japan.

PURPOSE: Midgut volvulus is an urgent disease often occurring in neonates. This study clarified the clinical features of midgut volvulus and evaluated predictors to avoid bowel resection. METHODS: This bi-center retrospective study enrolled 48 patients who underwent surgery for intestinal malrotation between 2010 and 2022. Patients' background characteristics and preoperative imaging findings were reviewed. RESULTS: Midgut volvulus was recognized in 32 patients (66.7%), and 6 (12.5%) underwent bowel resection. Based on a receiver operating curve analysis of bowel resection, the cut-off value of the body weight at birth and at operation were 1984 g [area under the curve (AUC) 0.75, 95% confidence interval (CI) 0.52-0.99] and 2418 g (AUC 0.70, 95% CI 0.46-0.94), respectively. The cut-off value of intestinal torsion was 540° (AUC 0.76, 95% CI 0.57-0.95), and that of the time from the onset to the diagnosis was 12 h (AUC 0.85, 95% CI 0.72-0.98). For midgut volvulus with an intestinal torsion > 540°, the most sensitive preoperative imaging test was ultrasonography (75%) Patients with bloody stool tended to undergo bowel resection. CONCLUSIONS: Patients with a low body weight and bloody stool should be confirmed to have whirlpool sign by ultrasonography and scheduled for surgery as soon as possible.

Prenatal Detection of Vesico-Allantoic Cyst: Ultrasound and Autopsy Findings.

Introduction: The vesico-allantoic cyst is a communication between the fetal bladder and the allantois through a patent urachus.Case Report: We describe a 17-week of gestational age (WGA) fetus with a 40 x 30 mm vesico-allantoic cyst. At 19 WGA, ultrasound (US) detected bilateral dilatation of renal pelvis (5-6 mm), hydroureters, and hypospadias. Amniotic fluid, umbilical cord flow, and fetal biometry were regular. Due to uncertain prognosis, the parents opted for legal termination of pregnancy. Autopsy confirmed the prenatal findings, also revealing intestinal malrotation and Meckel's diverticulum.Discussion/Conclusion: Probably an initial urinary tract obstruction occurred, not yet affecting the amniotic fluid volume, but evident as pyelectasis. This case highlights the possibility that genito-urinary and intestinal anomalies may be found in association with the vesico-allantoic cyst.

Pancreaticobiliary maljunction and pancreas divisum accompanied with intestinal malrotation: a case report.

BACKGROUND: Pancreaticobiliary maljunction is a congenital anatomical abnorma l junction of the pancreatic duct and bile duct into a common channel outside the duodenal wall. Pancreas divisum is also a congenital anatomical abnormality characterized by unfused pancreatic ducts. Intestinal malrotation is caused by the failure of bowel rotation and fixation. We reported an optimal surgical intervention for the rare case of pancreaticobiliary maljunction and pancreas divisum accompanied intestinal malrotation. CASE PRESENTATION: A 2-year-old female presented with fever and jaundice. Abdominal ultrasound showed dilated common bile duct and intrahepatic bile ducts; MRCP showed pancreaticobiliary maljunction, pancreas divisum, and dilated biliary system; Abdominal contrast-enhanced CT showed a reversed relationship between the superior mesenteric artery and the superior mesenteric vein. An operation of laparoscopic resection of the extrahepatic bile duct, Roux-en-Y hepaticojejunostomy, and Ladd's procedure was performed after the inflammation of the biliary system was treated. The post-operative follow-up period was uneventful. CONCLUSIONS: The management of pancreas divisum can be conservative. We present an optimal pattern of Roux-en-Y hepaticojejunostomy to deal with pancreaticobiliary maljunction associated with intestinal malrotation.

Access to emergency paediatric surgery for testicular torsion or intestinal volvulus in New Zealand: A system perspective.

