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Hirschsprung's disease (HD) is a congenital structural abnormality of the colon seen in approximately 1 to 5000 live births. Despite surgical correction shortly after presentation, up to 60% of patients will express long-term gastrointestinal complaints, including potentially life-threatening Hirschsprung-associated enterocolitis (HAEC). In this study fecal samples from postoperative HD patients (n = 38) and their healthy siblings (n = 21) were analysed using high-resolution liquid chromatography-mass spectrometry aiming to further unravel the nature of the chronic gastrointestinal disturbances. Furthermore, within the patient group, we compared the faecal metabolome between patients with and without a history of HAEC as well as those diagnosed with short or long aganglionic segment. Targeted analysis identified several individual metabolites characteristic for all HD patients as well as those with a history of HAEC and long segment HD. Moreover, multivariate models based on untargeted data established statistically significant (p < 0.05) differences in comprehensive faecal metabolome in the patients' cohort as a whole and in patients with a history of HAEC. Pathway analysis revealed the most impact on amino sugar, lysine, sialic acid, hyaluronan and heparan sulphate metabolism in HD, as well as impaired tyrosine metabolism in HAEC group. Those changes imply disruption of intestinal mucosal barrier due to glycosaminoglycan breakdown and dysbiosis as major metabolic changes in patients' group and should be further explored for potential diagnostic or treatment targets., (© 2021. The Author(s).)

Background: Congenital abnormalities when present, according to VACTERL theory, occur nonrandomly with other congenital anomalies. This study estimates the prevalence of congenital spinal anomalies, and their concurrence with other systemic anomalies., Methods: A retrospective cohort analysis on Health care Cost and Utilization Project's Kids Inpatient Database (KID), years 2000, 2003, 2006, 2009 was performed. ICD-9 coding identified congenital anomalies of the spine and other body systems., Outcome Measures: Overall incidence of congenital spinal abnormalities in pediatric patients, and the concurrence of spinal anomaly diagnoses with other organ system anomalies. Frequencies of congenital spine anomalies were estimated using KID hospital-and-year-adjusted weights. Poisson distribution in contingency tables tabulated concurrence of other congenital anomalies, grouped by body system., Results: Of 12,039,432 patients, rates per 100,000 cases were: 9.1 hemivertebra, 4.3 Klippel-Fiel, 56.3 Chiari malformation, 52.6 tethered cord, 83.4 spina bifida, 1.2 absence of vertebra, and 6.2 diastematomyelia. Diastematomyelia had the highest concurrence of other anomalies: 70.1% of diastematomyelia patients had at least one other congenital anomaly. Next, 63.2% of hemivertebra, and 35.2% of Klippel-Fiel patients had concurrent anomalies. Of the other systems deformities cooccuring, cardiac system had the highest concurrent incidence (6.5% overall). In light of VACTERL's definition of a patient being diagnosed with at least 3 VACTERL anomalies, hemivertebra patients had the highest cooccurrence of ≥3 anomalies (31.3%). With detailed analysis of hemivertebra patients, secundum ASD (14.49%), atresia of large intestine (10.2%), renal agenesis (7.43%) frequently cooccured., Conclusions: Congenital abnormalities of the spine are associated with serious systemic anomalies that may have delayed presentations. These patients continue to be at a very high, and maybe higher than previously thought, risk for comorbidities that can cause devastating perioperative complications if not detected preoperatively, and full MRI workups should be considered in all patients with spinal abnormalities., Level of Evidence: Level III.

We present the case of a 45-day-old child with the chief complaint of failure to pass stools for 10 days. After initial investigation, the patient was found to have Hirschsprung's disease. However, with further examination and analysis, the extremely rare diagnosis of type 4 Waardenburg syndrome was made (also known as Shah-Waardenburg syndrome or Waardenburg-Hirschsprung's disease)., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)

The abnormality being the result of a certain transposition of the large intestine winding in between diaphragm and the liver, owes it's name to a so called Chilaiditi symptom. This symptom is rarely recognized for at most 0,025-0,28% of the whole population statistics - wise. The Chilaiditi symptom can be examined without any serious (abdominal) pain indication, when conducting the gastrointestinal examination with the implication of the different disorders. When carrying out the diagnostic examination, it is strongly recommended to take notice of patients suffering from the pain in abdominal area, especially in case of the patients with the developed air - structure under the right side copula of the diaphragm. The transposition of the large instestine winding between the diaphragm and the liver, may lead to the blood structure disorders along the part of patient's spot - pressed intestine and be the cause of the other afflictions. The circumstance as such is thus called by the name of Chilaiditi syndrome. The respective recognition of this syndrome may prevent the patient from any unnecessary assignment for a diagnostic and (or) any other therapeutic procedures in place.It may as well minimize the overall diagnostic treatment time lapse - usually concentrated on the pain relief treatment in the aftermath. The patients without examined affliction, (ex.) due to the liver disorders and the awareness of the existence of this syndrome in general, can be an indicator for taking up a decision for when it comes to the liver biopsy. This due to the risk of any perforation of the digestive tract., A Case Report: The report describes case of the 56-year-old male patient, directed onto the surgery department by cause of a quite significant epigastric pain in the right side of the abdomen, however without any of the peritoneal symptoms indicated. The x-ray examination of the chest has indicated presence of the air - structure under the diaphragm copula. Having stated that and without any other signals of the serious abdominal inflammation, this symptom gave trigger for the assumption of the gastrointestinal perforation. As a result, the tomography scan has revealed high curve placement of the diaphragm going along the patient's front lobe of the liver. In the result the Chilaiditi syndrome has been recognized by the patient, where the symptom based treatment has prescribed leading the same to the absolute healing results as an outcome. After leaving the surgery by the patient, it has been made use of the re-directory to the leading gastroenterology practice for any further control checks. In the aftermath of the several year long observation, none of the abdominal pains have been reported back., Conclusions: Presence of the air - structure under the diaphragm copula without any typical affliction in relation to digestive tract perforation might be the result of transposition of the large intestine winding between diaphragm and the liver - called the Chilaiditi syndrome.

Objectives: The aim of this study was to review the ultrasonographic features of secondary intussusception (SI) in children and assess the value of ultrasound in the diagnosis of pediatric SI., Methods: The authors performed a retrospective analysis on the ultrasound findings of 1977 cases of primary intussusception (PI) and 37 cases of SI in children. The SI cases were diagnosed by ultrasonography and confirmed by laparotomy or histopathologic diagnosis. The clinical and ultrasonographic features were analyzed and compared between these two groups., Results: The age, no flatus or defecation, position, diameter and length of intussusception, the presence of free intraperitoneal liquid, and intestinal dialation at the proximal end present, all contributed to the differentiation between PI and SI (all P < 0.05). Ultrasound was able to demonstrate the pathological lead point (PLP) shadows in all of the 37 SI cases, either in the cervical part or intussusceptum of the intussusception. Among the 37 SI patients, 21 cases (56.8 %) were accurately categorized with lesions, including intestinal polyps, cystic intestinal duplication, intestinal wall lymphoma, and a small part of Meckel's diverticulum., Conclusions: Ultrasound can be used as a feasible and effective method to discriminate PI from SI. Once the PLP is detected, a definite diagnosis can be made., Key Points: • The clinical and ultrasonographic features were compared between SI and PI. • The age, location, diameter and length of intussusception, and intestinal dilation were distinguishing features. • The causes of SI were found to be polyps, intestinal duplication, lymphoma, and Meckel's diverticulum. • Ultrasound can be used as an important method to diagnose SI. • Demonstration and confirmation of PLP are vital to diagnosing SI.

Objective: Cloacal exstrophy is an exceedingly rare and complex anomaly. The records of 23 patients treated in a tertiary care center with limited infrastructure were analyzed for anatomic types, associated anomalies, surgical procedures adopted, and the outcome., Materials and Methods: There were 14 males. Seventeen babies were preterm with an average weight of 1.92 kg. The time of presentation, gestational age, birth weight, position of the hemibladders and associated malformations were noted. Reconstruction procedures involved dismantling of the hemibladders and primary turn in, tubularization of the bowel with an end colostomy, and reconstruction of the abdominal wall. Results of the primary surgical repair, bowel function, and outcome of secondary procedures were analyzed., Results: The position of hemibladders was lateral in 11, upper confluent in 4 and lower confluent in 8. Associated anomalies were noted in 19 patients. Four patients presented late (>5 days). Five died preoperatively, all had major associated anomalies. Four of them were preterm with average weight of 1.4 kg. Two patients refused surgery. Single-stage surgical reconstruction was done in 15 patients. Five patients died postoperatively because of associated anomalies, prematurity, and sepsis. One patient is waiting for surgery. Six patients had follow-up at 3-42 months and are awaiting further reconstruction. Four patients were lost to follow-up., Conclusions: Prematurity, late presentation, and sepsis are the major causes of high mortality noted in this series. In our experience, single-stage reconstruction without osteotomy gives satisfactory results., (Copyright © 2013 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)

There are case reports of duplication of the colon, rectum, anus, urinary system, lower genital tract, and external genitalia, spinal anomalies, and abdominal wall defects. However, it is rare to encounter a single newborn with all of the mentioned abnormalities, which have been defined as the caudal duplication syndrome (CDS). Herein, we present a newborn with an omphalocele, duplex external genitalia (with duplex labia minora and labia majora), duplex urethral orifices, duplex vaginal orifices, and duplex anal dimple with imperforate anus and rectovestibular fistula on both sides. Exploration revealed duplex appendix, colon duplication, duplex uterus (continuing with tuba and ovaries on both sides), duplex rectum, malrotation of the intestines, with the cecum located in the middle of the abdomen, defect in the intestinal mesentery, and internal herniation of the small intestines through this defect. The intestines were operatively reduced and the defect repaired., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Unlabelled: Due to economic problems, sigmoid loop colostomy using glass rod may cause problems for our patients for finding glass rod and several visits. The aim of the study was to compare rod versus skin bridge colostomy., Material and Methods: In this study, 42 cases who are candidate for colostomy were included. Cases were randomly placed in skin bridge and rod colostomy group. Independent sample t-test and Chi-square were used for comparison. SPSS version 16.0 (SPSS Inc, Chicago, IL, USA) was used for analysis., Results: Of 42 cases, 20 were male and 22 were female. Hirschsprung's disease was the indication of colostomy in 33 cases. In nine cases, imperforate anus was the indication of colostomy. Mean time of surgery was 79.4 and 82.5 minute for the rod and skin bridge group respectively (P>0.05). Retraction was seen in 2 case of rod group, and no case of skin bridge group. Prolapse was seen in 2 (9.5%) case of rod group and 1(4.7%) case in skin bridge. There were no reports of necrosis, stenosis, and hernia in both groups., Conclusion: In the skin bridge group the rates of complications were lower but the groups are too small for statistical analysis. Colostomy with a skin bridge method may decrease number of revision and expenses and may be appropriate option. Sigmoid loop colostomy using skin bridge flap may be appropriate choice in developing country. Another study with more samples is recommended to better comparison of Skin Bridge versus rod colostomy.

Objectives: To present and retrospectively evaluate the technique of percutaneous embolization of chronic enterocutaneous fistulas (ECFs) using n-butyl-2-cyanoacrylate and Lipiodol under fluoroscopic guidance., Methods: Six patients with a total of seven post-operative low-output ECFs of the large intestine were treated. After fistulography a hydrophilic guide wire and a catheter were advanced through the ECF into the intestine. After dilation of the bowel with saline and contrast medium, the catheter was withdrawn into the enteric orifice and glue together with Lipiodol was injected while simultaneously pulling the catheter., Results: Complete closure of all seven fistulas was achieved. There were no peri-procedural complications. In one patient 1 month following embolization a low-output enteric discharge was observed, but the ECF spontaneously healed 5 days later. In one patient 18 months after the embolization a new perforation due to diverticulitis close to the embolization site occurred and resection of the sigmoid colon was performed. One patient needed reoperation due to a recurrence of rectal carcinoma., Conclusions: In our series of patients, the presented technique of percutaneous embolization proved to be efficacious and easy to perform. It may have potential as a first-line treatment of low-output ECFs but a prospective study with a larger series of patients and a longer follow-up is required.

Context: Cytochrome P450 oxidoreductase (POR) is an electron donor for all microsomal P450 enzymes including CYP26 involved in inactivation of all-trans retinoic acid (atRA). Although previous studies in Por knockout mice suggest that atRA accumulation is relevant to various posterior organ abnormalities, a systematic analysis has not been performed for anorectal and urinary anomalies in patients with POR deficiency (PORD)., Objective: To report the frequencies of anorectal and urinary anomalies and plasma atRA values in PORD patients., Patients: We studied 37 Japanese patients with PORD, consisting of 15 homozygotes for R457H (group A), 15 compound heterozygotes for R457H and one apparently null mutation (group B), and seven patients with other combinations of mutations (group C). Since R457H is a severe hypomorphic mutation, the residual POR function is predicted to be higher in group A than in group B., Results: Imperforate anus was observed in four patients (10.8%) and vesicoureteral reflux was found in three patients (8.1%), with no significant difference in the frequencies of such anomalies between groups A and B. In addition, a complex urogenital malformation including penile agenesis was identified in one patient. Plasma atRA values were above the reference range in nine of 12 patients examined, and were similar between groups A and B and between patients with and without anomalies., Conclusions: The results imply that aberrant atRA metabolism due to CYP26 deficiency underlies various anorectal and urinary anomalies in patients with PORD. Clinical phenotypes may be primarily determined by maternal oral retinol intake during pregnancy, and plasma atRA values may be largely influenced by the amount of postnatal oral retinol intake in such patients., (Copyright 2010 Elsevier Inc. All rights reserved.)

Purpose: Cloacal exstrophy is a rare and complex congenital anomaly requiring coordination among multiple pediatric subspecialties. There is currently no consensus regarding the fate and function of the hindgut, which plays an integral role in patients' long-term gastrointestinal health and genitourinary reconstruction., Methods: A retrospective chart review was performed evaluating 77 patients with cloacal exstrophy treated during the previous 44 years at our institution., Results: Seventy-seven patients with cloacal exstrophy were treated between 1965 and 2008. Sixty-five were white, 6 were African American, 3 were Asian, and 3 were Hispanic. Genotypes included 44 XY, 32 XX, and 1 XYY. Fifty-one were reared as females and 26 as males. The hindgut length was 2 to 5 cm in 11 patients, 6 to 10 cm in 18 patients, 11 to 15 cm in 6 patients, 16 to 20 cm in 7 patients, and greater than 20 cm in 2 patients. The hindgut length was unknown in 33 patients. Forty-seven patients had tubularization of the cecal plate with an end colostomy, and 30 patients had an ileostomy placed for bowel diversion purposes. Four patients had short gut syndrome. Thirty-one patients had genitourinary reconstruction, 12 using small bowel and 19 using colon. Eight patients had hindgut pull-through procedures., Conclusion: Gastrointestinal ramifications of the cloacal exstrophy complex include the occurrence of short gut syndrome and significant fluid and electrolyte derangements in patients receiving an ileostomy for initial intestinal management. This has caused a paradigm shift of initial intestinal management to tubularization of the cecal plate with end colostomy placement. This shift has eliminated the occurrence of short gut syndrome and enabled patients to be candidates for intestinal pull-through procedure if these patients are able to form solid stool, have a reasonable degree of pelvic neuromuscular development, and are able to comply with a bowel management program., (Copyright 2010 Elsevier Inc. All rights reserved.)

