Neonatal Intestinal Obstruction Research Articles

Understanding Neonatal Bowel Obstruction: Building Knowledge to Advance Practice

Providing care to neonates with bowel obstruction requires a basic understanding of gastrointestinal (GI) anatomy and functional landmarks as well as knowledge of the pathophysiology associated with intestinal blockage. Early recognition and prompt diagnosis necessitate astute assessment of common presenting symptoms and accurate interpretation of diagnostic investigations. Initial medical management is focused primarily on gastric decompression and maintenance of fluid and electrolyte balance. This article describes features of the neonatal GI tract and discusses common causes of neonatal bowel obstruction.

Relative Contribution of Genetic and Nongenetic Modifiers to Intestinal Obstruction in Cystic Fibrosis

Neonatal intestinal obstruction (meconium ileus [MI]) occurs in 15% of patients with cystic fibrosis (CF). Our aim was to determine the relative contribution of genetic and nongenetic modifiers to the development of this major complication of CF. A total of 65 monozygous twin pairs, 23 dizygous twin/triplet sets, and 349 sets of siblings with CF were analyzed for MI status, significant covariates, and genome-wide linkage. Specific mutations in the CF transmembrane conductance regulator (CFTR), the gene responsible for CF, correlated with MI, indicating a role for CFTR genotype. Monozygous twins showed substantially greater concordance for MI than dizygous twins and siblings (P = 1 x 10(-5)), showing that modifier genes independent of CFTR contribute substantially to this trait. Regression analysis revealed that MI was correlated with distal intestinal obstruction syndrome (P = 8 x 10(-4)). Unlike MI, concordance analysis indicated that the risk for development of distal intestinal obstruction syndrome in CF patients is caused primarily by nongenetic factors. Regions of suggestive linkage (logarithm of the odds of linkage >2.0) for modifier genes that cause MI (chromosomes 4q35.1, 8p23.1, and 11q25) or protect from MI (chromosomes 20p11.22 and 21q22.3) were identified by genome-wide analyses. These analyses did not support the existence of a major modifier gene on chromosome 19 in a region previously linked to MI. The CFTR gene along with 2 or more modifier genes are the major determinants of intestinal obstruction in newborn CF patients, whereas intestinal obstruction in older CF patients is caused primarily by nongenetic factors.

Segmental dilatation of the intestine

Purpose The aim of this work is to discuss the pathogenesis of the segmental dilatation of the intestine (SDI) and to review its clinical presentation and the ways to confirm the diagnosis. Methods Eight cases of pathologically proven SDI from 1987 to 2003 were reviewed and discussed. There were 7 newborns and a 1-year-old boy. Results Our patients are 5 boys and 3 girls. In all cases, the diagnosis was not suspected before surgery. Two patients presented with a low neonatal bowel obstruction. Six patients were operated for omphalocele, which was the most frequent associated malformation. The SDI involved the ileum in all patients. The treatment consisted on a resection of the dilated segment with an end-to-end anastomosis. Histological examination demonstrated the presence of ganglion cells in all cases. The muscular layer was hypertrophied in two cases and very thin in one case. A heterotopic gastric mucosa was observed in one case. No anomalies were observed in 5 cases. The postoperative course was uneventful in 6 cases with a mean follow-up of 5 years. Conclusions Segmental intestinal dilatation is an exceptional pathology with an unknown etiology and a misleading clinical presentation. Several theories were proposed to explain this malformation; however, most authors are rather inclined to an embryological theory incriminating an extrinsic intrauterine intestinal compression. Most cases are neonatal discoveries. The clinical polymorphism and the lack of specificity of radiological investigations explain the difficulties to have a preoperative diagnosis. However, this difficulty is compensated by the favorable evolution after the resection of the dilated segment.

A Cook's tour around Hirschsprung's disease

Summary Hirschsprung's disease (HSCR) is a polygenic disease for which the most important genetic loci are now known. It affects about 1/5000 live births with a potentially lethal neonatal bowel obstruction. It may present later as intractable constipation, but this is rare. Treatment relies on timely diagnosis, which, in a minority will be facilitated by recognition of associated syndromes. The reference standard of diagnosis is the rectal suction biopsy, although ano-rectal manometry has a place, and the clinician should be able to recognise the appearance of HSCR on contrast enema. Treatment is surgical, by resection of the aganglionic segment. This can be done as a neonatal one-stage operation in most cases. Despite the success of surgery in saving life, continence and bowel habit are frequently disturbed, at least up until puberty.

