Jejunal Occlusion Caused by Heterotopic Gastric and Duodenal Mucosa: A Late Complication of a Complex Intestinal Malformation.

We report a rare case of late complication of a complex intestinal malformation. At day 1 of life, a baby girl underwent resection of an atretic jejunal segment, associated with an enteric duplication harboring foci of gastric and duodenal heterotopia. After an asymptomatic period of 19 years, the patient presented with acute bowel obstruction. Recurrence of the jejunal occlusion at the previous anastomotic site was caused by mucosa hyperplasia in association with heterotopic gastric and duodenal tissue. A Wnt/ß-catenin pathway deregulation was hypothesized but not confirmed by CTNNB1 exon 3 mutation analysis. This case illustrates a rare association of 3 pathologies-namely, intestinal atresia, enteric duplication, and heterotopia, with a late-occurring acute complication.

Reversible small bowel obstruction in the chicken foetus.

BACKGROUND: Ligation of the embryonic gut is an established technique to induce intestinal obstruction and subsequently intestinal atresia in chicken embryos. In this study, we modified this established chicken model of prenatal intestinal obstruction to describe (1) the kinetics of morphological changes, (2) to test if removal of the ligature in ovo is possible in later embryonic development and (3) to describe morphological adaptations following removal of the ligature. MATERIALS AND METHODS: On embryonic day (ED) 11, small intestines of chick embryos were ligated micro surgically in ovo. In Group 1 (n = 80) gut was harvested proximal and distal to the ligation on ED 12-19. In Group 2 (n = 20) the induced obstruction was released on day 15 and gut was harvested on ED 16-19. Acetyl choline esterase staining was used as to assess resulting morphological changes. RESULTS: A marked intestinal dilatation of the proximal segment can be seen 4 days after the operation (ED 15). The dilatation increased in severity until ED 19 and intestinal atresia could be observed after ED 16. In the dilated proximal segments, signs of disturbed enteric nervous system morphology were obvious. In contrast to this, release of the obstruction on ED 15 in Group 2 resulted in almost normal gut morphology at ED 19. CONCLUSION: Our model not only allows the description of morphological changes caused by an induced obstruction on ED 11 but also-more important - of morphological signs of adaptation following the release of the obstruction on ED 15.

Urologic and anorectal complications of sacrococcygeal teratomas: prenatal and postnatal predictors.

PURPOSE: Anorectal and urologic sequelae are observed in long-term survivors of sacrococcygeal teratoma (SCT). In this study we evaluate the incidence and predictors of anorectal and urologic complications in SCT. METHODS: A retrospective review was performed for all SCT patients who underwent resection at a single institution between 2000 and 2012. Enrollment criteria included a minimum of 12months follow-up. Categorical variables were analyzed by Fisher's exact test and continuous variables by Mann Whitney test (p<0.05). RESULTS: Forty-five patients were studied. Anorectal complications occurred in 29%, including severe chronic constipation (n=13) and fecal incontinence (n=4). Urologic complications occurred in 33%, including neurogenic bladder (n=12), vesicoureteral reflux (n=5), and urinary incontinence (n=7). Prenatal imaging by fetal MRI demonstrated mass effect with obstruction of the bowel (n=4) or bladder and collecting system (n=7) in a subset of patients with postnatal complications (anorectal 4/4, PPV 100%; urologic 6/7, PPV 86%). Postnatal complications were associated with obstructive findings on prenatal imaging, prenatal therapeutic interventions, Altman classification, perineal reconstruction, and tumor recurrence. No anorectal or urologic complications occurred in patients with Altman type I tumors. CONCLUSIONS: Urologic and anorectal complications are common in patients with SCT. Higher Altman classification and prenatal imaging suggestive of intestinal or urologic obstruction should prompt focused prenatal counseling and postnatal screening for anorectal and urologic dysfunction.

Prenatal ultrasound in the prediction of bowel obstruction in infants with gastroschisis.

