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.     

Plain film diagnosis in meconium plug syndrome,meconium ileus and neonatal Hirschsprung's disease

Abdominal plain films of 133 neonates, with 82 cases of meconium plug syndrome (MPS), 27 cases of meconium ileus (MI) and 24 cases of neonatal Hirschsprung's disease (HD), were reviewed to assess the value of such radiographs for diagnosis. The radiographs were examined according to a list of 11 parameters. By using multivariate discriminant analysis, it appeared that 4 parameters i.e. dilatation of bowel loops, varying loop calibre, fluid levels and colonic gas were most important in discriminating among the three disorders. For each parameter the weight (in points) was derived. To classify patients, three group-scores had to be calculated: the group-score with the largest value indicated the most likely disorder. So in 99%, 88% and 63% of MPS, HD and MI, respectively, an accurate diagnosis could be predicted. The overall diagnostic accuracy was 89%. Such a diagnosis can be a sound basis for further investigation.Presented at the 27th Annual Meeting of German Society of Pediatric Radiology, September 1990, Bern, Switzerland     

T-tubes in the management of meconium ileus

Fifteen cases of meconium ileus (MI) were treated between 1986 and 1995; 7 responded to conservative treatment. Eight were operated upon, and comprise the study group. Six of the operated babies had no complications; 1 had meconium peritonitis with a pseudocyst and small-bowel atresia, and 1 had a volvulus of a small-bowel segment with necrosis. In all 8 cases a T-tube (TT) was left via an enterotomy; in the complicated cases the enterotomy was pre-anastomosic. The obstruction was relieved in all the babies, without any stoma or bowel resection in the uncomplicated cases. Two complications occurred: 1 patient died of r failure 1 month following surgery and another required a relaparotomy for lysis of adhesions. We conclude that TT ileostomy is an effective and safe procedure for uncomplicated cases of MI that do not respond to conservative therapy, as well as for complicated cases that need an anastomosis.     

Experience with primary laparoscopy-assisted endorectal pull-through for Hirschsprung’s disease

Abstract From October 1996 to July 2001, 61 patients received primary laparoscopy-assisted endorectal pull-through (LAERPT) for biopsy-proven Hirschsprungs disease (HD) at Mackay Memorial Hospital. The patients ages at operation ranged from 7 days to 8 years. The patients were followed up for an average of 3.8 years (range 1–5.5 years). Major complications occurred in five (8.1%) patients, of whom four had surgical complications (two instances of anastomotic leakage, one colon perforation, and one delayed formation of colovesical fistula) and one had postoperative Salmonella infection-induced colonic stricture. The five patients required a diverting colostomy and a redo-pull-through procedure. Postoperative enterocolitis developed in 13 (21%) infants. All of them had enterocolitis before the diagnosis of HD was established. The majority of the episodes of postoperative enterocolitis were mild and resolved spontaneously, but four neonates were hospitalized with significant systemic manifestations, and two of them needed a second operation to solve the problem. After primary LAERPT, stooling frequency in young infants declined rapidly from 10.5±3.2 to 4.4±1.6 bowel movements per day in the first 3 months and more slowly thereafter. Most of these infants had regular bowel movements one to two times per day 1 year after operation. Continence evaluation of the 43 patients over 3 years of age was graded as normal in 24 (56%) patients and good in 19 (44%) patients. Of the 13 patients between 1 and 3 years of age, 11 (85%) had regular normal stools, and two (15%) had occasional soiling. From the current study, the authors concluded that primary LAERPT is a safe and effective method of managing HD with excellent continence results. Considering the complications of surgery and postoperative enterocolitis, patients with long segment aganglionosis, severe enterocolitis, or prominently dilated colon are not good candidates for primary LAERPT.     

Segmental small-bowel volvulus not associated with malrotation in childhood

During the last 15 years, 38 children with volvulus of the intestine were treated in our hospital. Twenty-eight (73.7%) had midgut volvulus with malrotation, including 2 cases of isolated incomplete rotation of the duodenum; 10 (26.3%) had segmental volvulus of the ileum without malrotation, 3 of them assumed to be secondary to a duplication cyst, retroperitoneal band, or meconium plug; in the remaining 7 no causative abnormality was found. Nine were neonates, 8 of whom presented within the first 48 h after birth. The remaining patient was a 5-year-old girl. In all cases the correct preoperative diagnosis was not made, but obstruction or coiling of the distal ileum was demonstrated by contrast enemas in 5. Ischemic changes of the affected bowel were seen in 90% of the cases without malrotation. This contrasts with an 18% incidence in the cases with malrotation, and indicates the necessity of early diagnosis and operation. All patients required bowel resection and 2 died of sepsis after the operation, however, none suffered from short-bowel syndrome.     

