Rectosigmoid Hirschsprung's Disease Research Articles

Surgical outcomes for patients with rectosigmoid hirschsprung disease who underwent transanal endorectal pull-through after 1 year of age

PurposeThis study aimed to compare the differences in postoperative complications and long-term bowel function outcomes between patients with rectosigmoid Hirschsprung disease (HD) who underwent transanal endorectal pull-through (TEPT) beyond infancy (age> 1 year of age) and those during infancy (≤ 1 year of age).MethodsAll patients with rectosigmoid HD at Beijing Children’s Hospital between January 2011 and December 2020 were analyzed retrospectively. They were divided into two groups based on age at TEPT: group A was defined as patients who performed TEPT beyond infancy (age>1 year of age), and group B as patients who performed TEPT during infancy (age ≤ 1 year of age). Clinical details were collected from medical records. Bowel function outcomes were assessed by the Rintala questionnaire (age ≥ 4 years).ResultsA total of 339 patients were included: 216 (63.7%) who operated with TEPT beyond infancy (group A) and 123 (36.3%) during infancy (group B). Regarding postoperative complications, all patients suffering anastomosis leakage following TEPT (7/216, 3.2%) occurred in group A, and the rate of anastomosis leakage in group A was significantly higher than in group B (3.2% vs. 0.0%, p = 0.044). 228 patients (228/327, 69.7%) completed the Rintala questionnaire. There was no significant difference in long-term bowel function outcomes between the two groups.ConclusionCompared with patients who performed TEPT during infancy, those beyond infancy are more likely to suffer anastomosis leakage. however, the long-term bowel function outcomes seem comparable.Type of StudyA retrospective single-center study.Level of evidenceIII.

Combined Radial Incision and Steroid Injection for Refractory Colorectal Stenosis After Pull-Through Surgery in Hirschsprung Disease: An Innovative Conservative Treatment.

Anastomotic stenosis after pull-through surgery remains a challenge in the management of Hirschsprung disease. Based on the management of esophageal stenosis, we evaluated the efficacy of combined radial incision and steroid injection for the treatment of refractory colorectal anastomotic stenosis after pull-through. Combined radial incision and steroid injection is an alternative conservative treatment of refractory anastomotic stenosis after pull-though for Hirschsprung disease, avoiding a potential complicated redo pull-though surgery. We included patients with recto-sigmoid Hirschsprung disease that developed a refractory anastomotic stenosis after a laparoscopic-assisted Swenson pull-through at Robert-Debré Children University Hospital, Paris, France. Refractory stenosis was defined as obstructive symptoms associated with an anastomotic stenosis upon rectal exam without improvement after serial anal dilatations. Under general anesthesia, an injection of 10mg delayed-action steroid per quadrant was combined with a radial incision of the stenosis using monopolar cautery. Combined radial incision and steroid injection was performed in 4 children, for either early or late refractory stenosis. This resulted in improvement of refractory anastomotic stenosis, avoiding a redo pull-through in 75% of patients. One child presented with transient improvement after combined radial incision and steroid injection but developed recurrent stenosis despite additional combined radial incision and steroid injection and redo pull-through. The median follow-up was 29 months. We observed a clinical improvement in all the patients after combined radial incision and steroid injection. Steroids injection should be considered as a potential alternative therapy for anastomotic stenosis.

Total Transanal Endorectal Pull-through Versus Laparoscopic-Assisted Approach in Children with Rectosigmoid Hirschsprung's Disease: A Systematic Review and Meta-Analysis.

Objective: To compare the clinical outcomes between total transanal endorectal pull-through (TTEPT) and laparoscopic-assisted transanal endorectal pull-through (LTEPT) in children with rectosigmoid Hirschsprung's disease. Methods: A retrospective study was conducted to compare patients with rectosigmoid Hirschsprung's disease who underwent TTEPT or LTEPT at Beijing Children's Hospital between January 2016 and June 2021. Clinical details were collected from medical records. Patients' parents completed the Krickenbeck questionnaire to evaluate the long-term bowel function (age >4 years) by telephone. A literature search was conducted by using the National Center for Biotechnology Information (NCBI) PubMed database. We combined data from our data with eligible articles and performed a meta-analysis. Result: From our data, there was no difference in the incidence of postoperative complications or long-term bowel function between the patients undergoing TTEPT and LTEPT. A meta-analysis, including five published articles and our data, was performed with a total of 414 patients (n = 236 with TTEPT and n = 178 with LTEPT). For postoperative complications, there were no significant differences between TTEPT and LTEPT for the incidence of HAEC (odds ratio [OR], 0.90; 95% confidence interval [CI], 0.45-1.80; P = .77) or anastomotic leak (OR, 2.52; 95% CI, 0.40-15.80; P = .32). Regarding bowel function outcomes, the incidence of soiling (OR, 1.77; 95% CI, 0.84-3.71; P = .13) and constipation (OR, 1.20; 95% CI, 0.54-2.64; P = .66) were also similar for the two approaches. Conclusion: There was no significant difference in postoperative complications and bowel functional outcomes in patients with rectosigmoid HD undergoing TTEPT or LTEPT. Levels of Evidence: III.

Histological transitional zone pull-through in Hirschsprung disease. Postoperative functional results and current recommendations.

Surgeons create a neorectum to repair patients with Hirschsprung's disease (HD), which should be formed from a normoganglionic bowel. However, the neorectum is occasionally created with a transition zone (TZ) bowel. A neorectum created with a TZ has been postulated as a cause of postoperative enterocolitis or constipation. This study compares the incidence of enterocolitis and constipation in patients with TZ neorectum and normoganglionic bowel. We conducted a retrospective review of patients with rectosigmoid HD who underwent primary pull-through. Patients were divided into normoganglionic neorectum (NNR) and TZ neorectum. The diagnosis was based on the final histopathologic report of the proximal margin. The incidence of enterocolitis and constipation was compared between these two groups. A total of 98 HD patients were analyzed. Seventy-one patients fulfilled the inclusion criteria. 65 (92%) had a NNR, and six patients (8%) had a TZ neorectum. From these patients, 42 (59%) presented with enterocolitis or constipation. However, there was no significant difference between both groups. The present study showed no difference in the incidence of enterocolitis or postoperative constipation in HD patients with normoganglionic or TZ neorectum. These results suggest that TZ neorectum does not cause postoperative obstructive symptoms.

Assessment of Functional Outcome Following Duhamel Retro-Rectal Pull-Through Surgery for Hirschsprung's Disease - A Follow-up Study

Abstract Context Hirschsprung's disease (HD) is one of the commonest problems requiring surgery in children. More than 95% of children present during new-born period, when they are treated with leveling colostomy and are followed with pull-through surgery a few months later, once the child has gained adequate weight to withstand a major surgery. The commonest pull through surgery done is the Duhamel retro-rectal pull-through (DRPT) repair. Settings and Design This is a retrospective study of children who presented to one unit in our institute, a tertiary care referral hospital for children less than 12 years, with HD and underwent DRPT procedure during the period between July 2017 to June 2020. The children were evaluated after three years of follow-up for fecal incontinence and constipation. The study was conducted in children diagnosed with classical segment recto-sigmoid HD who underwent surgery. The children who were diagnosed with HD other than classical segment, who underwent primary pull through surgery and who underwent other repairs for HD were excluded from the study. Results Thirty-two children underwent DRPT procedure during the study period. Of them, five (15.6%) children were lost on follow-up and one (3.1%) child had expired in the immediate post-operative period. Twenty-six children were included in the study. The bowel function score was calculated. The mean age of definitive surgery was 4.2 years. The follow-up period was a minimum of three years. Only two children had a “good” score of eighteen and above. Nineteen children had a “fair” score of 13–17. Five children had a “poor” score of less than thirteen, and among them, two had a “very poor” score of less than nine. The mean BFS was 13.72. Conclusions Functional outcomes following Duhamel procedure are satisfactory, with 7.7% of children are in the fringe of requiring another surgery for constipation and pseudo-incontinence.

A Computer Program for Assessing Histoanatomical Morphometrics in Ultra-High-Frequency Ultrasound Images of the Bowel Wall in Children: Development and Inter-Observer Variability.