OBJECTIVE: To assess the value of prenatal ultrasound in predicting bowel obstruction requiring surgery in fetuses with prenatal diagnosis of gastroschisis. METHODS: The database of our center was searched for cases with an antenatal diagnosis of gastroschisis. The ultrasound images were reviewed blindly to assess the presence of intra- or extra-abdominal bowel dilatation. Details of surgical procedures were noted and the discharge letters were obtained. Pediatric follow-up was also obtained from pediatric surgeons, general practitioners or parents. RESULTS: In the 10-year period between November 1998 and September 2008 there were 62 cases with a prenatal diagnosis of gastroschisis. Postnatal outcome was not available for five cases, four pregnancies underwent termination and intrauterine fetal demise occurred in five cases. A final population of 48 liveborn infants was available for analysis. Intra-abdominal bowel dilatation was identified in 14 of these 48 fetuses (29.2%) and extra-abdominal bowel dilatation in 30 (62.5%) fetuses on prenatal ultrasound images. Eight fetuses (16.7%) had bowel obstruction. The relative risk of bowel obstruction with intra-abdominal bowel dilatation was 4.05 (95% CI, 1.12-14.70). On the other hand, the relative risk of bowel obstruction with extra-abdominal bowel dilatation was 1.0 (95% CI, 0.37-3.70). Four babies died, two of whom had intra- and one had extra-abdominal bowel dilatation. CONCLUSIONS: Intra-abdominal dilatation of the bowel on prenatal ultrasound examination appears to predict postnatal bowel obstruction and the need for surgical resection. Extra-abdominal bowel dilatation is observed frequently on prenatal ultrasound scans, but is not predictive of bowel obstruction.

Myenteric plexus alterations downstream from a prenatal intestinal obstruction in a rat model.

The enteric nervous system maturation occurs during embryonic life and continues after birth. Some prenatal events on the digestive tract such as intestinal atresia have been shown to dramatically alter this maturation. Thus, we developed a fetal rat model of intestinal atresia by surgically obstructing the small bowel at embryonic day E18. Fetuses were removed at day E21, and small bowels sections were examined by immuno-histochemistry. Synaptophysin and smooth muscle actin staining was used to define the cellular aspect. Labeling revealed marked alterations of the myenteric plexus in the lower extremity of the occluded small bowel. At day E21, the myenteric plexus of the lower part and the 2 muscle layers surrounding it, retained the staining pattern observed at day E17. This cellular pattern was classified as: immature (aspect at day E17) vs. mature (aspect of day E21) by 3 pathologists not familiar with the study. The number of samples with an immature cellular pattern at the lower end of the occluded bowel was different from that observed for the upper end (Mac Nemar test, p<0.008). Our study suggests that a prenatal obstruction induces a maturation delay of the myenteric plexus downstream of the obstruction. This might be important for pediatric purposes.

Serial transverse enteroplasty as primary therapy for neonates with proximal jejunal atresia.

Small bowel atresia is associated with a large size discrepancy between the proximal and distal segments of bowel that has traditionally been managed by resection of the dilated segment, tapering enteroplasty, or plication. Longitudinal intestinal lengthening is rarely performed at the time of the initial operation. Many patients with small bowel atresia also have a short length of residual small intestine secondary to in utero resorption. The authors present the clinical application of the novel intestinal lengthening procedure, the serial transverse enteroplasty, in a neonate with proximal jejunal atresia and suggest that it become part of the armamentarium for surgeons treating patients with this anomaly.

Experimental small bowel obstruction in chick embryos: Effects on the developing enteric nervous system.

BACKGROUND/PURPOSE: After surgical repair of congenital small bowel atresias, intestinal motility disorders often are observed. These may be caused by changes in the enteric nervous system (ENS) secondary to obstruction. To assess these changes, small bowel atresias were induced experimentally in chick embryos. METHODS: On day 11, the small intestines of 90 chicken embryos were ligated microsurgically in ovo. Breeding of the eggs was continued until day 19. The small bowel was removed, fixed, and embedded for silver-staining, semithin serial sections, and transmission electron microscopy. Additionally, acetyl-cholinesterase (AChE)-staining was performed. Normal chick embryos of the same age served as controls. RESULTS: Macroscopically, experimentally induced small bowel atresias had the same characteristics as human newborns. Microscopically, the wall structure was preserved; however, the ENS differed markedly from controls. Both proximal and distal to the obstruction, the submucosal plexus was almost completely absent, whereas the myententeric plexus was diminished only in the proximal dilated blind pouch. The axonal net was disrupted additionally. Ganglion cells of the myenteric plexus in the proximal segment were arranged in longitudinal clusters of densely packed cells. In the distal segment ganglion cells formed round clusters. The cells of Cajal, which normally surround the myenteric ganglia, were absent in the proximal and distal segments. CONCLUSIONS: In our experiments, structural changes in the ENS could be observed secondary to experimentally induced small bowel atresias in the chick. Because of the lack of ischemia in this model, the main cause of these ENS changes seems to be the dilatation oft the proximal gut. Dilatations are common features in intestinal atresias, anorectal malformations, and Hirschsprung's disease. Our observations, thus, explain motility disorders after the surgical repair of these diseases.

Gdnf haploinsufficiency causes Hirschsprung-like intestinal obstruction and early-onset lethality in mice.

Hirschsprung disease (HSCR) is a common congenital disorder that results in intestinal obstruction and lethality, as a result of defective innervation of the gastrointestinal (GI) tract. Despite its congenital origin, the molecular etiology of HSCR remains elusive for >70% of patients. Although mutations in the c-RET receptor gene are frequently detected in patients with HSCR, mutations in the gene encoding its ligand (glial cell line-derived neurotrophic factor [GDNF]), are rarely found. In an effort to establish a possible link between human HSCR and mutations affecting the Gdnf locus, we studied a large population of mice heterozygous for a Gdnf null mutation. This Gdnf(+/-) mutant cohort recapitulates complex features characteristic of HSCR, including dominant inheritance, incomplete penetrance, and variable severity of symptoms. The lack of one functioning Gdnf allele causes a spectrum of defects in gastrointestinal motility and predisposes the mutant mice to HSCR-like phenotypes. As many as one in five Gdnf(+/-) mutant mice die shortly after birth. Using a transgenic marking strategy, we identified hypoganglionosis of the gastrointestinal tract as a developmental defect that renders the mutant mice susceptible to clinical symptoms of HSCR. Our findings offer a plausible way to link an array of seemingly disparate features characteristic of a complex disease to a much more narrowly defined genetic cause. These findings may have general implications for the genetic analysis of cause and effect in complex human diseases.

Enteric nervous system, interstitial cells of cajal, and smooth muscle vacuolization in segmental dilatation of jejunum.

BACKGROUND/PURPOSE: The etiology of congenital segmental dilatation (CSD) of bowel remains elusive. Intestitial cell of Cajal plays a role in the pace making of the intestine. Its abnormality has been documented in a variety of conditions of abnormal intestinal motility. The current study attempts to evaluate the roles of intestitial cells of Cajal, enteric nervous system, and smooth muscle in segmental dilatation of small bowel. METHODS: Resected specimen from a neonate with segmental dilatation of jejunum was stained with H&E, Alcian blue, Periodic Acid-Schiff (PAS), and immunostained with S100, Ret, MAP5, and c-kit antibodies using the standard immunohistochemical process. RESULTS: The immunostaining of S100, Ret, MAP5 and c-kit of CSD specimen were positive. Localized vacuolization was, however, detected in the circular smooth muscle of the jejunum. The Alcian blue and PAS staining of the vacuolization were negative. CONCLUSIONS: CSD shows no abnormality in the enteric nervous system and pace makers. Localized vacuolization suggests myopathy to be a contributing factor to the disease. J Pediatr Surg 36:930-935.

Divertículo de Meckel / Meckelïs diverticulum

Se presenta un caso de divertículo de Meckel en un paciente adulto que debutó clínicamente con un cuadro de obstrucción intestinal complicada y que requirió exploración quirúrgica precoz. Se revisan los conceptos vigentes desde el punto de vista embriológico, diagnóstico y terapéutico, presentando los resultados de otras experiencias publicadas

Obturator hernia. Embryology, anatomy, and surgical applications.

Obturator hernia is a rare clinical entity. In most cases, it produces small bowel obstruction with high morbidity and mortality. The embryology, anatomy, clinical picture, diagnosis, and surgery are presented in detail.

Small intestinal obstruction by remnants of the omphalomesenteric duct: findings on contrast enema.

OBJECTIVE: We reviewed the contrast enema examinations and medical records of six patients with small intestinal obstruction due to omphalomesenteric duct remnant to evaluate for characteristic imaging findings. RESULTS: In five out of the six patients the point of obstruction was demonstrated on the enema; in three patients, the characteristic "beak" of a volvulus was seen, either in the terminal ileum or cecum. In three patients, there was medial deviation of the cecum. CONCLUSION: The characteristic radiographic features of volvulus at the cecum or terminal ileum and medial deviation of the cecum should suggest persistence of an omphalomesenteric duct remnant as the etiology of obstruction in a child less than 2 years of age. The appearance of omphalomesenteric duct remnant obstruction on enema examination, though not specific, is characteristic and should be familiar to pediatric radiologists.

