Purpose: Few studies have reported non-acute long-term morbidity rates in children with intestinal malrotation. The aim of this study was to investigate the rate of constipation in children undergoing Ladd's procedure for isolated intestinal malrotation. Methods: This retrospective study included children aged <15 years who underwent Ladd's procedure for intestinal malrotation between 2001 and 2016. Demographics, presence of volvulus perioperatively, need for bowel resection, short term (<30 days) and long-term complications, including mortality were recorded. Constipation was defined as treatment with laxatives at 1-year follow-up. Results: Of the 43 children included in the study, 49% were boys. The median age at surgery was 28 days (0-5, 293 days). Volvulus occurred in 26 children (60.5%), and bowel resection was required in 4 children (9.3%). Short-term complications categorized as grades II-V according to the Clavien-Dindo classification occurred in 13 children (30.2%). Of these, 5 children (11.6%) required re-operation. Constipation was observed in 9 children (23.7%) at the 1-year follow-up. No difference was observed in the rate of perioperative volvulus between children with and without constipation (44% vs. 65%, p=0.45). Excluding re-operations performed within 30 days after surgery, 3 children (6%) underwent surgery for intestinal obstruction during the study period. Conclusion: Many children undergoing Ladd's procedure require bowel management even at long-term follow-up, probably secondary to constipation. It is important to thoroughly evaluate bowel function at the time of follow-up to verify or exclude constipation, and if treatment of constipation is unsuccessful, these children require evaluation for dysmotility disorders and/or intestinal neuronal dysplasia. Copyrigh

Intestinal malrotation in adults is more common in chronic, insidious patterns, reported to be around 88% in the literature, with features ranging from intermittent abdominal pain and vomiting to food intolerance, malabsorption, and motility disorders. This clinical spectrum can be debilitating for the patient in terms of morbidity and mortality, especially in the context of acute presentation in the background of chronic features. We present a 26-year-old male with a history of over 10 hospital admissions since childhood with intermittent abdominal pain and vomiting labeled as cyclic vomiting syndrome. He was in distress regarding the chronicity of his symptoms and presented with an acute abdomen due to acute small bowel intestinal obstruction. He underwent diagnostic laparoscopy and reduction of internal hernia followed by exploratory laparotomy and division of Ladd’s band and realignment of bowel. Postoperatively, he recovered and recuperated well. Intestinal malrotation should be in the routine differential diagnosis of acute abdomen, especially with the history of nonspecific abdominal symptomatology, so that diagnosis can be made early to prevent morbidity and mortality in this age group.

Complications of intestinal malrotation commonly manifest in the first months of life. However, cases of diagnosis in later age, including in adults, have been described. The clinical presentation is highly variable, and a significant amount of time often passes before the accurate diagnosis is made. This study presents a clinical case of a 17-year-old girl with chronic duodenal obstruction caused by isolated malrotation and fixation of the duodenum. Considering the patient’s comorbidities and developmental disorders, the diagnostic search was significantly challenging. In this situation, surgery involves mobilization of the duodenum and correction of the pathological fixation. However, considering the significant changes in the duodenal wall and the combined pathology, duodenojejunostomy was performed. Despite the additional surgical intervention, the postoperative period was characterized by prolonged gastric–duodenal stasis. Adequate diet, frequent feeding with a mixture, maximal “verticalization,” and activation of the patient played a key role in alleviating anastomositis and motor disturbances after the operation. Thus, using a strictly individualized approach to treat adolescents with a complex of surgical and therapeutic pathology and psychiatric disorders results in a satisfactory treatment outcome.

Small bowel malrotation is a congenital disorder of midgut rotation usually encountered in paediatric age group. Here is a case report of small bowel sub-acute obstruction due to midgut volvulus precipitated by malrotation. The incidence of microtonal presentation in adults is 0.2%, making this case a rarity. This patient presented with chronic vague symptoms like dyspepsia, diffuse low-grade abdominal pain, non-projectile vomiting which were on and off for 4 to 5 years since he presented to us. Furthermore because of the remitting nature of his symptoms, these symptoms usually pointed out to a more benign ailment, so unless we do a more elaborate study like computed tomography, we might miss the diagnosis. This case report emphasis the wide range of presenting age for certain congenital disorders like malrotation of gut.