Colour of bile vomiting in intestinal obstruction in the newborn: questionnaire study

Objectives To identify the colour that different groups of observers thought represented bile in a newborn's vomit.Design Questionnaires displaying eight colours (pale yellow to dark green).Setting General practices in Glasgow,...

Neonatal intestinal obstruction from a congenital hole in the mesentery report of a case

Neonatal intestinal obstruction from a congenital hole in the mesentery report of a case

Neonatal intestinal obstruction simulating meconium ileus in infants with long-segment intestinal aganglionosis: radiographic findings that prompt the need for rectal biopsy

The initial clinical presentation and radiographic finding of microcolon in children with long-segment intestinal aganglionosis involving the entire colon, ileum and sometimes the jejunum can mimic meconium ileus. This makes the diagnosis difficult for the radiologist and surgeon. To document and describe the clinical and radiographic findings in children with long-segment intestinal aganglionosis who are initially thought to have meconium ileus. We reviewed the cases of six neonates with long-segment intestinal aganglionosis presenting as meconium ileus at our institutions between 1978 and 2002. We examined the clinical presentation and the radiographic, surgical, and pathologic findings. In addition, 17 cases from the literature were identified and are included in the discussion. A total of 23 cases were reviewed. Right lower quadrant intraluminal calcifications were noted on abdominal radiographs in all six neonates of our series and were described in 13 of the 17 neonates reported in the literature. Similarly, a microcolon was present in five of the six neonates of our series and in 14 of 16 historical neonates (one not reported). In a neonate with small-bowel obstruction and a microcolon, the presence of right lower quadrant intraluminal calcifications should raise the suspicion of long-segment intestinal aganglionosis even if the operative findings are typical of meconium ileus and a biopsy should be performed.

Atresia of the colon

Background/Purpose Colonic atresia (CA) is one of the rarest causes of neonatal intestinal obstructions, and no large series can be reported. Therefore, we did perform a retrospective clinical trial to delineate our CA cases and carry out a literature survey. Methods We reviewed the charts of CA cases treated in our center between 1992 and 2002. We aimed to collect all reported cases in Medline, and personal communications with the authors of published series were used to reach the missing data. Results The chart review revealed 9 newborns with CA treated in our center (6 cases of type III, 2 cases of type II, and 1 case of type IV). These accounted for 3.7% of all gastrointestinal atresias managed in our center. Of the CA cases, 3 were isolated and 6 had at least one or more associated congenital anomalies. The preferred surgical technique at the initial treatment of CA was performing a proximal stoma and distal mucous fistula in an average of postnatal 59.4 hours. The literature survey enabled us to reach 224 cases of CA, including our cases. Conclusions Because of the low incidence of CA, delay in diagnosis and treatment may occur. The mortality is statistically higher when the surgical management is performed after 72 hours of age. However, the prognosis of CA is satisfactory if diagnosis and surgical management could be made promptly and properly.

Low RET mutation frequency and polymorphism analysis of the RET and EDNRB genes in patients with Hirschsprung disease in Taiwan

Hirschsprung disease (HSCR), or congenital intestinal aganglionosis, is a relatively common disorder characterized by the absence of ganglion cells in the nerve plexuses of the lower digestive tract, resulting in intestinal obstruction in neonates. Mutations in genes of the RET receptor tyrosine kinase and endothelin receptor B (EDNRB) signaling pathways have been shown to be associated in HSCR patients. In this study, we collected genomic DNA samples from 55 HSCR patients in central Taiwan and analyzed the coding regions of the RET and EDNRB genes by PCR amplification and DNA sequencing. In the 55 patients, an A to G transition was detected in two (identical twin brothers). The mutation was at the end of RET exon 19 at codon 1062 (Y1062C), a reported critical site for the signaling pathways. Single nucleotide polymorphisms (SNP) in exons 2, 7, 11, 13, and 15 of RET and exon 4 of EDNRB in the HSCR patients or controls were detected. The differences between patients and controls in allele distribution of the five RET polymorphic sites were statistically significant. The most frequent genotype encompassing exons 2 and 13 SNPs (the polymorphic sites with the highest percentage of heterozygotes) was AA/GG in patients, which was different from the AG/GT in the normal controls. Transmission disequilibrium was observed in exons 2, 7, and 13, indicating nonrandom association of the susceptibility alleles with the disease in the patients. This study represents the first comprehensive genetic analysis of HSCR disease in Taiwan.