Meconium ileus and intestinal atresia in fetuses and neonates.

A collaborative study was performed to determine the different types and mechanisms of intestinal abnormalities during gestation. Cases had to fulfill one or more of the following three criteria: (1) meconium ileus, (2) intestinal stenosis or atresia, and (3) meconium peritonitis. Esophageal atresia, anorectal atresia, and abdominal wall defects were excluded. One hundred two cases were reviewed from the autopsies of 42 induced abortions, 22 stillborns, and the surgical findings in 38 neonates. Meconium ileus was detected mainly during the second trimester (28/38), and was associated with cystic fibrosis (15), fetal blood deglutition (4), infection (6), or multiple-abnormalities (10), in which three chromosomal aberrations were found. Intestinal stenosis or atresia was more commonly detected during the third trimester of gestation (46/56). Sixteen of the 30 duodenal malformations were associated with trisomy 21, whereas in the 26 small intestinal atresias, signs of distress or ischemia were most frequently detected. Only 8 of 25 meconium peritonitis cases were isolated. A total of 20 cystic fibrosis cases could be proved. In this series, functional abnormalities were observed predominantly in the second trimester and associated mainly with cystic fibrosis or amniotic fluid abnormalities. Anatomic lesions were commonly detected later on and associated with ischemic conditions, chromosomal aberrations, and even cystic fibrosis.

Three-dimensional ultrasound image of the fetal stomach: congenital duodenal obstruction in utero.

To quantitatively characterize the stereographic stomach configuration in utero, 11 fetuses (subject-group) with congenital duodenal obstruction, diagnosed antenatally, between 29 and 37 weeks' gestation were studied. Also included were 879 uncomplicated fetuses between 20 and 40 weeks' gestation as a control-group. Applying the algorithm which we devised: "Modeling a three-dimensional shape from a silhouette by detecting symmetry", we reconstructed the three-dimensional stomach configuration from a two-dimensional ultrasound image for each case. The statistical differences in two parameters, stomach volume and sphericity, between subject- and control-group fetuses, were analyzed using the Grubbs-Smirnoff's test at corresponding gestational ages. From 29 to 37 weeks' gestation, the stomach volume in the subject-group fetuses was found to increase greatly with advancing gestation, having significantly higher values than the control-group fetuses, whereas the stomach sphericity remained unchanged with no significant differences from the control-group fetuses. These findings indicate that the fetal stomach with duodenal obstruction maintains almost the same three-dimensional portrayal in utero as that seen in uncomplicated fetuses, although the stomach becomes extremely enlarged.

Fetal echogenic gut: a marker of intrauterine gut ischaemia?

The pathophysiological significance of fetal echogenic gut (FEG) is unknown. Our aim was prospectively to evaluate FEG in infants with intrauterine growth retardation (IUGR) and absent umbilical artery end diastolic flow velocities. Over a 15 month period, nine infants with FEG met these criteria. Nine infants who, on antenatal assessment, had demonstrated IURG and absent umbilical artery end diastolic flow velocities, but no evidence of FEG, were selected as case-controls. Gastrointestinal function was then prospectively evaluated in both groups after delivery. All liveborn infants received nasogastric feeds of breast milk by 8 days of age. All in the FEG group developed marked abdominal distension, large, bile stained, nasogastric aspirates, and constipation requiring rectal washouts. This led to a discontinuation of enteral feeds on one or more occasions. Two patients in the FEG group required water soluble contrast enemas in order to relieve intestinal obstruction. In the control group, 3/9 patients had abdominal distension, but no rectal washouts were given and enteral feeds were not interrupted. The median (range) time to tolerate full enteral feeds was 15 (7-32) days in the FEG group, compared with 4 (1-8) days in the control group. In the FEG group 5/6 patients required parenteral nutrition for 5-27 days. In the control group one patient required parenteral nutrition over a period of four days only. No child had necrotising enterocolitis or cystic fibrosis. When FEG is observed in the fetus with IUGR, problems with enteral feeding should be anticipated.