Intestinal malrotation is a congenital anomaly of the gastrointestinal tract that is most commonly diagnosed during the neonatal period. Delayed presentation beyond infancy is uncommon and may result in significant diagnostic challenges, particularly in children with complex genetic disorders. This case describes a 4-year-old girl with Edwards syndrome (Trisomy 18) whose atypical presentation of intestinal malrotation created a demanding clinical situation for the multidisciplinary healthcare team. The patient was admitted to the pediatric surgical department with coffee-ground vomiting and a one-week history of constipation. Due to severe developmental impairment and limited communication abilities associated with her genetic condition, the assessment of symptoms relied heavily on careful clinical observation. The nursing team played a crucial role in the diagnostic process through comprehensive assessment, including pain evaluation using the FLACC scale, continuous monitoring of vital signs, and detailed observation of the frequency and characteristics of emesis. These findings raised suspicion of a high-level intestinal obstruction and prompted further diagnostic investigations. Although the initial abdominal X-ray suggested a diaphragmatic hernia, surgical exploration revealed intestinal malrotation with volvulus consistent with Ladd’s syndrome. This case highlights the importance of advanced nursing assessment, clinical vigilance, and interdisciplinary collaboration in recognizing rare surgical emergencies and ensuring patient safety in children with significant communication barriers and complex healthcare needs.</jats:p

Enteric duplication cysts (EDCs) are rare congenital abnormalities of the digestive tract. They may occur with different clinical presentations—including acute intestinal obstruction, perforation or bleeding. The aim of this educational case report is to present the diagnostic and therapeutic process of a young male patient admitted for intestinal bleeding. The peculiarity of this case lies in the association between a rare pathology, EDC, and an equally unusual anatomical condition such as intestinal malrotation. A 27-year-old Italian Caucasian man was admitted with diarrhea and currant jelly stool. No gastrointestinal disorders or previous history of bleeding or chronic abdominal pain were reported. He denied habitual use of nonsteroidal anti-inflammatory drugs (NSAIDs), or other enterotoxic drugs. A small bowel CT scan showed a suspected acute enteritis. A more careful analysis revealed radiological signs of intestinal malrotation. An endoscopic video-capsule could not clearly identify the source of bleeding. The device-assisted enteroscopy revealed, at the mid-distal jejunal level, a double intestinal lumen with traces of digested blood material. The patient successfully underwent a surgical definitive treatment of the jejunal duplication cyst, and was soon discharged. The combination of multiple diagnostic tools, both radiological and endoscopic (entero-CT scan, small bowel video-capsule, and finally device-assisted enteroscopy), allowed for a multidisciplinary approach that led to the diagnosis of a rare small intestinal duplication cyst in a young male patient with congenital intestinal malrotation.

There are many causes of intestinal obstruction in the neonatal age. The most common types are mechanical and result from congenital malformations of the gastrointestinal tract. However, functional disorders also occur. In some cases, diagnosis can be made prenatally but in others manifestation occurs after birth. The aim of this article is to present the case of a newborn with intestinal obstruction characterized by microcolon, dilated small bowel and megacystis known as Megacystis- Microcolon-Intestinal Hypoperistalsis syndrome, a very rare cause of intestinal obstruction. So far, less than three hundred cases have been reported in the literature. The prognosis of this syndrome is generally poor with most affected children dying in the neonatal period or infancy. Intestinal obstruction is a serious and life threatening condition. It may be explained by gross anatomical, histological or other abnormalities affecting the gut of the fetus. 1 Differential diagnosis may also take into account various anatomical, histological, or other abnormalities that may result in the obstruction of gut. 1 The incidence of intestinal obstruction is estimated at about one in 1500 live births.2 The cause of obstruction can be extrinsic or intrinsic.3 Atresia is quite common in the anorectal region, while atresia of the stomach occurs rarely.4 Colonic atresia is a rare condition of bowel obstruction in neonates.5 Membranous or complete obstruction may be present in the small intestine and may affect multiple sites. Stenosis may result from extrinsic or intrinsic factors. 4 It arises from the failure of physiological rotation or fixation of the intestine in utero. Malrotation is one of the most serious cases, when there is incomplete rotation of the intestine into flexura duodenojejunalis or incomplete rotation of the caecum. Duodenal obstruction may also result when adhesion bands of Ladd straps down the second part of the duodenum.1 The second group of causes of bowel obstruction in the newborn consists of functional intestinal obstructions. It develops due to defects of bowel inervation and differentiation of ganglion cells.4 It includes small left colon syndrome or neuronal intestinal dysplasia type A and neuronal intestinal dysplasia type B.6

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

There are many causes of intestinal obstruction in the neonatal age. The most common types are mechanical and result from congenital malformations of the gastrointestinal tract. However, functional disorders also occur. In some cases, diagnosis can be made prenatally but in others manifestation occurs after birth. The aim of this article is to present the case of a newborn with intestinal obstruction characterized by microcolon, dilated small bowel and megacystis known as Megacystis-Microcolon-Intestinal Hypoperistalsis syndrome, a very rare cause of intestinal obstruction. So far, less than three hundred cases have been reported in the literature. The prognosis of this syndrome is generally poor with most affected children dying in the neonatal period or infancy. Intestinal obstruction is a serious and life threatening condition. It may be explained by gross anatomical, histological or other abnormalities affecting the gut of the fetus.&#160; Differential diagnosis may also take into account various anatomical, histological, or other abnormalities that may result in the obstruction of gut.&#160; The incidence of intestinal obstruction is estimated at about one in 1500 live births.2 The cause of obstruction can be extrinsic or intrinsic. Atresia is quite common in the anorectal region, while atresia of the stomach occurs rarely. Colonic atresia is a rare condition of bowel obstruction in neonates. Membranous or complete obstruction may be present in the small intestine and may affect multiple sites. Stenosis may result from extrinsic or intrinsic factors. It arises from the failure of physiological rotation or fixation of the intestine in utero. Malrotation is one of the most serious cases, when there is incomplete rotation of the intestine into flexura duodenojejunalis or incomplete rotation of the caecum. Duodenal obstruction may also result when adhesion bands of Ladd straps down the second part of the duodenum. The second group of causes of bowel obstruction in the newborn consists of functional intestinal obstructions. It develops due to defects of bowel inervation and differentiation of ganglion cells. It includes small left colon syndrome or neuronal intestinal dysplasia type A and neuronal intestinal dysplasia type B

This review focuses on the clinical presentation, diagnosis, preoperative stabilization and intraoperative management of infantile hypertrophic pyloric stenosis (IHPS) and neonatal gastrointestinal obstructions. IHPS poses medical emergency, which demands adequate preoperative optimization of the intravascular status and metabolic derangements before proceeding with surgery. In contrast, malrotation and volvulus require immediate surgical exploration under ongoing aggressive resuscitation in order to minimize further deterioration and preserve bowel length. Congenital anomalies, associated with disorders such as duodenal atresia, malrotation, volvulus, and anorectal malformations, warrant focused examinations to characterize the defect and severity of functional impairment, but they should not delay interventions for which time is a critical factor. This review contains 2 tables, and 41 references. Key words: neonatal, infantile pyloric stenosis, gastrointestinal, vomiting, metabolic, resuscitation, obstruction, malformation, apnea, rapid sequence.    

PTEN hamartoma syndrome (PTEN‐HS) is a rare syndrome including neurologic, neurodevelopmental, integumentary, endocrine, and gastrointestinal manifestations. Eosinophilic disorders of the gastrointestinal system are diverse group of disorders reported to be more common in PTEN‐HS. Our patient had malrotation and obstruction in infancy and subsequently developed macrocephaly and a lipoma. She presented at 4 years of age with both iron deficiency anemia and hypoalbuminemia from protein‐losing enteropathy. She went on to endoscopy, colonoscopy, and video capsule endoscopy showing gastric, small intestinal, and colonic polyps but with histology including both a mixed histologic characterization of the polyps as expected with PTEN‐HS, along with eosinophilic esophagitis, gastric, duodenal, colonic and polyp eosinophilia. She improved with enteral nutritional support and budesonide. Intestinal malrotation is a previously unrecognized feature of PTEN‐HS, in our patient protein‐losing enteropathy may have resulted from polyposis or eosinophilic gastrointestinal disorder. Albeit rare, PTEN‐HS represents an elusive differential diagnosis with a broad spectrum including gastrointestinal symptomatology. Our case report illustrates the overlap of clinical, endoscopic, and histologic findings that can complicate PTEN‐HS.

<b><i>Objective:</i></b> To report a case of intestinal malrotation predisposing to cecal volvulus following nonabdominal surgery in an adult. <b><i>Presentation and Intervention:</i></b> A 23-year-old male with known anorectal malformation developed a postoperative intestinal obstruction following percutaneous nephrolithotomy for left renal calculus. Computed tomography of the abdomen revealed a grossly dilated cecum (9 cm) with ileocecal junction on the left side and small bowel loops on the right side of the abdomen. The patient underwent emergency exploratory laparotomy and retroperitonealization cecopexy. Bowel functions were normal at the follow-ups. <b><i>Conclusion:</i></b> This case highlights the importance of suspecting cecal volvulus even following nonabdominal surgery in the presence of predisposing factors.

Abstract BACKGROUND/PURPOSE: Intestinal neuronal dysplasia (IND) is a complex alteration of the enteric nervous system (ENS) that may involve rectum, colon, or the whole intestine. This disorder is a frequent cause of intestinal dysmotility and pseudo-obstruction in the first 3 years of life. The aim of this study was to identify possible associations and correlations of IND with other gastrointestinal and nongastrointestinal anomalies. METHODS: From 1986 to 2000, 95 cases of IND type B without aganglionosis were diagnosed. Fifteen cases were diffuse IND, whereas the remaining 80 were rectocolonic neuronal dysplasia. The diagnosis was performed on rectal suction biopsy specimens taken 2 to 10 cm above the pectinate line. Acetylcholinesterase (AChE), lactic dehydrogenase (LDH), and NADPH-diaphorase (NADPH-d) histochemical techniques were performed on serial cryostatic sections. We used Schärli and Meier-Ruge criteria (1981) for the diagnosis of IND until 1992, when we adopted Borchard et al criteria (1991). A retrospective analysis of the clinical data was performed to identify IND-associated anomalies. RESULTS: These anomalies included anorectal malformations (9 cases), intestinal malrotation (8), megacystis (5), congenital short small bowel (4), hypertrophic pyloric stenosis (3), necrotizing enterocolitis (2), mental retardation (2), short stature (2), facial dysmorphism (2), Down syndrome (1), intestinal atresia (1), diffuse intestinal angiomatosis (1), histiocytosis (1), microvillus agenesia (1), and hearing loss (1). Overall, 43 associated anomalies were found in 29 IND cases (30.5%). Gastrointestinal anomalies accounted for 67.4% (29 of 43 anomalies) of associated disorders. The incidence of associated anomalies was higher in diffuse IND (80% of cases, 12 of 15) than in rectocolonic forms (21.2%, 17 of 80). CONCLUSIONS: Unlike Hirschsprung's disease, which is determined genetically, IND pathogenesis is unknown. The analysis of associated anomalies in IND population is an important clinical approach to investigate possible pathogenetic correlations. Two recessive syndromes were identified (3 families). The first was characterized by IND, intestinal malrotation, and congenital short bowel, the second by IND, short stature, mental retardation, and facial dysmorphism. In this study, gastrointestinal anomalies accounted for 67.4% of all associated disorders. These data suggest a strong correlation between IND and intestinal development. Abnormalities of the fetal ENS could determine the IND phenotype, which is likely to contribute to the pathogenesis of different intestinal malformations and in particular of anorectal and "rotation" anomalies

Introduction. During treatment of intussusception, the greatest difficulties occur when the disease is combined with other disorders and malformations.Materials and methods. Clinical observation on treatment in a child with bowel intussusception and malformation is presented. The course of the disease was rather difficult for exact diagnosis. Control of conservative disinvagination was inconclusive. During a surgery, a malrotation was detected. This affected the diagnostic and therapeutic tactics. The second component of obstruction represented by the abdominal adhesive process was also found and removed.Results. The conducted surgery allowed to confirm the effectiveness of the given conservative treatment, detect the concurrent pathology and remove the mechanical obstruction.Conclusion. The presented observation clearly demonstrates difficulties in exact diagnosis and control of conservative disinvaginaton when intestinal invagination is combined with congenital malrotation. As a result, the outcome of conservative disinvaginaton could be significantly controlled, commissure or the second component of invagination was removed and an exact diagnosis was made.

Intestinal malrotation is a rare congenital anomaly that originates from the failure of the normal rotation and fixation of the midgut during embryologic development. There are different types of Midgut Malrotation which includes non-rotation, incomplete rotation, reverse rotation, or anomalous fixation of the mesentery. Methods: We present a case of a 58-year-old woman with a BMI of 45.3 kg/m2. The patient underwent laparoscopic appendectomy 15 years ago and was diagnosed with a partial situs inversus. She has no other past medical conditions. Results: At the operation, four meters of small bowel were counted backward from the ileocaecal valve until the duodenum. We performed a one anastomosis gastric bypass with three meters of common limb and one meter of biliopancreatic limb, gastro-intestinal anastomosis made with a linear stapler, and the defect sutured with absorbable suture. Conclusion: One anastomosis gastric bypass is a feasible and safe alternative for morbidly obese patients with intestinal malrotation or multiple intestinal adhesions.

Gastrointestinal manometry has gained wide acceptance in the approach to patients with suspected enteric neuromuscular disorders. However, performing gastrointestinal manometry in these subjects without a previous exhaustive diagnostic evaluation is unjustified. Twelve children (median age: 7.0 years; range: 8 months-13 years), with clinical and x-ray features suggesting chronic intestinal pseudoobstruction, were referred to our unit for gastrointestinal manometry. The latter was performed with a perfused catheter for 5 hr in the fasting state and for 90 min after feeding. Data were compared with those recorded in eight age-matched controls. In all patients and controls, interdigestive motor complexes with propagated phases III were detected; a regular postprandial antroduodenal motor activity was also recorded. Patients and controls did not differ for fed antral and duodenal motility indexes, fed antroduodenal coordination, and length of duodenal phase III. Most of the patients showed short or prolonged bursts of nonpropagated activity in the fasting and/or fed states; in four cases fasting and/or fed sustained phasic activity was recorded. Manometric evidence of migrating motor complexes and postfeeding activity did not support the diagnosis of intestinal pseudoobstruction and suggested redirecting the diagnostic evaluation. Final diagnoses were: Munchausen syndrome-by-proxy (four cases), celiac disease (two cases), intestinal malrotation (two cases), Crohn's disease (two cases), multiple food intolerance (one case), and congenital chloride-losing diarrhea (one case). It is concluded that in children with suspected chronic intestinal pseudoobstruction manometric evidence of migrating motor complexes and fed motor activity excludes an enteric neuromuscular disorder and suggests a reassessment of the diagnostic work-up. Furthermore, if gastrointestinal manometry shows migrating motor complexes and postfeeding motor activity, qualitative abnormalities of the manometric tracings do not indicate an underlying enteric neuromuscular disorder and must not be overemphasized. Patients referred for gastrointestinal manometry should previously undergo an extensive diagnostic investigation to exclude disorders mimicking chronic intestinal pseudoobstruction

Necrotizing enterocolitis (NEC) is a major cause of morbidity and mortality in preterm infants, yet it remains one of the most challenging neonatal diagnoses to establish with certainty. No single clinical, laboratory, or radiographic finding is pathognomonic, and the modified Bell’s staging system is limited because features such as abdominal distension, bloody stools, pneumatosis intestinalis, and portal venous gas are common in preterm infants or are mimicked by other conditions. A wide range of disorders in preterm and term neonates can therefore resemble NEC, including spontaneous intestinal perforation, sepsis-associated ileus, dysmotility of prematurity, malrotation with or without volvulus, cow’s milk protein allergy, Hirschsprung-associated enterocolitis, cardiogenic colitis, viral enterocolitis, intussusception, neonatal appendicitis, meconium obstruction, incarcerated inguinal hernia, and food protein-induced enterocolitis syndrome. Misclassification of these mimics leads to over- and under-estimation of NEC incidence, contaminates outcome data, and may delay surgical intervention. This review summarizes the epidemiology, risk factors, pathophysiology, and distinguishing clinical, radiographic, and histopathological features of the common mimics of NEC, with particular emphasis on spontaneous intestinal perforation. We also highlight the inherent diagnostic challenges and future directions, including the need for reliable biomarkers and the evolving role of artificial intelligence.

Curry-Jones syndrome (CJS) is a pattern of malformation that includes craniosynostosis, pre-axial polysyndactyly, agenesis of the corpus callosum, cutaneous and gastrointestinal abnormalities. A recurrent, mosaic mutation of SMO (c.1234 C>T; p.Leu412Phe) causes CJS. This report describes the gastrointestinal and surgical findings in a baby with CJS who presented with abdominal obstruction and reviews the spectrum of gastrointestinal malformations in this rare disorder. A 41 week, 4165 gram, female presented with craniosynostosis, pre-axial polysyndactyly, and cutaneous findings consistent with a clinical diagnosis of CJS. The infant developed abdominal distension beginning on the second day of life. Surgical exploration revealed an intestinal malrotation for which she underwent a Ladd procedure. Multiple small nodules were found on the surface of the small and large bowel in addition to an apparent intestinal duplication that seemed to originate posterior to the pancreas. Histopathology of serosal nodules revealed bundles of smooth muscle with associated ganglion cells. Molecular analysis demonstrated the SMO c.1234 C>T mutation in varying amounts in affected skin (up to 35%) and intestinal hamartoma (26%). Gastrointestinal features including structural malformations, motility disorders, and upper GI bleeding are major causes of morbidity in CJS. Smooth muscle hamartomas are a recognized feature of children with CJS typically presenting with abdominal obstruction requiring surgical intervention. A somatic mutation in SMO likely accounts for the structural malformations and predisposition to form bowel hamartomas and myofibromas. The mutation burden in the involved tissues likely accounts for the variable manifestations