A genetic mechanism for cecal atresia: the role of the Fgf10 signaling pathway

Background Intestinal atresia represents a significant surgically correctable cause of intestinal obstruction in neonates. Intestinal development proceeds as a tube-like structure with differentiation along its axis. As the intestine differentiates, the cecum develops at the transition from small to large intestine. Fgf10 is known to serve a key role in budding morphogenesis; however, little is known about its role in the development of this transitional structure. Here we evaluate the effect of Fgf10/ Fgfr2b invalidation on the developing cecum. Materials and methods Wild-type C57Bl/6, Fgf10 −/−, and Fgfr2b −/− embryos harvested from timed pregnant mothers were analyzed for cecal phenotype, Fgf10 expression, and differentiation of smooth muscle actin. Results Wt cecal development is first evident at E11.5. FGF10 is discreetly expressed in the area of the developing cecum at early stages of development. One hundred percent of Fgf10 −/− and Fgfr2b −/− mutant embryos demonstrate cecal atresia with absence of epithelial and muscular layers. The development of neighboring anatomical structures such as the ileocecal valve is not affected by Fgf10/ Fgfr2b invalidation. Conclusions FGF10 expression is localized to the cecum early in the normal development of the cecum. Fgf10 −/− and Fgfr2b −/− mutant embryos demonstrate cecal atresia with complete penetrance. Epithelial and muscular layers of the cecum are not present in the atretic cecum. The Fgf10 −/− and Fgfr2b −/− mutants represent a genetically reproducible animal model of autosomal recessive intestinal atresia.

Laparoscopic Duhamel Procedure: Management of 55 Cases

Introduction: Hirschprung disease (HD) is a common cause of neonatal intestinal obstruction and chronic constipation. Advances in instrumentation and in laparoscopic experience have made laparoscopic correction possible in recent years.Methods: Medical records of children who underwent a laparoscopic Duhamel (LD) procedure from February 1995 to June 2002 in our institution were reviewed. Operative technique was always the same, using 4 ports (5, 5, 10, and 12 mm) and wall suspension. We recorded birth weight, clinical features, age and weight at procedure, morbidity, and followup.Results: Fifty-five children, 46 boys and 9 girls, with a median birth weight of 3046 g, were operated on. They ranged in age from 25 days to 8 years (mean, 13 months). Four cases of enterocolitis and 16 cases of sepsis necessitated 20 colostomies and 5 ileostomies (total colonic aganglionosis). Average operative time was 140 minutes (range, 100–330 minutes). Four conversions were necessary. There were no deaths. There was 1 anas...

P0286 MECONIUM ILEUS IS ASSOCIATED WITH TRANSMURAL ILEAL LEIOMYOSITIS AND ILEITIS

Introduction: Meconium ileus (MI) is a form of neonatal intestinal obstruction which affects approximately 15% of infants with cystic fibrosis (CF). The aetiology of MI appears unrelated to the severity of impairment of CFTR mediated chloride current or indeed to pancreatic sufficiency / insufficiency. Distal ileal obstruction syndrome in CF is associated with a transmural inflammation of the ileum. We hypothesized that MI is an antenatal inflammatory disorder of the intestine. Methods: Full thickness ileal tissues were available from 6 infants with CF and neonatal MI (complicated = 3; simple = 3) requiring surgical intervention. Control intestine was available from infants with intestinal atresia requiring neonatal surgery. No infant had been fed or received pancreatic enzyme supplements. All were homozygous or compound heterozygotes for the ƒ’F508 mutation. Specimens were examined using routine H&E staining and immunocytochemical staining (antibodies against CD45ro which reacts with primed or memory T cells, the anti-pan T-cell marker CD3 the anti helper / inducer T cell marker CD4 and CD8 a marker for suppressor / cytotoxic T cells). The integrity of the muscularis and characterisation of mesenchymal cell phenotype was assessed using monoclonal antibodies against ƒñ-smooth muscle actin, desmin and vimentin Results: Florid mucosal lymphocytic ileitis was present in 6/6 which was associated with a transmural lymphocytic inflammatory process in all cases. Myofibroblast (actin +ve, desmin +ve, vimentin??Vve) proliferation was prominent within the submucosa in 6/6 and collagen deposition apparent in 2/6. The findings were similar to those described in DIOS, although of a lesser severity Conclusion: Severe MI in children with CF is associated with transmural lymphocytic ileitis and leiomyositis and myofibroblastic transformation. These findings support the notion that CF is a proinflammatory and profibrotic condition which starts in utero.