AIM: The risk of organ loss is increased in children with testicular torsion or intestinal volvulus if surgical management is not expedient. The current retrospective study aims to review the time-course from first symptom to 'knife to skin' in these conditions, to determine where delays occur and facilitate a systems approach to better manage these children. METHODS: One hundred consecutive paediatric cases of scrotal exploration for presumed testicular torsion, and 100 neonatal cases presenting with possible malrotation/volvulus were analysed to evaluate the exact time-course of events from admission to surgery. RESULTS: (i) Scrotal exploration: the median time from onset of symptoms to presentation was 12 h (interquartile range (IQR): 5-48 h). In children over 5 years of age, 36% (33/93) were transferred from an external district service area. (ii) Malrotation/volvulus: the median duration of symptoms prior to arrival/assessment was 12 h (IQR: 4-24 h). The median cumulative in-hospital time was over 6 h (368 min, IQR: 247-634 min). CONCLUSIONS: Time to presentation contributes significantly to testicular ischaemic time. This delay to timely surgical intervention is multi-factorial, and must be addressed at a public health level. Support and training in the management of testicular torsion should be provided to all adult surgeons/trainees that may care for these children. In general, this condition is best managed at the presenting hospital whenever appropriate expertise is available. Novel pathways that streamline care may improve efficiency at an institutional level. Addressing issues of access to specialised neonatal surgery is more vexed on account of the tyranny of distance, and the pre-requisite level of surgical expertise required.

Superior mesenteric vein absence with intestinal malrotation: a case report.

BACKGROUND: Congenital abnormalities are not very common and are even rarer when two or more are combined. Congenital malformation of the superior mesenteric vein may not affect normal development, or it may lead to moderate or even severe symptoms. In combination with intestinal malrotation, however, it may lead to the need for surgical intervention in the early years of life. CASE PRESENTATION: We present the case of a 22-year-old patient who had been diagnosed with iron deficiency anaemia at the age of two months. As a result of the absence of the proximal section of the superior mesenteric vein, the patient has always needed iron supplements and an occasional erythrocyte transfusion. This has resulted from the formation of collaterals throughout the small bowel, causing chronic blood loss with its clinical manifestation. Although, there are some congenital abnormalities of the superior mesenteric vein, the absence of the superior mesenteric vein is rare, and in this case the clinical course was quite severe. Therefore, we planned bypass surgery for this patient to reduce the duodenal collaterals and resolve the persistent anaemia caused by chronic blood loss from the duodenum. We successfully performed the surgery consisting of the formation of anastomosis between the large collateral vein from the distal end of the superior mesenteric vein and the anterior inferior pancreaticoduodenal vein. CONCLUSION: The purpose of this case report is to describe the rare anatomical malformation of the superior mesenteric vein accompanied by intestinal malrotation, with its potential clinical implications regarding symptoms, clinical presentation, and the impact on potential surgery planning.

Laparoscopic vs open Ladd's procedure for malrotation in neonates and infants: a propensity score matching analysis.

BACKGROUND: Laparoscopic Ladd's procedure for malrotation in children is still a controversial approach. Although some retrospective studies have compared the outcomes of the two types of procedure with inconsistency outcomes. Currently, there are few large-scale studies on laparoscopic treatment in malrotation with neonates and infants. We did a study based on propensity score matching to compare the effects of the two kinds of approach in neonates and infants. To investigate the therapeutic effect of laparoscopy and open Ladd's procedure by the propensity score-matching (PSM) to enhance the validity of the comparison. METHODS: A total series of 143 cases of intestinal malrotation without intestinal necrosis was included in the study during the 8 years from January 2012 to January 2020, including 68 cases of open Ladd's procedure and 75 cases of laparoscopic Ladd's procedure including five cases of transfer laparotomy. By a propensity score 1:1 matching, 62 patients were stratified for each group. RESULTS AND CONCLUSION: There was no significant difference in volvulus degree, weight and gender between the two groups (p > 0.05). Laparoscopic surgery took more time than open surgery (105.9 min vs 70.6 min, p < 0.05), but it had less hospital stay (12.4 days vs 14.6 days, p < 0.05) or less incision infection (0 vs 6, p < 0.05). There was no significant difference between the two groups at the time of first defecation, blood loss, time of full feeding and reoperation (p > 0.05). The cosmetic effect of laparoscopic surgery is better than that of open surgery. Laparoscopic Ladd's procedure is a safe approach. It can reduce the length of hospital stay and incision infection, but the operation time was extended, the other complications are similar compared with open procedure for intestinal malrotation in neonates and infants.

A Rare Case of Malrotation and Midgut Volvulus with Whirlpool Sign.

We report a rare case of midgut malrotation and volvulus with "whirlpool sign" in a new-born infant. The "whirlpool sign" is an imaging characteristic of midgut volvulus and has a high predicting value for volvulus. Malrotation or malrotation with volvulus can be effectively diagnosed based on these characteristics. Ultrasound diagnosis has the advantage of no radiation exposure. Color Doppler documenting the reversal or aberrant superior mesenteric vein/superior mesenteric artery axis is not only predictive but also diagnostic of malrotation of gut. The rapid and accurate diagnosis of volvulus by ultrasound helps to establish the diagnosis of malrotation in time and thus allows for urgent surgical intervention to avoid bowel necrosis.

The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort.

Osteopathia striata with cranial sclerosis (OSCS; OMIM# 300373) is a rare X-linked disorder caused by mutations of the AMER1 gene. OSCS is traditionally considered a skeletal dysplasia, characterized by cranial sclerosis and longitudinal striations in the long bone metaphyses. However, OSCS affects many body systems and varies significantly in phenotypic severity between individuals. This case series focuses on the phenotypic presentation and development of individuals with OSCS. We provide an account of 12 patients with OSCS, ranging from 5 months to 38 years of age. These patients were diagnosed with OSCS after genetic testing confirmed pathogenic mutations in AMER1. Patient consent was obtained for photos and participation. Data were collected regarding perinatal history, dysmorphic features, and review of systems. This case series documents common facial dysmorphology, as well as rare extraskeletal features of OSCS, including two patients with intestinal malrotation and two patients with pyloric stenosis. We share four apparently nonmosaic males with OSCS (one de novo and three maternal variants). We also provide a clinical update on a patient who was previously published by Chénier et al. (2012). American Journal of Medical Genetics Part A, 158, 2946-2952. More research is needed to investigate the links between genotype and phenotype and assess the long-term comorbidities and overall quality of life of individuals with OSCS.

A case of reversed intestinal rotation revealed by volvulus in adult: anatomo-radiological correlations.

We report a case of reversed rotation (RR) of the midgut, the rarest form of intestinal malrotation (IMR), revealed by a chronic volvulus, in a 42-year-old woman presenting with episodes of abdominal pain occurring after heavy meals. The complete preoperative diagnosis was obtained by contrast-enhanced computed tomography (CT). Classical signs of volvulus were associated with typical findings of RR comprising an unusual position of the third duodenum in front of the mesenteric vessels and a very unusual location of the transverse colon behind these vessels. Complete absence of fixation of the right colon allowed secondary volvulus. A detailed reminder of the embryology of IMR and RR is presented.

Asymptomatic left isomerism with preduodenal portal vein: computed tomography appearance.

Left isomerism (polysplenia), one of the two major variants of heterotaxia with right isomerism (asplenia), may be rarely diagnosed in adulthood. Most cases are nevertheless asymptomatic and incidentally detected during imaging or surgery performed for unrelated conditions. We hereby report a case of left isomerism fortuitously diagnosed in a 55-year-old man with unrelated tachy-cardiomyopathy. Thoraco-abdominal computed tomography revealed a typical preduodenal portal vein (PDPV) associated with a large series of other occult anatomic variations comprising: polysplenia, agenesis of both pancreatic body and tail, complete non-rotation of the bowel and finally azygous continuation of the inferior vena cava. Subtle but highly specific thoracic features of left isomerism were also found with a bilobed right lung and bilateral long hyparterial main bronchi. The features of adult left isomerism are remembered with special attention to the PDPV.

Gastrointestinal symptoms as an extended clinical feature of Pierson syndrome: a case report and review of the literature.

BACKGROUND: Pierson syndrome (PS) is a rare autosomal recessive disorder, characterized by congenital nephrotic syndrome and microcoria. Advances in renal replacement therapies have extended the lifespan of patients, whereas the full clinical spectrum of PS in infancy and beyond remains elusive. CASE PRESENTATION: We present the case of a 12-month-old boy with PS, manifesting as the bilateral microcoria and congenital nephrotic syndrome. He was born without asphyxia, and was neurologically intact from birth through the neonatal period. Generalized muscle weakness and hypotonia were recognized from 3 months of age. The infant showed recurrent vomiting at age 5 months of age, and was diagnosed with gastroesophageal reflux and intestinal malrotation. Despite the successful surgical treatment, vomiting persisted and led to severely impaired growth. Tulobuterol treatment was effective in reducing the frequency of vomiting. Targeted sequencing confirmed that he had a compound heterozygous mutation in LAMB2 (NM_002292.3: p.Arg550X and p.Glu1507X). A search of the relevant literature identified 19 patients with severe neuro-muscular phenotypes. Among these, only 8 survived the first 12 months of life, and one had feeding difficulty with similar gastrointestinal problems. CONCLUSIONS: This report demonstrated that severe neurological deficits and gastrointestinal dysfunction may emerge in PS patients after the first few months of life.

Primary midgut volvulus without intestinal malrotation in a young adult: a case report.

BACKGROUND: Midgut volvulus is a rare cause of acute abdomen characterized by a twisting of the entire small intestine around its mesenteric pedicle. It is a well-known complication of intestinal malrotation usually occurring in infants and young children. We report a rare case of a midgut volvulus without any underlying condition occurring in a young adult. CASE PRESENTATION: A 24-year-old male was admitted to our surgical department with symptoms and signs of small bowel obstruction. The abdominal computed tomography (CT) scan showed dilatation of the entire small intestine and a rotation of the mesentery. The patient underwent an urgent explorative laparoscopy with conversion to median laparotomy, revealing a midgut volvulus with marked intestinal ischemia. Mesenteric fixation was normal but the mesenteric pedicle was described as relatively narrow. The midgut volvulus was untwisted with subsequent recovery of the intestinal ischemia. RESULTS: The postoperative period was marked by prolonged ileus requiring nasogastric tube decompression that gradually resolved after 1 week. The patient was discharged on the tenth postoperative day. He had fully resumed his daily activities 1 month after surgery and had experienced no recurrent symptoms 6 months later. CONCLUSION: Primary midgut volvulus is an extremely rare condition that must be considered in all young adults presenting with intestinal obstruction without previous abdominal surgery. Early diagnosis and immediate surgical intervention are the key factors to a successful outcome.

Massive ascites and severe pulmonary hypoplasia in a premature infant with meconium peritonitis and congenital cytomegalovirus infection.

Background: Meconium peritonitis (MP) is an infrequent prenatal complication. Association between MP and pulmonary hypoplasia has never been reported. Case Report: A female infant with antenatally diagnosed MP and ascites was delivered at 36 gestational weeks. She died shortly after birth due to pulmonary insufficiency. Autopsy confirmed the presence of MP and ascites, and additionally revealed intestinal malrotation, volvulus, necrosis and perforation, and pulmonary hypoplasia. Congenital cytomegalovirus (CMV) infection was also noted. This was an unexpected finding as the mother was tested negative for CMV IgM at 26 gestational weeks after sonographic detection of fetal ascites. Conclusions: This is the first reported case of lethal pulmonary hypoplasia in a neonate with MP-associated ascites complicated by congenital CMV infection. This case illustrates that a negative maternal CMV IgM might not be sufficient to rule out congenital CMV, and that a concomitant infectious etiology should always be considered even when a primary cause for fetal ascites (e.g., MP in this case) is identified.

Standardized Approach to Intervention for Intestinal Malrotation in Single Ventricle Patients with Heterotaxy Syndrome: Impact on Interstage Attrition and Time to Superior Cavopulmonary Connection.

Heterotaxy syndrome (HS) is a significant determinant of outcome in single ventricle (SV) physiology. Attrition rate and time-related events associated with intestinal malrotation (IM) are, yet, to be determined. We sought to evaluate hospital and interstage outcomes in relation with operative intervention for IM (IMO). Twelve SV/HS patients, who underwent IMO, from January 2004 to December 2016, were studied. Early shunt failure, time to superior cavopulmonary connection (SCPC) and interstage attrition were assessed. Since September 2014, based on a comprehensive standardized protocol, IMO was performed at the time of hospitalization for stage-I palliation (S1P) irrespective of clinical manifestations. Patients were assigned to Group A (n = 8): expectant /symptoms-driven versus Group B (n = 4): protocol-driven. At S1P 7 had systemic-to-pulmonary shunt (SPS), 1 SPS with anomalous pulmonary venous return (APVR) repair (Group A) compared to 2 SPS, 1 SPS with APVR repair and 1 Norwood operation (Group B). Median duration from S1P to IMO was 82 days (range 57-336; Group A) compared to 14 days (range 11-31; Group B); p < 0.05. Median age at IMO was 87 days (range 8-345) [Group A: 99 days (range 68-345) vs Group B: 25 days (range 8-39)] (p < 0.05). Early SPS failure occurred in 25% (2 of 8) for Group A compared to none in Group B (p < 0.05). Hospital mortality following IMO was 25% [Group A: 37.5% (3 of 8) vs Group B: 0; p < 0.05]. Interstage survival was 67% [Group A: 50% (4 of 8) vs Group B: 100%; p < 0.05]. Time to SCPC following S1P was 186 days (range 169-218) for Group A compared to 118 days (range 97-161) (Group B); p < 0.05. Operative intervention for IM in SV/HS is associated with significant interstage attrition and might impact the time to SCPC. SPS is at risk for early failure after IMO. A comprehensive standardized concept can mitigate detrimental implications.

Reoperation after Ladd's procedure in the neonatal period.

AIM OF THE STUDY: To investigate (1) the indications for reoperation after neonatal Ladd's procedure, (2) the type of reoperation and (3) its outcome. METHODS: We reviewed all neonatal Ladd's procedures in our hospital from 2003 to 2017 and the outcomes of reoperation in these patients. MAIN RESULTS: 252 neonates had Ladd's procedure: 59 were laparoscopic (23.4%) and 193 open (76.6%). 15 (6.0%) required reoperation with no difference between laparoscopic and open (p = 0.12). Overall, the indications for reoperation were: adhesive intestinal obstruction (n = 10, 4.0%), recurrent midgut volvulus (n = 4, 1.6%), and missed diagnosis of associated anomaly (n = 1, 0.4%). The incidence of recurrent midgut volvulus was higher after laparoscopic Ladd's procedure (3/59; 5.1%) compared to open Ladd's procedure (1/193; 0.5%) (p = 0.04). Adhesive intestinal obstruction developed after both open (8/193, 4.1%) or laparoscopic Ladd's procedure (2/59, 3.3%). The duration of reoperation and the length of post-operative hospital stay were 63.4 ± 27.1 min and 10.1 ± 5.2 days, respectively. After reoperation, there were no post-operative complications. All children were well at follow-up (6 months-14 years). CONCLUSIONS: In neonates, laparoscopic Ladd's procedure compared to the open Ladd's procedure is associated with a significantly higher risk of recurrent volvulus. The risk of developing this potentially dangerous complication after laparoscopic Ladd's procedure raises doubts about the effectiveness and safety of the laparoscopic approach in neonates.

The identification and treatment of intestinal malrotation in older children.

PURPOSE: Intestinal malrotation is often diagnosed in infancy. The true incidence of malrotation outside of this age is unknown. These patients can present atypically or be asymptomatic and diagnosed incidentally. We evaluate the incidence, clinical presentation, ideal imaging, and intra-operative findings of patients with malrotation over 1 year of age. METHODS: Retrospective review was conducted in patients older than 1 year, treated for malrotation at a single pediatric tertiary care center from 2000 to 2015. Data analyzed included demographics, presentation, imaging, intraoperative findings, and follow-up. Patients predisposed to malrotation were excluded. RESULTS: 246 patients were diagnosed with malrotation, of which 77 patients were older than 1 year of age. The most common presenting symptoms were vomiting (68%) and abdominal pain (57%). The most common method of diagnosis was UGI (61%). In 88%, the UGI revealed malrotation. 73 of 75 were confirmed to have malrotation at surgery. Intra-operatively, 60% were found to have a malrotated intestinal orientation and 33% with a non-rotated orientation. Obstruction was present in 22% with 12% having volvulus. Of those with follow-up, 58% reported alleviation of symptoms. CONCLUSION: Despite age malrotation should be on the differential given a variable clinical presentation. UGI should be conducted to allow for prompt diagnosis and surgical intervention.