Long-segment Hirschsprung's Disease Research Articles

Nationwide Outcomes of Immediate Versus Staged Surgery for Newborns with Rectosigmoid Hirschsprung Disease

PurposeDebate exists on whether patients with Hirschsprung Disease (HD) should undergo immediate resection during their newborn hospitalization or undergo a staged procedure. This study sought to compare postoperative outcomes among newborns receiving immediate versus staged surgery for rectosigmoid HD. MethodsThe Nationwide Readmission Database was queried (2016–2018) for newborns with HD who underwent surgical resection during their newborn hospitalization (immediate) versus planned readmission (staged). Those who did not receive rectal biopsy or had long-segment or total colonic HD were excluded. A propensity score-matched analysis (PSMA) of patients receiving either surgery was constructed utilizing >70 comorbidities. Outcomes were analyzed using standard statistical tests. Results1,048 newborns with HD were identified (56% immediate vs. 44% staged). Staged resection was associated with higher total hospitalization cost ($56,642 vs. $50,166 immediate), p = 0.014. After PSMA, the staged cohort was more likely to require home healthcare at discharge and experience unplanned readmission (40% vs. 23%). These patients experienced more gastrointestinal complications (40% vs. 22%) on readmission, especially Hirschsprung-associated enterocolitis (35% vs. 20%). ConclusionNewborns receiving staged procedures for HD experience higher rates of unplanned readmission complications and incur higher hospitalization costs. This information should be utilized to defray healthcare utilization costs for newborns with HD. Type of studyRetrospective Comparative. Level of evidenceIII.

Nationwide outcomes of newborns with rectosigmoid versus long-segment Hirschsprung disease

PurposeHirschsprung Disease (HD) is a common congenital intestinal disorder. While aganglionosis most commonly affects the rectosigmoid colon (rectosigmoid HD), outcomes for patients in which aganglionosis extends to more proximal segments (long-segment HD) remain understudied. This study sought to compare postoperative outcomes among newborns with rectosigmoid and long-segment HD. MethodsThe Nationwide Readmission Database was queried from 2016 to 2018 for newborns with HD. Newborns were stratified into those with rectosigmoid or long-segment HD. Those who received no rectal biopsy or pull-through procedure during their newborn hospitalization were excluded. A propensity score-matched analysis (PSMA) of newborns with either type of HD was constructed utilizing 17 covariates including demographics, comorbidities, and congenital-perinatal conditions. ResultsThere were 1280 newborns identified with HD (82% rectosigmoid HD, 18% long-segment HD). Patients with rectosigmoid HD had higher rates of laparoscopic resections (35% vs. 12%) and less frequently received a concomitant ostomy (14% vs. 84%), both p < 0.001. Patients with long-segment HD were more likely to have a delayed diagnosis (12% vs. 5%) and require multiple bowel operations (19% vs. 4%), both p < 0.001. They experienced higher rates of complications, including small bowel obstructions (10% vs. 1%), infections (45% vs. 20%), and Hirschsprung-associated enterocolitis (11% vs. 5%), all p < 0.001. After PSMA, newborns with long-segment HD were found to have a longer length of stay and higher hospitalization costs. ConclusionNewborns with long-segment HD experience significant delays in diagnosis, surgery, and complications compared to those with rectosigmoid HD. This information should be utilized to improve healthcare delivery for this patient population. Type of StudyRetrospective comparative study. Level of EvidenceIII.

A Novel Method for Identifying the Transition Zone in Long-Segment Hirschsprung Disease: Investigating the Muscle Unit to Ganglion Ratio.

Hirschsprung disease (HSCR) is characterised by the absence of enteric ganglia along variable lengths of the distal bowel. Current gold standard treatment involves the surgical resection of the defective, aganglionic bowel. Clear and reliable distinction of the normoganglionated bowel from the transition zone is key for successful resection of the entire defective bowel, and the avoidance of subsequent postoperative complications. However, the intraoperative nature of the tissue analysis and the variability of patient samples, sample preparation, and operator objectivity, make reproducible identification of the transition zone difficult. Here, we have described a novel method for using muscle units as a distinctive landmark for quantifying the density of enteric ganglia in resection specimens from HSCR patients. We show that the muscle unit to ganglion ratio is greater in the transition zone when compared with the proximal, normoganglionated region for long-segment HSCR patients. Patients with short-segment HSCR were also investigated, however, the muscle unit to ganglion ratio was not significantly different in these patients. Immunohistochemical examination of individual ganglia showed that there were no differences in the proportions of either enteric neurons or glial cells through the different regions of the resected colon. In addition, we identified that the size of enteric ganglia was smaller for patients that went on to develop HSCR associated enterocolitis; although the density of ganglia, as determined by the muscle unit to ganglia ratio, was not different when compared with patients that had no further complications. This suggests that subtle changes in the enteric nervous system, even in the “normoganglionated” colon, could be involved in changes in immune function and subsequent bacterial dysbiosis.

Pediatric Home Parenteral Nutrition in France: A six years national survey

Home Parenteral Nutrition (HPN) is the cornerstone management for children suffering from chronic intestinal failure (CIF). In France, HPN is organized from a network of 7 certified centers located in University Hospitals spread across the national territory. This study aims to review the data involving children on HPN over a 6-years period in France to outline the global and continuous improvement in care.This cross-sectional study included all children enrolled in any of the 7 French HPN certified centers from January 1st, 2014 to December 31st, 2019. Data was recorded from annual databases provided by each center regarding: age at inclusion, indication and duration of HPN, type of intravenous lipid emulsion (ILE), outcome [PN weaning off, transfer to adult center, death, intestinal transplantation (ITx)], rate of catheter-related bloodstream infections (CRSBIs) for 1000 days of HPN, Taurolidine lock procedure (TLP) use and prevalence of cholestasis defined as conjugated bilirubin ≥20 μmol/l.The number of patients increased by 43.6% from 268 in 2014 to 385 in 2019. According to the year of follow up, the indications for HPN were short bowel syndrome (SBS) (42.3-46.6%), congenital enteropathies (CE) (18.5-22.8%), chronic intestinal pseudo-obstruction syndrome (CIPOS) (13.0-16.3%), long segment Hirschsprung's disease (LSHD) (9.7-13.3%), Crohn's disease (CD) (1.6-2.6%) and other non-primary digestive diseases (NPDD) such as immune deficiency, cancer or metabolic disease (4.0-9.2%). The median age at discharge on HPN decreased from 11.7 months in 2014 to 8.3 months in 2019 (p < .001). By December 31st, 2019, 44.8% of children had left the HPN program after a median duration ranging between 39.9 and 66.4 months. Among these patients, 192 (74.2%) were weaned off PN (94.7% SBS), 41 (15.8%) were transferred to adult centers for CIPOS (42%), SBS (31%) or CE (27%), 21 died (8.1%) - mostly in relation to cancer or immune deficiency - and 5 were transplanted (1.9%): 4 underwent combined liver-intestine transplantation for LSHD (n = 2), SBS, CE and one multivisceral Tx for CIPOS. The use of a composite fish-oil based ILE increased from 67.4% in 2014 to 88.3% in 2019 (p < 0.001). CRBSIs dropped from 1.04 CRSBIs per 1000 days HPN in 2014 to 0.61 in 2019 (p < 0.001) while meantime, the percentage of children receiving TLP increased from 29.4% to 63.0% (p < 0.001). The prevalence of cholestasis (conjugated bilirubin ≥ 20 μmol/l) was low and stable between 4.1 and 5.9% of children during the study period.In France, the number of children enrolled in a HPN program continuously increased over a 6 years period. SBS is the leading cause of CIF requiring HPN. The rate of CRBSIs dropped dramatically as the use of TLP increased. Mortality rate was low and mainly in relation to the underlying disease (cancer, immune deficiency). Cholestasis and intestinal Tx remained very rare.

Risk factors for short-term complications graded by Clavien-Dindo after transanal endorectal pull-through in patients with Hirschsprung disease

Transanal endorectal pull-through (TERPT) is a common surgical procedure in Hirschsprung disease (HD). Aim of this study was to gain insight in the prevalence and severity of postoperative complications within 30-days after TERPT and to identify patient and perioperative characteristics, associated with the development of short-term postoperative complications. This study retrospectively analyzed data of children with HD and treated with TERPT in our center between 2005 and 2020. Complications emerging within 30-days after surgery were assessed using Clavien-Dindo (CD). Patient and perioperative characteristic as predictor of a complication were tested using (multivariable) logistic regression analysis. Twenty-two of 106 (21%) included patients (17 transanal only; 77 laparoscopic-assisted; 12 laparotomy-assisted) developed 35 complications, including two patients (1.8%) that deceased. We suspect postoperative rectal irrigation leading to perforation as cause of death in both patients. Six patients (6%) had a minor (CD<3) and 16 patients (15%) a major (CD≥3) complication. Anastomotic leakage (n=4, 11%), abdominal abscess (n=3, 9%) and anastomotic stricture (n=3,9%) occurred most frequently. Predictive factors for developing a complication were older age at time of surgery (OR 1.03 1.00-1.01, p=0.041), laparotomy-assisted surgery (OR 12.65, CI 1.712-93.07, p=0.013) and long-segment HD (OR 4.09 CI 1.09-15.39, p=0.037). We found a CD-graded short-term postoperative complication rate of 21% following TERPT, reporting anastomotic complications most frequently. In patients at risk a diverting stoma should be considered. We suspect postoperative rectal irrigation being the cause of two lethal perforations. Therefore, we recommend to place a rectal transanastomotic tube in all patients receiving TERPT. Level III.

Laparoscopic histological mapping for the determination of the length of aganglionic segment in children with Hirschsprung disease.

Modern approach to the surgical treatment of Hirschsprung's disease (HD) consists in the earliest possible repair and reduction of the number of surgical interventions. Primary one-stage transanal endorectal pull-through (TEPT) technique requires preoperative determination of the length of aganglionic segment. The efficacy of the standard method - contrast enema - is questionable in patients with a poorly defined transitional zone. To present the proposed laparoscopic method for the management pathway in patients with HD, in whom the determination of the length of aganglionic segment with contrast enema was not possible. A retrospective analysis of the diagnostic and therapeutic management employed in 14 patients, from 2 weeks to 55 months of age, with diagnosed HD, treated between January 2013 and May 2020. Laparoscopic histological mapping was performed with the use of 3 laparoscopic ports of 3-5 mm diameter. In all patients, laparoscopic mapping allowed for the determination of the length of aganglionic segment and the mode of surgical treatment. Four children with determined short-segment disease underwent TEPT, while 2 underwent temporary colostomy formation using the Duhamel-Martin-Ikeda method. Five patients with long-segment HD underwent laparoscopic-assisted TEPT. One patient with long-segment disease was treated with a temporary double-barrel colostomy and definitive surgery was performed 3 months later using the Duhamel-Martin-Ikeda method. In 2 patients with an initial diagnosis of HD established using current diagnostic pathway, HD pathology was later excluded based on the results of laparoscopic mapping and repeat rectal suction biopsy. No complications related to the laparoscopic procedure were identified. The method of laparoscopic mapping is effective in the determination of the length of aganglionic segment in children with diagnosed HD. In doubtful cases, it can be the preferred option in establishing the final mode of surgical treatment.

Predictive factors for the development of postoperative Hirschsprung-associated enterocolitis in children operated during infancy

The risk factors for postoperative Hirschsprung-associated enterocolitis (HAEC) are still incompletely understood, especially age at which surgery is performed. Therefore, the aim of this study was to identify the risk factors for the development of postoperative HAEC in children operated during infancy. Thirty-five children who had undergone radical surgery for Hirschsprung disease (HD) during infancy were included in the study. They were divided into two groups; those who developed postoperative HAEC (HAEC, 14 patients) and those who did not (no HAEC, 21 patients). Their medical records were retrospectively reviewed for clinical details. Developing postoperative HAEC was significantly associated with long-segment HD (p = 0.020) and the age at radical surgery (p = 0.0241). No other factors had a significant association with postoperative HAEC. In the patients who developed postoperative HAEC (n = 14), those with Trisomy 21 had significantly longer hospitalizations than those without. Patients with long-segment HD had a higher hospitalization rate than those with short-segment HD. This study clearly showed that long-segment HD and older age at radical surgery are risk factors for developing postoperative HAEC.

Transumbilical enterostomy for Hirschsprung's disease with a two-stage laparoscopy-assisted pull-through procedure.

BACKGROUNDA one-stage laparoscopic operation has recently been considered a favorable option for the management of patients with Hirschsprung's disease (HD) due to its superior cosmetic results. One-stage transanal endorectal pull-through for the treatment of rectosigmoid HD has been widely used in newborns without complications. However, enterostomy is required in some HD cases for enterocolitis and dilated colon. Our transumbilical enterostomy (TUE) and two-stage laparoscopy-assisted anorectoplasty were effective and achieved a similar cosmetic effect to one-stage laparoscopy on the abdominal wall in patients with anorectal malformation, but the effect in patients with HD is unclear.AIMTo evaluate the safety, efficacy and cosmetic results of TUE in two-stage laparoscopy-assisted pull-through for HD.METHODSFrom June 2013 to June 2018, 53 patients (40 boys, 13 girls; mean age at enterostomy: 5.5 ± 2.2 mo) who underwent enterostomy and two-stage laparoscopy-assisted pull-through for HD with stoma closure were reviewed at our institution. Two enterostomy approaches were used: TUE in 24 patients, and conventional abdominal enterostomy (CAE) in 29 patients. Eleven patients with rectosigmoid HD had severe preoperative enterocolitis or a dilated colon. 26 patients had long-segment HD, and 16 patients had total colonic aganglionosis (TCA). The patients with left-sided HD underwent the two-stage laparoscopic Soave procedure, and the patients with right-sided HD and TCA underwent the laparoscopic Duhamel procedure. Demographics, enterostomy operative time, complications and cosmetic results were respectively evaluated.RESULTSThere were no differences between the groups with respect to gender, age at enterostomy, weight and clinical type (P > 0.05). No conversion to open technique was required. Two patients experienced episodes of stomal mucosal prolapse in the TUE group and 1 patient in the CAE group (8.33% vs 3.45%, P > 0.05). No parastomal hernia was observed in either of the two groups. Wound infection at the stoma was seen in 1 case in the TUE group, and 2 cases in the CAE group (4.17% vs 6.90%, P > 0.05). No obstruction was noted in any of the patients in the TUE group, whereas obstruction was found in 1 patient in the CAE group. Enterocolitis was observed in 3 and 5 patients in the TUE and CAE group, respectively (12.50% vs 17.24%, P > 0.05). There was no significant difference between the TUE group and CAE group in terms of the incidence of soiling and constipation (P > 0.05). The cosmetic result using the scar score in the TUE group was better than that in the CAE group (6.83 ± 0.96 vs 13.32 ± 1.57, P < 0.05).CONCLUSIONTUE is a safe and feasible method for the treatment of HD, and the staged enterostomy and two-stage laparoscopy-assisted pull-through achieved a similar cosmetic effect to the one-stage laparoscopic procedure.

Hirschsprung disease: Insights on genes, penetrance, and prenatal diagnosis.

The objective of this mini-review is to provide insights on the advances in the understanding of the genetic variants associated with different manifestations of Hirschsprung disease, which may present with a range of denervation from a short segment of colon to total colonic and small bowel or extensive aganglionosis. A recent article in this journal documented potential gene variants involved in long-segment Hirschsprung disease in 23 patients. Gene variants were identified using a 31-gene panel of genes related to Hirschsprung disease or enteric neural crest cell development, as previously reported in the literature. The study identified potentially harmful variants in eight genes across 13 patients, with a detection rate of 56.5% (13/23 patients). Five patients had pathologic variants in RET, NRG1, and L1CAM, and the remainder were considered variants of unknown significance. The authors attempted prenatal diagnosis of Hirschsprung disease utilizing an amniocentesis sample obtained for advanced maternal age in a family with a known deleterious RET mutation, manifested in the father (long-segment Hirschsprung disease) and older daughter (total colonic aganglionosis). The fetus had the same RET variant but, after several years of follow-up, has not developed any symptoms of Hirschsprung disease, supporting the conclusion that this RET mutation is an autosomal dominant gene with incomplete penetrance. This experience suggests that genetic counseling is appropriate to carefully assess the justification of prenatal testing, especially, when the phenotype of long-segment Hirschsprung disease is so variable and the disease is potentially curable with surgery.

Laparoscopic Soave procedure for long-segment Hirschsprung's disease - single-center experience.

IntroductionHirschsprung’s disease (HD) is one of the most common and severe diseases treated in pediatric surgery. Since the introduction of the laparoscopic technique into pediatric surgery, laparoscopic-assisted radical surgery for HD has demonstrated unique advantages. Long-segment and total-colon HD are the best indications for laparoscopic-assisted surgery.AimTo summarize clinical experience of the laparoscopic Soave procedure for long-segment HD in a single center.Material and methodsThe data of children with long-segment HD who underwent the laparoscopic Soave procedure in our department from January 2013 to May 2018 were reviewed. The clinical features, surgical procedures and follow-up results were summarized and analyzed.ResultsThirty-one children underwent the laparoscopic Soave procedure; none of them were converted to open surgery. The average hospitalization time was 8.7 days after the operation, and no immediate postoperative complications occurred. There was no recurrence of constipation. Six (19.3%) cases were complicated with HD associated enterocolitis in the first 3 months postoperatively; 5 (16.1%) cases had soiling in the first year. There were 0 cases of adhesive bowel obstruction, 0 cases of anastomotic stenosis, and 0 cases of constipation.ConclusionsA small volume centre may achieve satisfactory results for long-segment HD. The laparoscopic Soave procedure is a minimally invasive, safe and effective treatment.

Ethnic variations in the childhood prevalence of Hirschsprung disease in New Zealand.

Epidemiological studies have suggested that there may be ethnic variations in the prevalence of Hirschsprung disease (HD) but no study has systematically investigated this issue or potential ethnic variations in the extent of aganglionosis in HD. This study aimed to investigate this in a childhood population in New Zealand. A multicentre national retrospective review was undertaken of all newly diagnosed cases of HD at each of the four paediatric surgical centres in New Zealand over a 16-year period (January 2000 to December 2015). Original histological, radiological and operative reports were obtained and analysed. Self-identified ethnicity was recorded from admission documents. Birth statistics were obtained from Statistics New Zealand. A total of 246 cases of HD were identified. The prevalence of HD was 1:3790 live births for European, 1:6610 among Māori, 1:1834 among Pacific Peoples, 1:3847 among Asian and 1:5694 among Middle Eastern. The prevalence of HD was statistically significantly greater in Pacific Peoples (P < 0.0005). The proportion of children with long-segment HD was also significantly greater in Pacific and Asian populations than others (P = 0.04). These findings were not due to differences in the proportion of familial cases of HD among the different populations. The prevalence and phenotype of HD varies significantly between different ethnic groups within New Zealand. This may well be related to variations in the frequencies of HD-associated gene mutations within these populations.

Nutritional management in a total colonic aganglionosis with ileostomy: case report

Long segment Hirschsprung disease (LSHD) or total colonic agangliosis (TCA) is one of the rarest forms of Hirschsprung disease (HD). It was among high mortality diseases since near future. Better understanding of clinical symptoms, early diagnosis with the help of radiologic imaging, development of proper surgical techniques and methods for dietary supplementation have decreased mortality and morbidity in time. Her we present a mature newborn male patient suffering from abdominal distention and vomiting. HH was suspected and agangliosis was determined in rectal biopsy specimens. Transanal endorectal pull through (TEPT) was performed and TCA was diagnosed from biopsy specimens taken during TEPT. Ileal pull through and ileostomy was performed and metabolic problems occurring due to loss from ileostomy after operation was managed with collaboration of department of metabolic diseases. Patients who are operated for definitive operations for TCA and who have ileostomy are prone to water-electrolyte imbalance and have high morbidity. In order to decrease mortality and morbidity, enteral nutrition and multidisciplinary approach are important.

Shah-Waardenburg syndrome

Introduction: Shah-Waardenburg syndrome (SWS) is WS associated with Hirschsprung's disease. It is very rare with Aim: The aim of this study was to describe our experience with SWS. Methods: The records of patients admitted to our tertiary care pediatric surgical institute between 2011 and 2015 were retrospectively reviewed. All patients with histopathological diagnosis of Hirschsprung's disease were studied. SWS was identified as per the diagnostic criteria proposed by the Waardenburg consortium. Results: There were 202 patients diagnosed with Hirschsprung's disease during 5 years. We identified three male patients fulfilling the diagnostic criteria for WS (white forelock with the involvement of eyebrows and eyelashes, pigmentary disturbances of the iris, and broad high nasal root). All presented in the neonatal period with clinical and radiological features of small bowel obstruction. Family history (sibling) of SWS was seen in one of the neonates. Exploration revealed distended jejunal and ileal loops in all of them; colon contracted and unused (microcolon). Multiple seromuscular biopsies were performed from colon in all 3 neonates. Initial ileostomy was performed in case 2 and case 3. In case 1, the right transverse colostomy was done primarily as total colonic aganglionosis (TCA) was not expected (absence of transition zone in the early neonatal period) and also frozen section facilities were not available. It was followed by ileostomy (second surgery) about 15 cm proximal to the ileocecal junction as colostomy was not functioning adequately. The histopathology of gut biopsies revealed aganglionosis in the entire colon, confirming the diagnosis of TCA in all the cases. Out of three patients in our study, two neonates died in the postoperative period, while third case succumbed due to severe episodes of ileostomy diarrhea. Conclusion: A patient of WS presenting with neonatal intestinal obstruction or constipation since birth should be evaluated on the lines of SWS . Patients with SWS have a higher incidence of TCA or long-segment Hirschsprung's disease. In SWS when transition zone is not clear, an ileostomy would be preferable in view of nonavailability of frozen section.

Primary Laparoscopic Deloyers Procedure for Long-Segment Hirschsprung’s Disease

Objective: To treat long-segment Hirschsprung's disease (HD) in children using a laparoscopic technique and discuss the surgical method and effect of this procedure. Methods: Thirteen children with long-segment HD, who were admitted for treatment from June 2008 to October 2016, were treated with Swenson’s radical operation for HD using laparoscopic Deloyers procedure. The difficult portions of the operation included the dissection of the blood vessels of the mesocolon using a harmonic scalpel and the counterclockwise rotation of the ascending colon. The observation indexes included the surgical times, blood loss volume, postoperative complications, and stool excretion. Results: The 13 surgeries were all completed using laparoscopy. The surgical times ranged from 142 minutes to 208 minutes, and the mean surgical time was 168 minutes. The largest intraoperative blood loss volume was 28 ml, and the other intraoperative blood loss volumes were all less than 10 ml. The postoperative complications included anastomotic leakage, enteritis, perianal skin erosion, and encopresis. One child with anastomotic leakage underwent an enterostomy and recovered after the stoma was closed two months later. All the 13 children returned to the hospital for further medical consultation after the surgery. The follow-up visits were conducted for a period of 3-48 months. The children defecated two to eight times each day after the surgery. Neither fecal incontinence nor constipation occurred in the children. Conclusion: The laparoscopic deloyers procedure for longsegment HD is safe, feasible, and effective.

NOTES for Surgical Treatment of Long-Segment Hirschsprung's Disease: Report of Three Cases

The aim of this study was to evaluate the feasibility of natural orifice translumenal endoscopic surgery (NOTES(®); American Society for Gastrointestinal Endoscopy [Oak Brook, IL] and Society of American Gastrointestinal and Endoscopic Surgeons [Los Angeles, CA]) for the surgical management of long-segment Hirschsprung's disease. Three children with long-segment Hirschsprung's disease were enrolled in this study. In all three cases the transition zone was proximal to the splenic flexure, with too long a segment of distal aganglionic colon to perform an isolated transanal pull-through. Our procedure was as follows. A rectal mucosectomy was performed starting 0.5 cm proximal to the dentate line and extending proximally to the level of the intraperitoneal rectum. Three cannulas were inserted through the muscular sleeve into the abdominal cavity. The mesocolon, lateral peritoneum, and greater omentum were ligated and divided in order to mobilize the colon. After mobilization, the aganglionic distal bowel segment was pulled through the anus and resected. Finally the colo-anal anastomosis was created. All three operations were successfully performed without intraoperative complications. No additional ports or conversion to an open procedure was required. The operative times were 242, 195, and 174 minutes, respectively. All three children were discharged without complication with follow-up for at least 1 year. One year after the procedure the 3 patients were stooling one to three times per day, with no fecal soiling or constipation. This NOTES procedure may be a safe and feasible option for the surgical treatment of long-segment Hirschsprung's disease.

Hirschsprung’s disease associated with Down syndrome: a meta-analysis of incidence, functional outcomes and mortality

Down syndrome (DS) is the most frequent chromosomal abnormality associated with Hirschsprung's disease (HD). It has often been suggested that this association results in poorer outcomes with regard to postoperative complications, continence and mortality. On the other hand, the results after surgical treatment of HD in patients with DS are reportedly similar to those in cases with HD alone. The objective of this study was to determine the incidence of DS in cohorts with HD, and to compare pre-/postoperative complications, functional outcome and mortality between cohorts with and without coexisting DS. A systematic literature-based search for relevant cohorts was conducted using multiple online databases. The number of DS cases in HD cohorts was recorded and data on pre-/postoperative complications, functional outcome and mortality were extracted. Pooled odds ratios with 95% confidence intervals were calculated using meta-analysis methodology. Sixty-one articles met defined inclusion criteria, comprising data from 16,497 patients with HD. The overall incidence of DS among them was 7.32%. Vice versa, the incidence of HD in 29,418 patients with DS was 2.62%. There were no significant differences regarding the male-to-female ratio between cohorts with and without coexisting DS (4:1 vs. 3:1 respectively; P = 0.5376). The rate of additional comorbidities was significantly higher in HD associated with DS (P < 0.0001). Recto-sigmoid HD was in both cohorts the most common type of HD (P = 0.8231). Long-segment HD was significantly more frequent in HD with coexisting DS (P = 0.0267), while total colonic aganglionosis occurred significantly more often in HD without DS (P = 0.0003). There were no significant differences in preoperative constipation/obstruction (P = 0.5967), but the rate of preoperative enterocolitis was significantly higher in HD associated with DS (P = 0.0486). Postoperative complications such as recurrent enterocolitis (P = 0.0112) and soiling (P = 0.0002) were significantly more frequent in HD with coexisting DS. Although not statistically significant, fecal incontinence (P = 0.1014) and persistent constipation (P = 0.1670) occurred more often after surgical treatment of HD with DS. The mortality rate was significantly higher in HD associated with DS (P < 0.0001). The association of HD with DS is well-recognized with an incidence of 7.32%. A large number of patients with DS continue to have persistent bowel dysfunction after surgical treatment of HD. Our data provide strong evidence that the coexistence of HD and DS is associated with higher rates of pre-/postoperative enterocolitis, poorer functional outcomes and increased mortality.

Proximal Megacolon in an Adult

A44-year-old woman, born and residing in the United States, presented with medically nonresponsive chronic constipation, requiring 1 gallon of polyethylene glycol electrolyte solution weekly to induce bowel movements. She consistently experienced incomplete evacuation. She was hospitalized once for suspected sigmoid volvulus that spontaneously resolved. Physical examination showed a distended tympanitic abdomen with palpable stool in the left lower quadrant. Rectal examination revealed a high resting anal sphincter tone and no coordinated perineal descent during simulation of defecation; these features were confirmed on anorectal manometry (high squeeze anal sphincter pressure and requirement of 200 g to facilitate 50-mL balloon evacuation from the rectum). Gastric emptying was normal, and colonic transit was delayed. She was diagnosed with pelvic floor dyssynergia and symptoms improved somewhat after biofeedback therapy. A plain abdominal radiograph (Figure A) showed a dilated colon, confirmed on computerized tomography scan. Sagittal views of the abdominal computerized tomography (Figure B) showed an elongated, dilated proximal colon with a decompressed rectum. Direct endoscopic visualization of the intersection of the dilated and nondilated colon showed no mass or constrictions. Because of persistent symptoms and megacolon, she underwent colectomy at another hospital. Figure C shows the resected specimen with a dilated ascending and transverse colon, normal-caliber descending colon and rectum, and no constricted transition zone between dilated and normal-caliber segments. No pathologic examination of the colon was available. The enteric nervous system is derived from vagal and sacral neural crest cells. Vagal neural crest cells migrate caudally through the entire length of the gastrointestinal tract and provide the majority of neurons and glia. The sacral neural crest cells migrate rostrally and contribute to the innervation of the distal colon and rectum. Colonic dysganglionosis presents as a continuous spectrum, ranging anatomically from hypoganglionosis in colonic sections of different lengths and distributions to a localized constriction with proximal dilatation in Hirschsprung disease (HD). Hypoganglionosis is a decrease vs a complete lack of ganglia, and it can present as localized or generalized megacolon, or it may occur concomitantly with HD. These disorders present with long-term constipation refractory to medical therapy. Although approximately 95% of HD cases are diagnosed before the age of 5, less severe cases may present after 10 years of age and are considered adult HD.

Subtotal colectomy with a single-incision laparoscopic surgery technique in children with long-segment Hirschsprung disease and allied disorders

Over the last 15years, the laparoscopic-assisted endorectal pull-through procedure has become the standard treatment for Hirschsprung disease in many centers around the world. Recently, single-incision laparoscopic techniques have drawn more attention. We describe a single-incision laparoscopic surgery (SILS) subtotal colectomy to treat long-segment Hirschsprung disease (LSHD) and Hirschsprung disease allied disorder (HAD) in children. A total of 22 patients who underwent SILS subtotal colectomy, including three patients with a failed first surgery, were included in this retrospective study. For SILS, a 1-cm skin incision was first made below the umbilical margin and a 5-mm trocar was placed into the abdomen after incising the peritoneum. Two 5-mm trocars were then placed on both sides of the umbilicus. Subsequently, based upon preoperative examination and biopsy results, we performed subtotal colectomy. The affected colon was mobilized successively beyond the peritoneum using high-frequency cutting and sealing devices, followed by a pull-through procedure and colon-anal anastomosis. The average operative time was 206.39min. No case needed conversion from SILS to either conventional laparoscopy or open surgery. Of the 22 patients, 15 were diagnosed as LSHD, while 6 cases were diagnosed with intestinal neuronal dysplasia and one was diagnosed with hypoganglionosis. There were no intra-operative complications. One child had incision dehiscence on postoperative day three. During the follow-up over 12months, all patients were noted to have excellent cosmetic outcomes, and enterocolitis was observed in four children. Subtotal colectomy with the SILS technique can be safely performed in LSHD or HAD patients in the pediatric population without major complications.

Haddad syndrome presenting with abdominal distension associated with long-segment aganglionosis

Haddad syndrome is a form of neurocristopathy characterized by a combination of congenital central hypoventilation syndrome and Hirschsprung disease (HD). Although Haddad syndrome is extremely rare, awareness of the combination of long-segment HD in Haddad syndrome as well as radiographic manifestations may help to ensure a timely diagnosis as well as to facilitate optimal treatment of this unusual condition. We report a case of Haddad syndrome with long-segment, intestinal aganglionosis in a newborn infant. This report emphasizes the features of HD in children with Haddad syndrome and suggests that specific attention be given to its interpretation on plain radiographs.

Does Pre-Biopsy Contrast Enema Delay the Diagnosis of Long Segment Hirschsprung's Disease?

The diagnosis of long segment Hirschsprung's disease (LSHD) is frequently delayed. Our purpose was to: 1) summarize contrast enema (CE) findings in patients with LSHD, and 2) evaluate the utility of CE by comparing LSHD patients managed with/without pre-biopsy CE. All LSHD cases (transition zone [TZ] proximal to the splenic flexure) treated between 1984 and 2009 were stratified according to whether a pre-biopsy CE was done (Group 1) or not (Group 2). CE were reviewed by a single pediatric radiologist, and the original reports were categorized as "helpful", "inconclusive" or "misleading". Group comparisons included elapsed days from admission to diagnostic rectal biopsy/first operation and initial hospitalization length of stay (LOS). 29 patients (16 in Group 1; 13 in Group 2) were identified. CE review revealed TZ in 7/16 (44%); and of these, 6 (86%) underestimated the actual aganglionic segment length. 6/16 (38%) original CE reports were "misleading". Overall, Group 1 patients experienced a significant delay in time to biopsy (p=0.047), first operation (p=0.005), and showed a trend towards prolonged LOS. Pre-biopsy CE offers little to the diagnosis of LSHD and may contribute to diagnosis/treatment delays. Even if a TZ is recognized in biopsy proven HD, the predicted aganglionic segment length should not guide the operative planning.