Intestinal atresia: management problems in a developing country.

Over a 13-year period, 24 children with intestinal atresia were managed at the Jos University Teaching Hospital, Jos, Nigeria. Intestinal atresia ranks as the second most common cause of neonatal intestinal obstruction (after anorectal malformation) in our hospital. Five children had duodenal obstruction (two atresia, two duodenal webs, one annular pancreas), 17 had jejunoileal atresia, and two had colonic atresia. Fourteen were boys, and 10 were girls (M:F: 1.17:1). The median age at presentation to the surgeon was 6 days (range: 1 day-12 years). The most common presenting features were bilious vomiting and abdominal distension. Six patients did not pass meconium within the first 24 h of birth. The median weight at presentation was 2.6 kg (range: 1.1 kg-5.0 kg). Seven patients (four with jejunoileal atresia and three with duodenal obstruction) had associated congenital anomalies. Diagnostic investigation was plain abdominal x-ray, showing double-bubble gas shadows in duodenal atresia and varying degrees of air-fluid levels in jejunoileal and colonic atresias. An upper gastrointestinal series was done in three patients and a barium enema in one. Retrocolic duodenojejunostomy was done for all patients with duodenal atresia and annular pancreas, duodenotomy and web excision for those with duodenal webs, and resection with end-to-end anastomosis for those with jejunoileal atresia. One child with atresia involving the whole ileum and the colon had a jejunorectal anastomosis, while the other child with colonic atresia had caecostomy followed later by ileorectal anastomosis. Ten neonates died, giving a mortality rate of 41.7%. Mortality from intestinal atresia is still high in our environment, due mainly to lack of neonatal intensive care facilities.

Double Intestinal Atresia in Imperforate Anus: A Diagnostic Conundrum for Paediatric Surgeons

Anal atresia, i.e. imperforate anus, is not an infrequently seen congenital anomaly with an average worldwide incidence of 1:5,000 live births.1 Congenital jejunoileal obstruction caused by atresia or stenosis is also a relatively common cause of neonatal intestinal obstruction, with an incidence of 1:400 to 1:1,500 live births.2,3 In contrast, colonic atresia is a rare cause of intestinal obstruction in neonates, with an incidence of about 1:20,000 live births.4 Most neonates with imperforate anus have one or more abnormalities that affect other systems. However, only two of 172 patients with imperforate anus were reported to have an intestinal atresia below the duodenum,5 and only two of 246 patients had an absent colon.3 It is thus extremely rare to see a patient with an imperforate anus and concurrent ileal stenosis and colonic atresia, as described by Asabe and Nagasaki in this issue of the Asian Journal of Surgery.6 The aetiology of intestinal or colonic atresia is not clearly understood. The current consensus is that there is an in utero mesenteric vascular catastrophe, such as volvulus, intussusception, incarceration, or strangulation secondary to hernias, and embolic or thrombotic events,7 which results in ischaemia and absorption of the necrotic bowel segment. The cause of imperforate anus is regarded as an event in the abnormal embryological development that results from defects in the shape of the dorsal (posterior) cloaca and an absence of the dorsal cloacal membrane.8 The lack of relationship between the causes of intestinal atresia and imperforate anus may, thus, explain the rarity of their co-existence. The level of rectal atresia in imperforate anus has traditionally been assessed by an invertogram, as in the reported case.6 In our institute, we rarely use the invertogram for the diagnosis of congenital anorectal malformation. Instead, magnetic resonance imaging (MRI) of the pelvis in these patients is

Swenson revisited: a one-stage, transanal pull-through procedure for Hirschsprung’s disease

Background: Hirschsprung’s disease is a common cause of neonatal intestinal obstruction. A variety of operations have been used to treat this neurogenic form of bowel obstruction. This report describes an experience with a 1-stage abdominal and transanal pull-through operation in 15 patients with rectosigmoid disease. Methods: Fifteen infants with Hirschsprung’s disease included 11 boys and 4 girls. Median age at diagnosis was 3 days, and median age of operation was 30 days. Diagnosis was confirmed by rectal biopsy. Biopsies to confirm the transition zone were performed intraabdominally through a left lower quadrent incision. A Swenson pull-through was performed via transanal dissection. Results: There were no instances of anastomotic leaks, wound infections or postoperative bowel obstructions. All patients survived. Two had postoperative enterocolitis. Twelve of 15 patients did well and had 2–3 bowel motions per day. One with Down’s syndrome had enterocolitis and required a colostomy. Two were lost to follow up. Conclusions: A one-stage transanal pull-through procedure in infancy is a safe alternative to staged procedures for Hirschsprung’s disease.

The impact of cystic fibrosis on neonatal intestinal obstruction: the need for prenatal/neonatal screening.

To determine the incidence of cystic fibrosis (CF) in neonates with intestinal obstruction (NIO) secondary to meconium ileus (MI), jejunoileal atresia (JA), meconium plug syndrome (MPS), volvulus (V), and meconium peritonitis (MP) and analyze the correlation of ultrasonographic (US) signs with CF in NIO with a prenatal diagnosis of intestinal anomaly, a prospective analysis of different types of NIO from 1990 to 1998 was undertaken. Immunoreactive trypsin measurement, genetic studies, and sweat tests were performed to confirm or rule out CF. Cases with prenatal diagnosis were analyzed for gestational age, dilated bowel, ascites, hyperechoic bowel, and calcifications. Of 80 neonates, 19 (24%) had CF: 2/33 (6%) JA, 6/14 (43%) MPS, 1/14 (7.1%) MP, 10/10 (100%) MI, and 0/9 V. Thirty (37.5%) had a prenatal diagnosis of an intestinal anomaly. The overall incidence of CF in NIO with a prenatal diagnosis of intestinal anomaly was 4/30 (13%), or 333 times the estimated risk of CF in the general population. A hyperechoic pattern with dilated bowel was associated with higher specificity for CF: 3/3 cases (100%), followed by hyperechoic bowel with ascites: 3/4 cases (75%). All babies with any type of NIO should thus be screened for CF. Prenatal screening for CF should be indicated in all pregnancies with US patterns of specific intestinal disorders.

Le syndrome du « petit côlon gauche » (à propos de deux cas)

Case reports. – Two newborns, one female and male were treated for neonatal bowel obstruction. A contrast enema led to the diagnosis of small left colon syndrome and treated those newborns successfully. Conclusion. – Small left colon syndrome is a very rare cause of neonatal bowel obstruction. The diagnosis and treatment are assured by a simple contrast enema.

Neonatal sigmoid volvulus: A complication of anal stenosis

Sigmoid volvulus is an exceptionally rare cause of intestinal obstruction in neonates. Only 7 cases have been reported in the English and French literature. The authors report a recent case of sigmoid volvulus in a neonate secondary to anal stenosis and review the diagnosis and management of this serious condition. The authors believe that carefully performed radiologic reduction is the preferable alternative to surgical intervention. J Pediatr Surg 36:1079-1081. Copyright © 2001 by W.B. Saunders Company.

Novel RET mutations in Hirschsprung's disease patients from the diverse South African population.

Hirschsprung's disease (HSCR) is a common cause of intestinal obstruction in neonates with an incidence of one in 5000 live births. The disease occurs due to the absence of parasympathetic neuronal ganglia in the hindgut, resulting in irregular or sustained contraction of the affected segment. DNA samples of 40 unrelated subjects with HSCR were subjected to mutation screening of the RET (REarranged during Transfection) proto-oncogene, the major susceptibility gene for HSCR. Five novel (V202M, E480K, IVS10-2A/G, D771N, IVS19-9C/T) and one previously described mutation (P973L) were identified. Only two of the mutation-positive patients (from different ethnic groups) displayed total colonic aganglionosis, and both were heterozygous for mutation D771N. The potential disease-causing mutations occurred in 20% of individuals, with more males (22.5% representing seven of 31 males) affected than females (12.5% representing one of eight females). This study represents the first comprehensive genetic analysis of this disease in the diverse South African population.

Analysis of the RET,GDNF, EDN3, andEDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease

BACKGROUNDHirschsprung disease (HSCR) is a frequent congenital disorder with an incidence of 1 in 5000 live births, characterised by the absence of parasympathetic intramural ganglion cells in the hindgut resulting...