Ultra-high-frequency ultrasound (UHFUS) has a reported potential to differentiate between aganglionic and ganglionic bowel wall, referred to as histoanatomical differences. A good correlation between histoanatomy and UHFUS of the bowel wall has been proven. In order to perform more precise and objective histoanatomical morphometrics, the main research objective of this study was to develop a computer program for the assessment and automatic calculation of the histoanatomical morphometrics of the bowel wall in UHFUS images. A computer program for UHFUS diagnostics was developed and presented. A user interface was developed in close collaboration between pediatric surgeons and biomedical engineers, to enable interaction with UHFUS images. Images from ex vivo bowel wall samples of 23 children with recto-sigmoid Hirschsprung's disease were inserted. The program calculated both thickness and amplitudes (image whiteness) within different histoanatomical bowel wall layers. Two observers assessed the images using the program and the inter-observer variability was evaluated. There was an excellent agreement between observers, with an intraclass correlation coefficient range of 0.970-0.998. Bland-Altman plots showed flat and narrow distributions. The mean differences ranged from 0.005 to 0.016 mm in thickness and 0 to 0.7 in amplitude units, corresponding to 1.1-3.6% and 0.0-0.8% from the overall mean. The computer program enables and ensures objective, accurate and time-efficient measurements of histoanatomical thicknesses and amplitudes in UHFUS images of the bowel wall. The program can potentially be used for several bowel wall conditions, accelerating research within UHFUS diagnostics.

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.

The Technique of Mobilization of the Colon for Pull-Through Procedure in Hirschsprung's Disease.

BackgroundIn patients with Hirschsprung's disease (HD), persistent obstructive symptoms may develop after surgery. The causes of mechanical obstruction may be a retraction of the pulled-through bowel due to insufficient mobilization of the mesentery or impaired blood supply in the area of the coloanal anastomosis in the case of excessive ligation of the supplying vessels. Leakage and stenosis are formidable complications and require repeated surgical intervention.ObjectiveThe purpose of this study is to describe our experience and short-term results of the developed method: mobilization of the descending colon for its pull-through during the surgical treatment of the children with HD, which allows ensuring good mobility to the descending colon and maintaining blood supply at the same time.MethodsThe medical records of 20 patients with rectosigmoid HD, who underwent parietal mobilization of the descending colon with preservation of the marginal artery, sigmoid arteries, and ligation of the left colon artery, were reviewed. This method is aimed at increasing the mobility of the brought-down bowel and maintaining the blood supply to the distal part of the brought-down bowel not only from the superior mesenteric artery but also from the lower one.The SPSS Statistics 26.0 package was used for statistical analysis. To describe the analyzed data with a normal distribution, the mean values and the error of the mean were used. To determine the differences, Student’s t-test was used, and the differences were considered significant at a significance level of p < 0.05.ResultsIn all patients, the postoperative period was uneventful, without complications. The patients were discharged for outpatient treatment on average on the seventh day after the surgery. In all cases, there were no signs of anastomotic leakage or stricture on follow-up after 6–12 months.ConclusionThe method of mobilization of the colon in the rectosigmoid form of HD, parietal mobilization of the descending part of the colon preserving the marginal artery, sigmoid arteries, and ligating the left colon artery, can reduce the risk of complications by eliminating the tension of the descending colon.

Comparison of clinical outcomes after total transanal and laparoscopic assisted endorectal pull-through in patients with rectosigmoid Hirschsprung disease

BackgroundTotal transanal (TERPT) and laparoscopic endorectal pull-through (LERPT) are the most common procedures to treat rectosigmoid Hirschsprung's disease (HD). Since few studies have compared the two methods, we aimed to assess clinical outcomes after TERPT and LERPT in this cross-sectional study. Methods and PatientsAll patients with rectosigmoid HD operated with TERPT and LERPT between 2001 and 2018 were eligible. Peri-operative data were registered from patients’ records, and bowel function was assessed according to the Krickenbeck classification. Results91/97 (94%) patients were included; 46 operated with TERPT and 45 with LERPT. Bowel function was assessed in 80 patients at median seven (4–17) years. There was no difference in functional outcome between the procedures. Unplanned procedures under general anesthesia were frequent; 28% after TERPT and 49% after LERPT (p = 0.04). 11% of TERPT and 29% of LERPT patients got botulinum toxin injections (p = 0.03). In the TERPT group, patients operated in the neonatal period had poorer outcome (78%) than those operated later (24%) (p = 0.005). No difference in operative time, length of hospital stay, and rate of early and late complications was found between the procedures. ConclusionThere was no difference in long-term bowel function in patients with rectosigmoid HD operated with TERPT or LERPT. More LERPT patients had an unplanned procedure under general anesthesia, mostly due to obstructive symptoms. Level of evidenceIII.

An Update on the Insight of Embryonic, Etiopathogenesis, Current Surgical Advances Besides the Advocated ERNICA Guidelines for the Management of Rectosigmoid Hirschsprung Disease, and Clinical Referral Score Model for Early Diagnosis with Future Use of Stem Cells - A Systematic Review

An Update on the Insight of Embryonic, Etiopathogenesis, Current Surgical Advances Besides the Advocated ERNICA Guidelines for the Management of Rectosigmoid Hirschsprung Disease, and Clinical Referral Score Model for Early Diagnosis with Future Use of Stem Cells - A Systematic Review

Ultra high frequency ultrasonography to distinguish ganglionic from aganglionic bowel wall in Hirschsprung disease: A first report

Background/PurposeIn Hirschsprung disease (HD) surgery, confirming ganglionic bowel is essential. A faster diagnostic method than the current frozen biopsy is desirable. This study investigated whether aganglionic and ganglionic intestinal wall can be distinguished from each other by ultra high frequency ultrasound (UHF ultrasound). MethodsIn an HD center during 2019, intestinal walls of recto-sigmoid specimens from HD patients were examined ex vivo with a 70 MHz UHF ultrasound transducer. Data from four sites were described. Histopathologic analysis was compared to the ultrasonography outcome at each site. Each patient's specimen served as its own control. Results11 resected recto-sigmoid specimens (median 20 cm long [range 6.5–33]) with transition zones of 5 cm (2–11 cm) were taken from children aged 22 days (13–48) weighing 3668 g (3500–5508); 44 key sites were analyzed. There was full concordance for 42/44 (95%) key sites and 10 of 11 (91%) specimens. The specimen with discordance of two key sites contained a segment of aganglionosis (3 cm) and a transition zone (1 cm): the site discordance was limited to the transition zone ends. ConclusionsThis first report on UHF ultrasound in recto-sigmoid HD shows promising results in identifying aganglionosis, transition zones and ganglionic bowel. Further in vivo studies are required.

Optimism for the Single-stage Transanal Swenson in Neonates.

Background:Hirschsprung's disease (HD) has been traditionally treated from infancy onward and different techniques have been used including Swenson, Soave, and Duhamel procedures. The purpose of this study was to evaluate the transanal Swenson's procedure for classical rectosigmoid HD in neonates.Patient and Methods:This was a prospective study in which neonates diagnosed with HD were recruited from January 2017 to December 2018. Cases with a transition zone proximal to the midsigmoid were excluded. All patients underwent a transanal Swenson's procedure in the neonatal period using a unified protocol. Intraoperative course and postoperative outcomes such as leak, pelvic abscess, soiling, perianal excoriation, stricture, enterocolitis, and constipation were evaluated and all patients were followed for at least 6 months.Results:Twenty-three patients (17 males and 6 females) underwent transanal Swenson's procedure. The mean age was 22 ± 5.7 days. Follow-up ranged from 6 to 30 months. No anastomotic leak, retraction, or prolapse was reported. Mild perianal excoriations occurred early in 9 (39%) cases and all responded to medical treatment and disappeared before 2 months postoperatively. Stricture occurred in 2 (8%) patients, enterocolitis in 3 (13%), and constipation in 3 (13%).Conclusion:Transanal Swenson's procedure is feasible and can be performed safely in neonates with rectosigmoid HD with good short-term outcomes. Proper patient selection and standard protocol following fine procedural hall-marks and details are keys for optimal results and patient satisfaction.

Long-Term Results of One-Stage Laparoscopic-Assisted Endorectal Pull-Through for Rectosigmoid Hirschsprung's Disease in Patients Aged Above 5 Years.

Purpose: Despite the fact that the laparoscopic-assisted endorectal pull-through (LAEPT) for Hirschsprung's disease (HD) was introduced over 20 years ago, published outcomes in older children and adolescent are lacking. To address this, we studied the long-term results of LATEP for rectosigmoid HD in patients above 5 years of age. Materials and Methods: A retrospective review was conducted on all nonsyndromic patients above 5 years of age and who underwent one-stage LAEPT for rectosigmoid HD between January 2002 and December 2017. Late Hirschsprung-associated enterocolitis (HAEC) was defined as HAEC occurring 1 year after the pull-through operation. Postoperative bowel function was assessed using the Krickenbeck classification. Results: Forty-one patients (37 males and 4 females) were included in this study with a median follow-up of 9.0 years. The median age at surgery was 55 days. Two patients had anastomotic leakage. No patient had late HAEC, rectal prolapse, anastomotic stricture, or intestinal obstruction. According to the Krickenbeck classification, all patients had voluntary bowel movements without constipation. Overall, 65.8% of patients had no soiling. However, on subgroup analysis, only 45.4% of patients younger than 11 years of age had no soiling compared with 89.5% in patients at or older than 11 years of age (P = .003). Conclusions: Our results showed that LAEPT for rectosigmoid HD was a safe procedure. Nearly 90% of patients had normal bowel function by puberty. Further studies are needed to address the problem of soiling in patients younger than 11 years of age.

Hirschsprung disease and other gastrointestinal motility disorders in patients with CCHS.

Congenital central hypoventilation syndrome (CCHS) is an autonomic nervous system dysfunction due to PHOX2B gene mutation. Little is known about gastrointestinal motility disorders in CCHS patients. This study aims to describe the spectrum of gastrointestinal motility disorders in CCHS and provide PHOX2B genotype-phenotype correlation with Hirschsprung Disease (HD). We reviewed the records of 72 CCHS patients seen at Children's Hospital Los Angeles from 1999 to 2019. Data collected included demographics, PHOX2B genotype, ventilator dependence, medical and surgical history, and gastrointestinal motility studies. Of the 72 patients, 31% had HD, 50% females, and 60% had 20/27 PARM. Rectosigmoid HD formed 73% of the cases whereas long segment (up to splenic flexure involvement) forms represented 23%. Four patients had total colonic aganglionosis, including one patient with 20/25 PARM genotype. One HD patient was identified with colonic myopathy in the residual segment. One patient was found to have achalasia type 1.Conclusion: Nearly one third of our CCHS patients had HD. Although most had 20/27 PARM, 2 patients had 20/25 PARM. Thus, CCHS patients with constipation are at risk for HD regardless of genotype. Colonic myopathy may coexist in treated HD with refractory constipation. Achalasia may occur in patients with CCHS. What is Known: • Patients with CCHS have motility disorders and present with esophageal dysmotility and constipation as a manifestation of their autonomic nervous system dysfunction. • About 20% of patients with CCHS have Hirschsprung disease and previously described to be associated with NPARM and 20/27 PARM genotype. What is New: • Thirty-one percent of CCHS patients in our series have Hirschsprung disease (HD). •HD, including the more severe total colonic aganglionosis was found in a patient with 20/25 PARM genotype suggesting that CCHS patients withconstipation should be screened for HD regardless of genotype.

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.

The Extent of the Transition Zone in Hirschsprung Disease

BackgroundRetained transition zone is a leading cause of obstructive symptoms after pull-through operation in Hirschsprung's disease. ObjectiveWe aimed to evaluate the extent of the histological transition zone in patients with Hirschsprung's disease. DesignWe performed an observational study. DAB+ immunohistochemistry for Protein Gene Product 9.5 was used to evaluate the neuronal networks in serial sections of pull-through specimens obtained from children with Hirschsprung's disease (n = 12). Reference ranges for ganglion size/density and nerve trunk diameter were statistically determined using healthy controls obtained from colostomy specimens from children with anorectal malformations (n = 8). The transition zone was defined as ganglionic bowel exhibiting ganglion hypoplasia, hypertrophic nerve trunks, or partial circumference aganglionosis. ResultsThe mean submucosal nerve trunk diameter in controls was 19.56 μm +/− 3.87 μm. The median age at pull-through for Hirschsprung's disease was 5 months (3–14 months). The median length of the transition zone across the population was 8 cm (4–22 cm). Median transition zone extent was significantly longer in patients with long-segment aganglionosis (n = 6) compared to rectosigmoid aganglionosis (n = 6, 13 cm vs 6 cm, p = 0.041). Due to the age of the patients enrolled, long-term follow-up of bowel function is not yet available. ConclusionOur data suggest that, in children with rectosigmoid Hirschsprung's disease, the transition zone can extend for up to 13 cm. In children with long-segment disease, a longer transition zone is possible. Extended resection at a minimum 5 cm beyond the most distal ganglionic intra-operative biopsy and intra-operative histological examination of the proximal resection margin are required to minimize transition zone pull-through. Level of Evidence2.

Management of Hirschsprung disease in Australia and New Zealand: a survey of the Australian and New Zealand Association of Paediatric Surgeons (ANZAPS).

To define the practice of management for Hirschsprung disease (HD) in Australia and New Zealand. Online survey of Australian and New Zealand Association of Paediatric Surgeons (ANZAPS) members. 56/80 (70%) members from 17 centres responded. 100% perform suction rectal biopsies; 40% perform a contrast enema. H&E (94%), ACHE (70%) and calretinin (75%). Primary pull-through (PT) is performed by 88% (100% by < 6/12months). The Soave-Boley PT is the preferred approach (85%), with laparoscopic assistance (77%) and muscle cuff division (93%). Routine post-operative dilatations are performed by 63% of respondents. If symptoms persist following PT, majority adopt a conservative approach (enemas/laxatives 90%; Botox 74%). If a long-segment is identified at PT, 60% fashion a stoma and delay definitive surgery. If total colonic aganglionosis is identified at PT, 76% fashion a stoma and delay definitive surgery. A dedicated bowel management program is available in 45% of centres with transition to adult services in 29%. A laparoscopic-assisted Soave-Boley PT is the most common technique for recto-sigmoid HD. Differences are noted in both the management of long-segment/total aganglionosis HD and post-operative management/follow-up.

Duhamel operation for Hirschsprung’s disease; laparoscopic modified Duhamel procedure with Z-shaped anastomosis

We assessed outcome of surgery for total colon aganglionosis (TCA) and classical type recto-sigmoid Hirschsprung disease (RS-HD) comparing laparoscopic Duhamel-Z (Lap-DZ) with other techniques. For Lap-DZ, four 5mm ports were used to dissect the colon from the peritoneal reflection to the ileostomy, which was then taken down, a retrorectal route for the ganglionic pull-through ileum was created, and the rectal stump resected 2 cm above the peritoneal reflection. Following pull-through, a transverse incision was made on the anterior wall of the ganglionic ileum at the level of the proximal end of the rectal stump, and the posterior wall of the rectal stump and the lower edge of the ileal anterior wall incision were anastomosed. A surgical stapler, inserted through the anus, was used to divide the posterior rectal wall and the anterior ileal wall. Finally, the anterior wall of the rectal stump and the upper edge of the ileal anterior wall incision were anastomosed to complete a Z-shaped colorectal side-to-side anastomosis without a blind pouch. Surgery and recovery were unremarkable; mean annual continence evaluation scores improved gradually over time with no constipation. Based on outcome, we recommend Lap-DZ for TCA, but not for RS-HD.

A Nordic multicenter survey of long-term bowel function after transanal endorectal pull-through in 200 patients with rectosigmoid Hirschsprung disease

ObjectiveTransanal endorectal pull-through (ERPT) is the most popular technique to treat Hirschsprung disease (HD). