[Developmental disorders of the gastrointestinal tract]. / Entwicklungsstörungen des Gastrointestinaltrakts.

BACKGROUND: Developmental disorders of the gastrointestinal tract comprise a broad spectrum of congenital malformations of different etiologies and locations from the mouth to the anus. METHODS: The authors present the most important malformations of the gastrointestinal tract on the basis of basic and current reviews. RESULTS: Gastrointestinal developmental disorders occur both sporadically and in connection with malformation syndromes. Symptoms are highly variable and range from postnatal emergencies to asymptomatic abnormalities, which may be incidental radiological findings. Prenatal ultrasound examinations can often identify gastrointestinal developmental disorders at an early stage. Here, fetal magnetic resonance imaging can be a useful addition to the diagnostic process. In the first few days of life, simple X­ray overview images, supplemented by images after the administration of contrast medium, are often sufficient. CONCLUSION: Many patients with a malformation of the gastrointestinal tract require lifelong medical care, so that not only pediatric radiologists need specific knowledge about this group of diseases.

Impact of Focused Abdominal Ultrasound Utilization on Outcomes for Children With Midgut Volvulus.

BACKGROUND: Ultrasound (US) is gaining acceptance for the evaluation of midgut volvulus in children. However, its impact on clinical outcomes is unknown. We aim to determine whether using US as a first-line modality changes imaging mobilization, time to surgery and re-feeding, length of stay, and frequency of bowel necrosis, short bowel syndrome, and death. METHODS: An IRB-approved retrospective cohort study was performed at a tertiary pediatric institution. Eighty children with surgically confirmed midgut volvulus from 2014 to 2021 were compared before and after implementation of US as first-line imaging and based on the modality used to diagnose midgut volvulus. RESULTS: Outcomes were not statistically different pre- versus post-implementation. Compared with patients who had UGI only, those who had US only or both had significantly quicker imaging mobilization (median: -33 min; 95% CI: -61.2, -4.8; p = 0.023 and median: -31 min; 95% CI: -58.5, -3.6; p = 0.028 respectively). Patients with US only were less likely to have bowel necrosis compared with those who had UGI only (9.1% versus 43.8%, p = 0.042). Patients who had US only or both were less likely to develop short bowel syndrome compared to UGI only (4.8% US only, 0% both, 40% UGI only; p = 0.027 for US only, p = 0.005 for both). CONCLUSIONS: No statistically significant change in outcomes was found after implementation of US as first-line imaging for midgut volvulus. However, patients diagnosed with US only or US in combination with UGI had quicker imaging mobilization and decreased frequency of bowel necrosis and short bowel syndrome. Findings suggest that US has potential to improve patient outcomes. LEVEL OF EVIDENCE: III.

Neonatal Intestinal Segmental Volvulus: What Are the Differences with Midgut Volvulus?

OBJECTIVE: Intestinal volvulus in the neonate is a surgical emergency caused by either midgut volvulus (MV) with intestinal malrotation or less commonly, by segmental volvulus (SV) without intestinal malrotation. The aim of our study was to investigate if MV and SV can be differentiated by clinical course, intraoperative findings, and postoperative outcomes. METHODS: Using a defined search strategy, two investigators independently identified all studies comparing MV and SV in neonates. PRISMA guidelines were followed, and a meta-analysis was performed using RevMan 5.3. RESULTS: Of 1,026 abstracts screened, 104 full-text articles were analyzed, and 3 comparative studies were selected (112 patients). There were no differences in gestational age (37 vs. 36 weeks), birth weight (2,989 vs. 2,712 g), and age at presentation (6.9 vs. 3.8 days). SV was more commonly associated with abnormal findings on fetal ultrasound (US; 65 vs. 11.6%; p < 0.00001). Preoperatively, SV was more commonly associated with abdominal distension (32 vs. 77%; p < 0.05), whereas MV with a whirlpool sign on ultrasound (57 vs. 3%; p < 0.01). Bilious vomiting had similar incidence in both (88 ± 4% vs. 50 ± 5%). Intraoperatively, SV had a higher incidence of intestinal atresia (2 vs. 19%; p < 0.05) and need for bowel resection (13 vs. 91%; p < 0.00001). There were no differences in postoperative complications (13% MV vs. 14% SV), short bowel syndrome (15% MV vs. 0% SV; data available only from one study), and mortality (12% MV vs. 2% SV). CONCLUSION: Our study highlights the paucity of studies on SV in neonates. Nonetheless, our meta-analysis clearly indicates that SV is an entity on its own with distinct clinical features and intraoperative findings that are different from MV. SV should be considered as one of the differential diagnoses in all term and preterm babies with bilious vomiting after MV was ruled out-especially if abnormal fetal US and abdominal distension is present.

Malrotación intestinal en el adulto: cirugía de Ladd laparoscópica / Intestinal Malrotation in Adults: laparoscopic Ladd's Surgery

Las malrotaciones por bandas de Ladd son un subtipo de anormalidades de la embriogénesis consistentes en prolongaciones fibrosas, producto de una fijación anómala del mesenterio. Se extienden desde el ciego mal rotado hacia el retroperitoneo, pudiendo producir compresión extrínseca del duodeno. En el 90% de los casos la presentación clínica tiene lugar dentro del primer año de vida como un cuadro agudo, en forma de oclusión duodenal o vólvulo de intestino delgado con la consecuente isquemia de este o hernia interna. En la edad adulta, las formas de presentación son menos específicas. Los métodos de referencia ("gold standard") utilizados para el diagnóstico son la seriada gastroduodenal y la tomografía computarizada. El tratamiento quirúrgico consiste en la cirugía de Ladd, cuyo abordaje convencional fue descripto en 1936 por William Ladd. Presentamos el caso de un paciente adulto con un cuadro oclusivo, causado por dicha anomalía, diagnosticado de forma oportuna y resuelto de manera segura por vía laparoscópica. (AU)

Ladd's band malrotations are a subtype of abnormalities of embryogenesis consisting of fibrous extensions, product of abnormal fixation of the mesentery, that goes from the poorly rotated cecum towards the retroperitoneum, which can cause extrinsic compression of the duodenum. In 90% of cases, the clinical presentation takes place within the first year of life, as an acute condition, like duodenal occlusion or small bowel volvulus with its consequent ischemia or internal hernia. In adulthood, the forms of presentation are less specific. The gold standard methods used for diagnosis are gastroduodenal series and computed tomography. Surgical treatment consists of Ladd's surgery, whose conventional approach was described in 1936 by William Ladd. We present ta case of an adult patient with an occlusive presentation, given by this anomaly, diagnosed in a timely manner and safely resolved by laparoscopic approach. (AU)

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.

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.

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

PURPOSE: Heterotaxy 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. METHODS: After 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. RESULTS: 18 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. CONCLUSIONS: In 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 EVIDENCE: Level II. TYPE OF STUDY: Prospective Cohort Study.

Ultrasound for Midgut Malrotation and Midgut Volvulus: AJR Expert Panel Narrative Review.

Midgut volvulus in association with malrotation is a pediatric surgical emergency. Prompt and accurate diagnosis is necessary to avoid bowel ischemia and necrosis, thereby reducing morbidity and mortality. Historically, the fluoroscopic upper gastrointestinal series has been the preferred imaging modality for the evaluation of both midgut malrotation and volvulus, although the use of ultrasound (US) is increasing. In this Narrative Review, we describe the findings of midgut malrotation and volvulus on US, including practical tips for acquisition and interpretation; discuss the advantages and challenges of both imaging modalities; and propose a path and safeguards for possible transition to the use of US as the first-line modality for diagnosis based on our experience in imaging children with midgut malrotation and volvulus.

Caecum volvulus as a late presentation of intestinal malrotation in an adult: a challenging diagnosis.

Intestinal malrotation is usually diagnosed in early childhood. It results from failure of the normal gut rotation during embryological development. We present a case of a 62-year-old woman with a delayed presentation of an intestinal malrotation. She was admitted in the emergency department with an acute intestinal obstruction. Exploratory laparotomy revealed Ladd's band with caecum volvulus and intestinal malrotation. Ladd's procedure and right hemicolectomy were performed with uneventful recovery. Since both caecum volvulus and intestinal malrotation are rare events, particularly in adulthood, clinical diagnosis is challenging. Our aim is to increase the awareness of surgeons about this rare association as a cause of acute intestinal obstruction.

Evaluation of ultrasonography in fetal intestinal malrotation with midgut volvulus.

OBJECTIVES: To investigate the clinical significance of prenatal diagnosis and prognostic evaluation of fetal intestinal malrotation with midgut volvulus via ultrasonography. MATERIAL AND METHODS: Ultrasonographic findings and clinical outcomes of fetal intestinal malrotation with midgut volvulus prenatally diagnosed via ultrasound at the Zhangzhou Hospital Affiliated of Fujian Medical University from January 2013 to May 2020 were summarised and analyzed. RESULTS: Eleven cases of fetal intestinal malrotation with midgut volvulus were accurately prenatally diagnosed according to the specific ultrasound signs, such as 'whirlpool sign' and 'twining sign'. Indirect and nonspecific ultrasonographic signs included ascites in four cases and echogenic bowel in nine, all of which were accompanied by intestinal dilatation at various degrees. Among all cases, two were complicated with other system abnormalities, and one had a chromosome abnormality. Three pregnant women chose termination of pregnancy, and eight neonates were transferred to the pediatric department for surgery after obtaining written informed consent. An accurate prenatal diagnosis was confirmed postoperatively, and the fetus recovered well postoperatively. CONCLUSION: S: : Fetal intestinal malrotation with midgut volvulus has typical sonographic features, and ultrasonography is the method of choice for prenatal diagnosis of this disease. Fetal intestinal malrotation with midgut volvulus is a non-fatal congenital malformation that can be treated. Prenatal diagnosis is essential for early postnatal treatment, and early surgery can often obtain good efficacy and prognosis.

Gastrointestinal duplication cysts: what a radiologist needs to know.

Gastrointestinal tract duplication cysts are rare congenital malformations which can be diagnosed as early as the prenatal period but are frequently found in infancy or incidentally in adulthood. They can be seen throughout the alimentary tract with the most common involving the distal ileum and second most common the esophagus. Many duplication cysts are asymptomatic and thus discovered as an incidental imaging finding, though they can also be symptomatic with an array of clinical presentations dependent largely on their location. The vast majority of duplication cysts are benign; however, there are rare instances of malignant transformation reported. The aim of this review is to show how multimodality imaging can help in the diagnosis of duplication cysts at various anatomical locations. Duplication cyst can become symptomatic and in rare cases undergo malignant transformation; therefore, they are typically managed with surgical excision, particularly if found prenatally or during infancy. Given the diversity of anatomic locations, multiple differential diagnoses, and the need for surgical intervention, it is valuable to comprehend the role of multimodality imaging role in diagnosing duplication cysts.

Duplicación intestinal aislada respecto al tractodigestivo: una entidad a tener en cuenta / Intestinal duplication isolated from the digestive tract: an entity to be considered

Objetivos: Revisión de las duplicaciones intestinales aisladas, sin conexión con el tracto digestivo.Material y métodos: Se recopilan los 27 casos de duplicación intestinal aislada publicados hasta el momento y se presenta un nuevo caso.Resultados: Las duplicaciones intestinales aisladas sin conexión con el tracto digestivo representan una variante de la malformaciónextremadamente rara. Este tipo de duplicaciones no están en contactoíntimo con ningún segmento del tracto intestinal y cuelgan de un pedículo vascular propio. Tienen menos tasa de diagnóstico prequirúrgico que las duplicaciones clásicas y a las posibles complicaciones hay que añadir la torsión de la malformación.Conclusiones: Es interesante conocer esta variante infrecuente paraconsiderarla en el diagnóstico diferencial. La posibilidad añadida de torsión debe tenerse en cuenta para decidir el momento de la cirugía enel paciente asintomático.

Objectives: To review intestinal duplications isolated from thedigestive tract.Materials and methods: Description of the 27 isolated intestinalduplication cases published; presentation of a new case.Results: Intestinal duplication isolated from the digestive tract represents an extremely rare malformation. This type of duplication is not in close contact with any segment of the intestinal tract, and it has its own vascular pedicle. Preoperative diagnosis rates are lower than those found in classic duplications. In addition to the potential complications,malformation torsion is also to be considered. Conclusions: This infrequent variant is to be considered at differential diagnosis. Potential torsion should also be taken into account inorder to decide when an asymptomatic patient should undergo surgery.

[A case of neonatal gastrointestinal duplication]. / Duplication digestive: à propos d´un cas néonatal.

Gastrointestinal duplications are defined as tubular or cystic malformations of a segment of the digestive tract, from the oral cavity to the anus. They are rare. Prenatal diagnosis ca be made in patients with a voluminous cyst. We here report the case of a 33-year-old primiparous woman with no previous medical-surgical history who was poorly screened. She just underwent ultrasound scan at 8 weeks of amenorrhea (WA). During the third trimester of pregnancy ultrasound showed anechoic nonvascularized cyst measuring 3cm located in the upper pelvis. It was anteriorly located; the kidneys and the bladder were not involved. Then magnetic resonance imaging (MRI) of the fetus was performed to better interpret ultrasound results. This showed well-defined cyst in contact with the small bowel loops along the mesenteric side. The diagnosis of gastrointestinal duplication was strongly suspected. C-section was done at 39 weeks' gestation because the woman had a history of primary infertility (7 years). Delivery proceeded without complications. Postnatal ultrasound results reinforced the hypothesis of gastrointestinal duplication, showing a cystic mass with a multi-bulkhead-like structure at the level of the left hypochondrium, measuring 45 mm x 19 mm, which could be consistent with gastrointestinal duplication. The new-born was referred to the Paediatric Surgery for better management and surgery in the first 6 months of life. The discovery of fetal anechoic cyst poses a challenge in etiology and diagnosis on the one hand and of follow-up and postnatal management on the other hand.