Colonic atresia, unlike small intestine atresia, is a rare congenital malformation. Congenital absence of the entire colon is exceptionally rare. Moreover, an association of omphalocele and complete absence of the colon has not yet been reported in the literature. We present an infant born with such combination of congenital anomalies.

A 5-day-old Simmental calf was referred to our department for atresia ani and postural abnormalities caused by skeletal deformities. The calf had a short and deviated tail and a bowed hind limb. The calf appeared like a male because of the prepuce and penis located just near the teats and the absence of female external genitalia. During the necropsy, a horseshoe kidney, single ureter that originated from the kidney, and bilateral uterine horns with one ovary each were detected. The ureter, blind-ended large intestine, and bilateral uterine horns were connected to a dilated cloaca having two sacs, which were filled with a yellowish brown viscous fluid admixed with meconium and urine. Skeletal deformities found included scoliosis, partial synostosis of vertebrae, deviation of rudimentary sacrum and coccygeal vertebrae, and narrowed pelvic cavity. This is the first report of an anomalous combination including urogenital, large intestinal, and skeletal deformities in cattle.

This report presents an otherwise healthy infant who developed unexplained apnea and long-segment Hirschsprung disease. After extensive evaluation that included a paired-like homeobox 2b gene (PHOX2B) analysis, he was found to have Haddad syndrome, a congenital disorder that features central congenital hypoventilation syndrome in conjunction with Haddad syndrome. Recent work has associated polyalanine repeats within the PHOX2B gene on chromosome 4p12 with central congenital hypoventilation syndrome, whereas PHOX2B knockout mice develop aganglionic bowels.

Acardiac twin syndrome is a rare complication affecting monozygotic twins, where one twin fails to develop normally and completely. In this report, we present an acardiac fetus that was seen for evaluation at 26 weeks of gestation. Initial routine ultrasound examination suggested anomalies. The first detailed ultrasound demonstrated a normal fetus with appropriate growth plus an acardiac twin with a hypoplastic lower limb with subcutaneous edema and intestine-like organ near it. The pregnancy was followed with serial ultrasonography and spontaneous delivery occurred at term. A normal infant was born, and after delivery of the placenta, at the chorionic plate of the placenta there was a sac with diminished fluid, containing some loops of the intestine. A thin cord of one vascular channel was attached to the common placenta. In our literature review, this type of acardiac fetus has not been reported previously., (Copyright 2008 S. Karger AG, Basel.)

Background: In children, colostomy may be required as a crucial part of treatment of some congenital anomalies of the large bowel. The procedure is associated with significant complications. This study reviews the morbidity and mortality of colostomy formation and closure for large bowel anomalies over a 10-year period in southeast Nigeria., Methods: Evaluation of 182 colostomies and 146 colostomy closures performed in children at the University of Nigeria Teaching Hospital Enugu from January 1995 to December 2004., Results: Hirschsprung's disease (106) and anorectal malformation (76) were the large bowel anomalies requiring colostomy. Of these, 133 (73.1%) were boys, while 49 (26.9%) were girls and their age ranged from 3 days to 15 years (mean 2.8 years). For anorectal malformation, the mean age at colostomy formation was 15.5 days (range 3-75 days), while in Hirschsprung's disease the mean age was 4.6 years (range 8 days-15 years). Ninety-two children (50.5%) had defunctioning colostomy and 90 (49.5%) had loop colostomy, with 177 (97.3%) of these sited in the transverse colon, while the remaining 5 (2.7%) were sited in the sigmoid colon. There were 123 complications that developed in 79 (43.4%) children. Skin excoriation (40 cases) and prolapse (37 cases) were the commonest complications. Other complications included wound infection (20 cases), superficial wound dehiscence (9 cases), stoma stenosis (5 cases), stoma retraction (5 cases), stoma bleeding (3 cases) and 2 cases each of stoma necrosis and burst abdomen. The complications were not dependent on the primary indication but prolapse occurred more frequently in children with Hirschsprung's disease who had colostomy after 5 years of age (P<0.001). Loop colostomy had higher complication rate than defunctioning colostomy (P<0.001). Colostomy revision was required in 15 patients. Death directly related to colostomy formation occurred in 3 (1.6%) patients from severe infection. Complications following colostomy closure (20 cases) occurred in 17 children and include wound infection (11 cases), stitch granuloma (5 cases), and 2 cases each of small bowel obstruction and incisional hernia. These were not related to the duration of the colostomy., Conclusions: A significant number of colostomies for large bowel anomalies are constructed late in our setting. This is largely due to delayed presentation in Hirschsprung's disease and may be associated with increased morbidity. Loop colostomy is associated with higher rate of complication and as much as possible should be performed less often.

Objective: Although Chilaiditi's sign is uncommon, its recognition is mandatory to avoid intestinal injury during percutaneous transhepatic procedures. Our purpose was to investigate the prevalence of Chilaiditi's sign in cirrhotic patients without ascites and to review the diagnostic ability of sonography to detect this rare abnormality., Conclusion: The prevalence of Chilaiditi's sign was much higher in cirrhotic patients without ascites than in the general population. A precise diagnosis of Chilaiditi's sign was possible using sonography. Percutaneous transhepatic procedures can be performed safely if a route that avoids the intestine is found.

Total parenteral nutrition (TPN) of rats has been demonstrated to produce hypoplasia of gut mucosa, and to be associated with reduced immune response and elevated translocation of bacteria from gut to mesenteric lymph nodes, spleen and liver. Treatment of rats being maintained on TPN with the proglucagon fragment, glucagon-like peptide-2 (GLP-2), has been shown to totally prevent small intestine mucosal hypoplasia. In the present study, we found that depletion of polyamines with alpha-difluromethylornithine (DFMO) significantly reduced the efficacy of GLP-2 in preserving gut mucosa in rats maintained on TPN for 8 days. Co-infusion of GLP-2 with TPN prevented loss of protein and mucosa in duodenum, jejunum and ileum, but not in colon. Addition of DFMO to the infusate prevented the protective effects of GLP-2 in the duodenum and jejunum. In the jejunum, putrescine and spermidine were reduced in DFMO-treated rats, while the ileum exhibited reductions of these polyamines in rats infused with TPN or TPN plus GLP-2. DFMO infusion further reduced these polyamines in the ileum, while levels of spermine were increased. Concentrations of ornithine decarboxylase were elevated in jejunum of rats infused with TPN or TPN plus GLP-2, but were reduced significantly in DFMO-treated rats. These results suggest that normal levels of polyamines are necessary for the expression of GLP-2-induced hyperplasia. Differential effects of GLP-2 and DFMO across gut segments may relate to regional differences in proliferative and anti-apoptotic effects of the treatments.

The radiological imaging plays a vital role in the evaluation of patients with congenital anomalies of the gastrointestinal tract. The evaluation of these patients, most of which present early after birth, frequently requires the use of various imaging modalities for making the correct diagnosis and planning surgical correction. This article reviews the common congenital anomalies of the gastrointestinal tract including obstructive lesions, anomalies of rotation and fixation, anorectal anomalies, and intestinal duplications. The plain radiograph is often diagnostic in neonates with complete gastric of upper intestinal obstruction and further radiologic evaluation may be unnecessary. An upper gastrointestinal series should be performed in all patients with incomplete intestinal obstruction. Sonography is useful in the evaluation of many congenital anomalies affecting pediatric gastrointestinal tract especially hypertrophic pyloric stenosis, enteric duplication cysts, midgut malrotation, meconium ileus and meconium peritonitis. Moreover, CT and MRI has assumed a greater importance as these provide excellent anatomic details which may be necessary for correct diagnosis as well as treatment planning. This is particularly true in evaluation of congenital anomalies such as esophageal/enteric duplications, vascular rings and anorectal anomalies. It is important to be familiar with the role nad usefulness of the various imaging modalities so that these can be used judiciously to avoid unnecessary radiation exposure while minimizing the patient discomfort.

Conjoint twins have always been a surgical challenge. The authors report an unusual finding in a surviving epigastric heteropagus twin. A 17 year old boy who underwent laparotomy for acute intestinal obstruction revealed a blind ending but complete duplication of the large bowel and an accessory liver in the falciform ligament, along with a separate gall bladder but with fused bile ducts. The findings suggest that the duplicated bowel loop and the accessory liver were remnants of the incomplete parasite twin, assimilated into the body of the autosite, which remained asymptomatic for 17 years. This case is being reported because of the uniqueness of the finding.

Background/purpose: C-Kit-positive interstitial cells of Cajal (ICCs) have a key role in the normal motility function and development of the bowel. They are pacemaker cells, which facilitate active propagation of electrical events and neurotransmission in the bowel wall. ICCs are present in the bowel as myenteric ICCs (ICC(my)S) and muscular ICCs (ICC(mus)S). The aim of this study was to examine the distribution of c-Kit-positive ICCs and their relationship to the autonomic intrinsic innervation in bowel specimens from patients with isolated hypoganglionosis., Methods: Full-thickness large bowel specimens were obtained from 6 patients with hypoganglionosis and from 4 patients during bladder augmentation (controls). Frozen sections and whole-mount preparations were stained using c-Kit immunohistochemistry, nicotinamide adenine dinucleotide phosphate (NADPH)-diaphorase, and acetylcholinesterase (AChE) histochemistry and evaluated using normal brightfield and confocal laser scanning microscopy., Results: NADPH-diaphorase and AChE histochemistry findings showed characteristic histologic features of hypoganglionosis, eg, sparse and small myenteric ganglia and low or absent AChE activity in the lamina propria. Myenteric plexus in the normal bowel was surrounded by a dense network of c-Kit-positive ICC(my)S, whereas in hypoganglionosis sparse isolated ICC(my)S were found. C-Kit-positive ICC(mus)S were reduced markedly in the longitudinal and circular muscle layer and at the innermost part of the circular muscle in hypoganglionosis., Conclusion: Deficient expression of c-Kit-positive myenteric and muscular ICCs in the hypoganglionic colon may contribute to the motility dysfunction in the affected bowel., (Copyright 2002, Elsevier Science (USA). All rights reserved.)

With the routine use of fetal imaging studies during prenatal care, increased numbers of unusual intrauterine events are now detected. Prenatal closure of the abdominal defect in gastroschisis is an example. We report a 34 5/7-week stillborn who had prenatal closure of a ventral abdominal wall defect, which had been seen earlier on fetal ultrasound examination. Two ultrasound examinations performed at 15 1/7 weeks and 19 1/7 weeks showed a mass of exteriorized bowel that herniated through the abdominal defect, just to the right of the umbilical cord. At 30 1/7 weeks, no exteriorized bowel was seen, but thickened and dilated intraabdominal bowel was identified. No abdominal defect or exteriorized bowel was found at autopsy. There was a severely dilated proximal jejunum with the absence of the rest of the small intestine and the right side of the colon. The remaining left side of the colon was small and blind proximally. Six similar isolated examples have been reported since 1991. Prenatal closure of an abdominal defect was associated with long-segment atresia of the midintestine in each case. We believe that the spontaneous closure of this abdominal defect was associated with atresia and resorption of exteriorized bowel. It is likely some of the cases of long-segment atresia may in fact be associated with closed gastroschisis.

Background: Congenital atresia of the small and large intestine is thought to evolve from in utero mesenteric vascular occlusion of the corresponding intestinal segment. Because spontaneous thrombosis recently has been described in association with inherited thrombophilia, the authors wondered if inherited thrombophilia also might be found in babies with intestinal atresia., Methods: Genetic analysis was done on 28 children treated for congenital intestinal atresia. DNA was analyzed for point mutations to detect the 2 most common types of inherited thrombophilia, the G1691A mutation in the factor V gene (factor V Leiden) and the G20210A mutation in the prothrombin gene. In addition, other genetic risk factors for thrombosis were analyzed including the C677T mutation in the methylenetetrahydrofolate reductase gene (MTHFR) and 2 polymorphisms of the factor VII gene (the R353Q and the hypervariable region 4 polymorphisms)., Results: The factor V Leiden mutation was present in 5 of 28 (18%) children treated for congenital intestinal atresia. This is increased significantly when compared with the reported carrier frequency of 3% to 7% in the general population and a reported carrier rate of 4.2% in the local population (P <.005). The R353Q polymorphism of the factor VII gene, specifically the RR genotype, was noted in 85% of patients with atresia with an expected frequency of 64% (P <.008). There were no significant associations noted between mutations in the prothrombin gene, the MTHFR gene, or the hypervariable region of the factor VII gene., Conclusions: The factor V Leiden mutation and the RR subtype of the R353Q polymorphism of the factor VII gene are seen at an increased frequency in children with congenital intestinal atresia. This suggests that inherited thrombophilia may play a role in the etiology of these in utero mesenteric thrombotic events., (Copyright 2001 by W.B. Saunders Company.)

Purpose: The aim of this study was to evaluate the outcomes of reconstruction of all cloacal exstrophy cases seen by the authors from 1974 to 1999., Methods: A retrospective chart review and personal follow-up was conducted on all 50 patients, who ranged in age from newborn to 35 years. Thirty-eight were secondary cases, 12 were primary (no previous surgery). Twenty-eight (56%) were genetic boys; 6 were raised as boys and 22 as girls. Forty patients underwent extensive reconstructive surgery; 6 await reconstruction, and 4 were seen only in consultation. For urinary continence, 21 had bladder neck narrowing, 7 received a bowel nipple, and 12 had a Mitrofanoff catheterizable conduit on the abdominal wall, using tapered intestine in 8, ureter in 3 and the appendix in 1. Four patients had a urostomy. Bladder augmentation was performed in 35 patients (18 with stomach, 11 small bowel, and 6 with both). Twenty-five patients had pull-through of their colon to the perineum. Thirty-two have had a vagina constructed. Forty-seven of the 50 patients had spinal cord tethering, and most underwent neurosurgical release., Results: Overall survival rate was 98%; 1 patient died preoperatively at another institution. Acceptable bowel continence was achieved with enema washouts in 19 of 25 pullthroughs; 4 failed and were reversed. One case is too recent to judge. Of 40 reconstructed cases, 31 were dry, 3 had slight leakage, and 1 is too early to evaluate. Five had enough leakage to require further surgery., Conclusions: The once hopeless anomaly of cloacal exstrophy is treatable with extensive reconstructive surgery. Continence of urine (mainly by catheterization) and stool (mainly by enema washouts) is achievable in most. The hindgut, including the cecum and the usually rudimentary distal colon, should be saved and used as colon, not for urinary or vaginal reconstruction. In genetic boys, the authors continue to believe that gender assignment should depend on the likelihood for reconstructing an adequate phallus.

Duplications of the alimentary tract are one of the rare anomalies of the gastrointestinal system. Because of the wide spectrum of the signs and symptoms, preoperative diagnosis frequently cannot be made. A close familiarity with clinical and surgical characteristics provides appropriate management and treatment of duplications. A retrospective clinical study was conducted to evaluate clinical and surgical characteristics and the treatment of duplications of the alimentary tract. During a 26-year period between 1971 and 1997, 38 patients with duplications of alimentary tract underwent operation at the Hacettepe University Department of Pediatric Surgery. Forty-two duplications in 38 patients (20 male, 53%; 18 female, 47%) were encountered. Sixty-nine percent of the patients were symptomatic under the age of one year, with 24 percent presenting with symptoms in the neonatal period. There were one sublingual, nine intrathoracic (including 2 thoracoabdominal) and 32 intraabdominal duplications. Abdominal mass, abdominal distention, constipation, vomiting and respiratory distress were the most frequently encountered signs and symptoms. Plain thoracic and abdominal X-rays, ultrasonography, and computed tomography of the chest and abdomen were the most commonly used diagnostic radiological methods. Thirty-three duplications (79%) were spherical and nine (21%) were tubular. Multiple duplications were encountered in two patients (5.3%). Fourteen duplications (33%) contained heterotopic mucosa, mostly gastric type. More than one type of heterotopic mucosa in the same duplication was encountered in four duplications (10%). Additional malformations were encountered in 26 percent of patients. Six patients (15.8%) died from unrelated causes. The signs and symptoms vary among duplications. Signs and symptoms leading to diagnosis and surgery varied according to the age of patient, location of the duplication, type of mucosal lining, duration of disease and presence of complication. The ideal surgical treatment of duplication is complete excision. However, the other treatment options should be well known.

An 11-month-old girl with a prolonged history of bloody, mucoid diarrhea is presented. Although the initial diagnosis given by the rectosigmoid biopsy obtained during laparotomy was neuronal intestinal dysplasia, accompanying findings including mixed inflammatory cell infiltration of the mucosa and submucosa with mucosal ulcerations suggested nonspecific colitis. The subsequent biopsy specimen that was obtained after performing colostomy and treating with broad-spectrum antibiotics and rectal irrigations showed improvement in the structure of ganglion cells and submucous and myenteric plexuses. Although the mucosal ulcerations and inflammatory reaction improved, the colonic stricture persisted, so the Duhamel procedure was performed, and the patient had an uneventful outcome. It is claimed that inflammatory disease of the rectosigmoid colon of unknown etiology and neuronal intestinal dysplasia have occurred together in the current case or that one disease might cause the other in time.

Background: Gastrointestinal duplications are rare, benign congenital lesions that may occur at any location along the alimentary tract and generally require surgical intervention. Presenting symptoms may be quite varied even among patients with the same anomaly., Objective: To review the clinical presentation of gastrointestinal duplications and present our experience with such lesions over the past decade., Methods: The records of all patients treated for gastrointestinal duplications at a tertiary hospital during 1987 through 1996 were collected, and relevant published literature reviewed., Results: In the nine patients with gastrointestinal duplications, six were in the small bowel and one each in the cecum, colon and esophagus. Presenting clinical features were varied and often subtle. Perinatal ultrasonography, radioscintography and computerized tomography were useful in some cases, while in others the correct diagnosis was established only at surgery., Conclusions: Alimentary tract duplications are uncommon, and may present as solid or cystic tumors, intussusception, perforation or gastrointestinal bleeding. A high index of suspicion is required when dealing with such cases. Appropriate investigations, including imaging techniques, should be directed toward adequate and planned surgery.

Hereditary multiple atresia of the gastrointestinal tract is an extremely rare subgroup of intestinal atresia. The aim of this study was to report a new case, to review the literature, and to describe the unique features of this malformation. A computer-generated list of articles on this subject was obtained, and all articles relative to this malformation were reviewed. Thirty-five other well-documented cases were found in the literature. Hereditary multiple atresias have several unique features: (1) the abdominal x-ray shows signs of gastric or duodenal atresia combined with typical large rounded or oval homogeneous calcifications in the abdominal cavity, (2) intraoperatively widespread atresias (exclusively type I and II) extending mostly from stomach to rectum are found, (3) cystic dilatation of the bile ducts can be present in cases with both complete pyloric and duodenal or proximal jejunal atresia, (4) the pathogenesis is still speculative; a combined immunodeficiency should be excluded, and (5) a fatal outcome is the rule.

We report on prenatal diagnosis of gastroschisis at 20th gestational week. In addition to gastroschisis intraabdominal intestinal stenosis was detected. As a consequence cesarean section was planned close to term. Control examinations in the last trimester didn't confirm initial diagnosis so that the recommended mode of delivery was changed. However postpartum diagnosis again confirmed the early diagnosis of gastroschisis including spontaneous necrosis of dislocated intraamniotic intestinal parts. The course demonstrates that even at unambiguous prenatal diagnosis control examinations are recommended as dynamic changes may occur in the second and third trimester. Thus mode of delivery may have to be adapted close to term to reduce maternal risk.

The reserve potential of children with developmental defects of the large intestine and the anorectal area was assessed from cardiovascular function and its adaptation to the new level (determined from the vegetative tone) and adequacy of tissue perfusion. Forty-three children with the above disease, aged 2 months to 14 years, were examined. Three types of hemodynamic disorders were detected, corresponding to certain states of adaptation mechanisms. The hyperdynamic type corresponded to adequate adaptation, manifesting by moderate activation of the sympathoadrenal system during the first hours postoperation and its normalization during the first 24 hours. Dysadaptation disorders were detected in patients with the initial normodynamic circulation and pathological adaptation in those with the hypodynamic circulation, which was to be corrected both before and after surgery.

Materials of surgical treatment of 5 patients are presented who were conservatively treated for severe chronic constipation. This treatment was unsuccessful. Truncal subdiaphragmatic vagotomy with pyloroplasty was fulfilled in 4 patients, in one patient this procedure was accompanied by resection of the sigmoid colon. In all the patients the results obtained were promising.

Fifty-eight calves with intestinal atresia at different sites were treated surgically. In only four of the animals the anal opening was reconstructed directly in the perineal region. In the remaining cases the final extent of the atresia was confirmed by a right flank laparotomy and in seven calves an anal opening was made in the perineal region and in seven calves the opening was made in the right flank. The remaining 40 calves were euthanased for different reasons. Seven of the 18 surgically corrected animals made a satisfactory recovery.

We describe an infant with multiple segmental areas of atresia of the small and large bowel, with histologic features characteristic of the hereditary form of the disease. Posttransfusion graft-versus-host disease developed first, and then immunodeficiency was found. This report confirms the association between hereditary multiple intestinal atresia and immunodeficiency. We recommend irradiation of blood products in patients with multiple intestinal atresia pending evaluation of immune system status.

A 27-year-old mother was diagnosed by prenatal ultrasonography as having triplets at gestational age 32 weeks. Following cesarean section at 37 weeks, a pair of female babies were noted for the first time to be joined by a common pelvis with three lower limbs. They had separate upper gastrointestinal tracts, which joined in the distal ileum, leading to a common colon, rectum, and a single anus. Each twin had a functioning kidney, with a single ureter leading to a common bladder. A common urethra originating from the bladder neck ran into the urogenital sinus of one baby. Prior to the surgical separation, placement of four tissue expanders and 20 pneumoperitoneums were performed, in order to stretch the parietes for easier approximation of the wound edges. At 13 months of age, separation was performed, requiring 17 hours. The skin and musculature from the conjoined third leg was used as a fillet for abdominal wall closure in each patient. One infant was given the distal half of the colon and an entire anus with a temporary jejunostomy, and the right half of the bladder with the urethra. The other infant was given the proximal half of the colon with a permanent colostomy, and the left half of the bladder with permanent cystostomy using appendiceal pedicle graft (Mitrofanoff's procedure). This is the 10th case of surgical separation in ischiopagus tripus twins reported in the literature, and the seventh successful separation with both patients alive.

Due to the performed analysis of data from literature and the author's observations of the Taunse-Brock's syndrome a wide variability of phenotypic manifestations is shown, the diagnostic criteria of syndrome are determined, its autosomic-dominant inheritance with complete penetrance is confirmed.

Objective: To identify those congenital fetal anomalies, previously identified by ultrasound scanning, in which fast-scan magnetic resonance imaging (F-SMRI) would give additional information for the perinatal management of the infants., Design: Observational clinical study., Setting: Hospital Department of Obstetrics and Gynaecology/Resonance Research Centre., Subjects: Seven women carrying eight fetuses in whom congenital abnormalities had been identified using ultrasound scans. The duration of the pregnancies was 28 to 39 weeks gestation., Interventions: Fast-scan magnetic resonance imaging at between 28 and 39 weeks gestation., Main Outcome Measures: Identification of fetal abnormalities., Results and Conclusions: F-SMRI was of limited value in the diagnosis of further assessment of fetuses with abnormalities of accumulation of tissue fluid. Renal anomalies were poorly identified unless associated with cystic formation of the kidney. Further study is required in the imaging of fetal central nervous system anomalies. Until echoplanar imaging is more widely available, MRI does not contribute to the diagnosis of cardiac anomalies. F-SMRI appears to be most useful in the diagnosis and management of soft tissue gastro intestinal abnormalities.