Contrast enema depiction of small-bowel volvulus in complicated neonatal bowel obstruction

About one-half of patients with meconium ileus (MI) present with a complication such as volvulus, atresia, meconium peritonitis or giant cystic meconium peritonitis. The treatment of these complications requires surgery. However, the preoperative diagnosis of complicated MI is difficult. We describe two neonates with complicated small-bowel obstruction, one with MI related to cystic fibrosis and the other not related to cystic fibrosis. In both, contrast enema depicted a spiral appearance of the distal small bowel, which at surgery proved to be the result of volvulus associated with antenatal bowel perforation. This appearance of the small bowel on contrast enema in this clinical setting has not been previously described. The recognition of this spiral appearance of the distal small bowel suggests the need for surgery.This paper was presented at the 41st Congress of the European Society of Paediatric Radiology, Heidelberg, Germany, June 2004     

How accurate is prenatal sonography for the diagnosis of imperforate anus and Hirschsprung's disease?

Imperforate anus (IA) and Hirschsprung's disease (HD) are the commonest causes of coloanal obstruction in the neonate. We prospectively studied 15,092 pregnancies over a 4-year period to determine the accuracy of prenatal sonography (US) in diagnosing these conditions. Based on location and appearance, 13 fetuses were thought to have colonic dilatation on prenatal US. Nine of these had dilated bowel located in the pelvis. Postnatally, 7 were normal and 2 had an IA. Four fetuses were thought to have dilated proximal colon based on the peripheral location of the bowel loops in the abdomen. All 4 had normal colons, but had small-bowel obstruction postnatally (3 meconium ileus, 1 malrotation). Neonatal or fetal pathologic follow-up was obtained for all pregnancies. Twenty-three fetuses without dilated colon on US had coloanal obstruction (20 IA, 3 HD). Other anomalies had been sonographically evident in 17 of these fetuses (all with IA).Overall sensitivity and positive predictive value for sonographically dilated colon in predicting IA or HD were very low in this series (8% and 15%, respectively). No cases of HD were diagnosed prenatally. The incidence of associated anomalies was high in fetuses with IA. Dilated bowel loops outside the pelvis represented small bowel rather than colon, even if they were peripheral in location. These data suggest that prenatal US is of limited value for either diagnosing or excluding IA and HD.     

A prospective comparison of two regimes of bowel preparation for pediatric colorectal procedures: normal saline with added potassium vs. polyethylene glycol

We prospectively evaluated the safety and efficacy of total gut irrigation (TGI) using normal saline with added potassium (NS) and polyethylene glycol (PG) in patients undergoing a variety of colorectal procedures including single-stage pull-through for Hirschsprungs disease (HD). Fifty-four patients were randomly assigned into one of the two groups (NS or PG). Pre- and post-TGI weight, abdominal girth, and serum electrolytes were assessed. Patients were also evaluated for vomiting and abdominal discomfort. At surgery, bowel preparation was evaluated, and postoperative complications were recorded. Both NS and PG are safe and effective agents for TGI. No patient in either group had any clinical or statistically significant change in the evaluated parameters. The amount of NS required for TGI was significantly higher than PG, and PG was better tolerated than NS. All patients with HD completed TGI, although one patient with long segment HD had abdominal distension.     

The early diagnosis of Hirschsprung's disease

The majority of cases of aganglionosis present and can be diagnosed in the neonatal period. Enterocolitis is a common and fatal complication so that early diagnosis is important. The plain films and enema features of 47 cases diagnosed in the neonatal period were examined. Except when a bowel wash out had been given, all these cases showed obstructive fluid levels in the plain films and the common type of short segment aganglionosis gave an egg on end appearance of low small bowel obstruction in the inverted lateral view. The classical enema features take time to develop and the narrowed aganglio wic area is not always obvious but can be shown by a careful technique of slow filling with delayed films. A high degree of accuracy was obtained except in the cases of preliminary lavage, enterocolitis and meconium plug. To make an early correct diagnosis, it is important to have close correlation between clinicians, radiologists, and pathologists.     

Does the transition zone reliably delineate aganglionic bowel in Hirschsprung’s disease?

Background: Knowledge of the extent of aganglionic bowel is important for preoperative planning of trans-anal surgery in patients with Hirschsprungs disease (HD). Objective: To evaluate the accuracy of the transition zone, as identified by contrast enema study, for identifying the extent of aganglionic bowel. Materials and methods: A total of 32 patients with preoperative contrast enema studies and pathologic identification of aganglionic extent were reviewed. Two pediatric radiologists independently reviewed the contrast enema studies. The radiographic transition zone was compared to the pathological extent of aganglionic bowel. Results: Radiologist agreement of the site of transition zone on contrast enema was 90.6%. The concordance between the radiographic transition zone and pathologic extent of aganglionic bowel was 62.5%. The subgroup of patients with long-segment HD revealed a concordance of only 25%. Conclusion: Contrast enema delineation of the transition zone in HD needs to be regarded with caution. This is especially true in long-segment disease, where knowledge of the extent of aganglionic bowel is most crucial to surgical planning.     

Small bowel obstruction due to adhesions following neonatal laparotomy

The aim of this study was to assess the incidence of small bowel obstruction (SBO) due to adhesions following laparotomy in the neonatal period. This was a retrospective study of babies born between January 1998 and November 2003 who had a trans-abdominal procedure in the neonatal period in the John Radcliffe Hospital, Oxford, UK. Four hundred and fourteen patients had a trans-abdominal procedure during this period. The follow-up period ranged from 2 months to 6 years (median 39 months). Overall, twenty-three patients (6%) underwent subsequent laparotomy for SBO due to adhesions. Four patients (17%) who developed SBO due to adhesions had another adhesive obstruction requiring a further laparotomy. The majority of adhesions occurred within a year of the original procedure (87%). A single band caused the obstruction in eight patients (35%), multiple adhesions in six (26%), and dense adhesions in nine patients (39%). The incidence of SBO was highest following surgery for meconium ileus, followed by necrotizing enterocolitis (NEC), and malrotation. There were no deaths due to small bowel obstruction in this study.     

Fetal gastrointestinal MRI: all that glitters in T1 is not necessarily colon

Background

It has been described that both the colon and distal ileum present with a physiological hypersignal on T1-weighted sequences during the second and third trimesters of pregnancy because of their protein-rich meconium content, it was unclear whether the normal characteristics that have been described on fetal MRI can be applied to gastrointestinal (GI) obstructions.

Objective

To analyse the localisation value of T1 hypersignal within dilated bowel loops in fetuses with gastrointestinal tract obstruction.

Materials and methods

A retrospective 4-year multicentre study analysing cases of fetal GI obstruction in which MRI demonstrated T1 hypersignal content in the dilated loops. Data collected included gestational age (GA) at diagnosis, bowel appearance on US, CFTR gene mutations and amniotic levels of gastrointestinal enzymes. The suggested prenatal diagnosis was eventually compared to postnatal imaging and surgery.

Results

Eleven patients were included. The median GA at US diagnosis was 23 weeks (range 13–32). In eight cases there was a single dilated loop, while several segments were affected in three. The median GA at MRI was 29 weeks (range 23–35). One case presented with cystic fibrosis mutations. Final prenatally suspected diagnoses were distal ileal atresia or colon in nine cases and proximal atresia in two. Postnatal findings were proximal jejunal atresia in nine cases and meconium ileus in two. In five cases the surgical findings demonstrated short bowel syndrome.

Conclusion

In cases of fetal occlusion, T1 hypersignal should not be considered as a sign of distal ileal or colonic occlusion. The obstruction may be proximal, implying a risk of small bowel syndrome, which requires adequate parental counselling.     

Ileal meconium plugs.

Eleven cases of neonatal intestinal obstruction associated with a white ileal meconium plug are described; 6 of these presented with complications--such as, giant meconium pseudocyst, perforation, volvulus, or atresia. Most of these complications are presumed to have arisen during the intrauterine period. Only one patient could be relieved of the ileal meconium plug by enemas. The condition of ileal meconium plug is not as benign as a meconium plug in the rectum or distal colon. A plea is made to restrict the name meconium plug syndrome to cases in which the meconium plug is white and chalky and the consequent intestinal obstruction can be relieved by enemas, without evidence of intestinal dysfunction in later life.     

Hirschsprung's Disease: a Clinical and Pathologic Study in Iranian Constipated Children

Objective

Hirschsprung''s disease (HD) is a complex disorder resulting from absence of ganglion cells in the bowel wall leading to functional obstruction and bowel dilatation proximal to the affected segment. The aim of our study was to evaluate rectal biopsies from constipated children in different age groups to see in which age it is more likely to encounter HD to avoid unnecessary rectal biopsy.

Methods

Records of all children with chronic constipation undergoing a rectal biopsy to exclude HD were obtained from the files of Children''s Medical Center in Tehran, Iran. A detailed retrospective demographic review, including age of beginning of signs and symptoms was made of all cases.

Findings

Totally, 172 biopsies were taken from 168 children in a five year period, of which 127 cases (75%) had HD. The mean age of constipated patients at biopsy was 39 months and the mean age of patients with proven HD was 18 months. Males were affected more than females. Congenital anomalies associated with HD were found in 9.6%. In 85 (91%) cases constipation had begun in neonatal period.

Conclusion

Our data supports previous studies that if constipation begins after the neonatal period, the child is unlikely to have HD. In neonates delay in meconium passage is the most important clinical sign of HD.     

Ileal meconium plugs

Eleven cases of neonatal intestinal obstruction associated with a white ileal meconium plug are described; 6 of these presented with complications--such as, giant meconium pseudocyst, perforation, volvulus, or atresia. Most of these complications are presumed to have arisen during the intrauterine period. Only one patient could be relieved of the ileal meconium plug by enemas. The condition of ileal meconium plug is not as benign as a meconium plug in the rectum or distal colon. A plea is made to restrict the name meconium plug syndrome to cases in which the meconium plug is white and chalky and the consequent intestinal obstruction can be relieved by enemas, without evidence of intestinal dysfunction in later life.     

Long-term results of bowel function after treatment for Hirschsprung’s disease: a 29-year review

Although various surgical procedures have been described to treat Hirschsprung’s disease (HD), few studies have evaluated the long-term results of these children. The purpose of this study was to assess the long-term clinical outcome and bowel function of patients with HD. The hospital records of 259 consecutive patients with a confirmed histological diagnosis of HD during 1975–2003 were examined. Data was assessed for age at presentation, sex, clinical presentation, associated anomalies, level of aganglionosis, surgical procedures, complications and bowel function. Follow up was carried out by personal/telephone interviews with patients or their parents. Of the 259 patients with HD, 200 were males (77.2%) and 59 females (22.8%). Intestinal obstruction was the presenting feature in 147 patients (56.8%), intestinal perforation in 5 (1.9%), enterocolitis in 30 (11.6%) and constipation in 77 (29.7%). Thirty-nine patients (15.1%) had associated Down’s syndrome. Two hundred and nine patients (80.7%) had rectosigmoid disease, 31 (12%) had long segment disease and 19 (7.3%) had total colonic aganglionosis. Forty-three patients (16.6%) had preoperative enterocolitis. Primary colostomy was performed in 160 patients and a primary pull through in 90. Seven patients had a sphincteromyectomy for ultrashort HD. Two patients died prior to treatment. Various pull through procedures were performed in these patients. Postoperative complications included: pelvic abcess in 2, rectal stricture in 10, perianal excoriation in 7, anastomotic leak in 8, intestinal obstruction in 3, wound dehiscence in 1, stomal prolapse/stenosis in 5, rectovesical fistula in 2 and enterocolitis in 56. Five patients underwent a redo pull through and 46 required a post pull through sphincterectomy. At the time of follow-up, 27 were lost to follow-up, 9 died, 18 had permanent stomas and 4 were too young to assess bowel function. Of the remaining 194 patients, bowel function was normal in 132 (68%). Twenty patients (10.3%) had soiling and 42 (21.7%) had constipation requiring laxatives or enemas. There was no difference in bowel function in relation to type of pull through operation. Only 34% of patients with Down’s syndrome had normal continence. The majority of patients with HD continue to have disturbances of bowel function for many years before attaining normal continence.     

Pancreatic function testing in meconium disease in CF: two case reports

We report two infants with cystic fibrosis (CF), presenting with meconium ileus and meconium plug, who had no clinical or biochemical evidence of pancreatic insufficiency during infancy. They underwent pancreatic secretory function testing at 11 and 9 months of age, respectively. Both patients had sufficient lipase and colipase secretion to maintain normal digestion of fat, confirming that meconium disease in CF does not necessarily imply pancreatic insufficiency and the need for enzyme supplementation in infancy. Nonetheless, we documented markedly reduced enzyme secretion in both patients, implying a potential role for the pancreas in the pathogenesis of meconium disease, even when clinical pancreatic insufficiency is absent. In addition, our patient with meconium ileus had a severely limited fluid secretory capacity (10.3% of mean normal values). In contrast, the patient with the milder presentation of meconium plug had a far greater ability to secrete fluid (75% of mean normal), but had poorer pancreatic proteolytic activity. We suggest that impaired fluid secretion may be a very significant factor in the pathogenesis of meconium ileus, and we speculate that an inability to maintain sufficient intraluminal fluid relative to the degree of pancreatic proteolytic deficiency may more adequately explain the risk of occurrence and the severity of intestinal obstruction in CF than either factor alone.     

Primary resection and anastomosis for complicated meconium ileus: a safe procedure?

Various options are available for the surgical treatment of meconium ileus (MI). This paper examines the use of resection and primary anastomosis as the favoured option for the treatment of complicated meconium ileus. This was a retrospective study. All patients (13 children) with MI treated with primary resection and anastomosis (RA) in the 10-year period (1996–2005) at St Mary’s Hospital in Manchester were identified. The case notes were retrieved. The gestational age, type of surgery, length of bowel resection and complications were recorded. Out of 13 (3 males, 10 females), 7 had severely dilated bowels, 5 had perforation and 1 had volvulus. Mean length of bowel resection was 33.8 cm (range 20–50 cm). Overall survival in this group was 85%. Seven patients (54%) developed complications. Four (31%) had surgical complications: two anastomotic strictures with adhesions, one adhesive intestinal obstruction and one intra-abdominal drain retraction. Primary resection and anastomosis is a safe option in the treatment of complicated meconium ileus. It has the advantage of less hospital stay and avoids a secondary laparotomy for closure of the stoma.     

Association of Hirschsprung’s disease and anorectal malformation: a systematic review

Background

The association of Hirschsprung’s disease (HD) and anorectal malformation (ARM) is rare. The exact incidence of this association is not known but HD coexisting with ARM has been reported in 2.3 to 3.4 % of ARM cases. Most of the reported cases in the literature have been single case reports. The aim of this systematic review was to determine the incidence of HD associated with ARM and its relationship to other syndromes.

Methods

A systematic review of the literature was performed for the keywords “association of Hirschsprung’s disease and anorectal malformation”, “aganglionosis and anorectal malformation” as well as “congenital megacolon and anorectal malformation”. Resulting publications were reviewed for epidemiology, operative treatment and morbidity. Reference lists were screened for additional cases.

Results

A total of 38 articles reported 90 cases of HD coexisting with ARM from 1952 to 2013. Twenty eight articles reported 40 single case reports of this association. Ten articles reported 50 cases of HD in case series of 2,465 ARM patients, resulting in an incidence of 2 % of this association. Gender was reported in 63 cases, with 30 males (48 %) and 33 females (52 %). Associated syndromes were reported in 23 patients: Currarino syndrome in 11, Down syndrome in 8, Cat eye syndrome in 3 and Pallister-Hall syndrome in one case. Extent of aganglionosis was reported in 49 cases and included classical rectosigmoid disease in 36, long segment aganglionosis in 5, total colonic aganglionosis in 7 and total intestinal aganglionosis in one patient. In 35 % of the patients stoma was created in the aganglionotic region and failed to work. There was a median delay of 8 months for the diagnosis of HD from initial diagnosis of ARM. Various surgical techniques were employed for the pull-through operation for HD.

Conclusion

The review confirms that the recognition of HD is often delayed because of the initial diagnosis of ARM and the fact that the dysfunctional colostomy is usually proximal to the affected aganglionotic bowel. There is a high incidence of associated syndromes when HD coexists with ARM.     

Hirschsprung's disease in association with trisomy 21 and duodenal obstruction

The association of trisomy 21 and Hirschsprung's disease (HD) is well known. In a neonate, HD characteristically presents with delayed passage of meconium and/or intestinal obstruction. However, the presence of duodenal atreasia (DA), which may present similarly, can mask the associated HD. Over an 18-year period, 17 of 135 patients with HD had trisomy 21. Three of these 17 patients presented with duodenal obstruction in the newborn period — 2 had DA and 1 a complete duodenal web. One patient developed a perforation of the jejunum 7 days after laparotomy and duodenoduodenostomy and was found to have HD while the other 2 were later investigated because of persistent unresponsive constipation and confirmed to have HD at 1 and 2 years of age. In spite of associated Down's syndrome and DA, the possibility of HD should be considered in patients who have a complicated postoperative course or persisting abnormal stooling patterns.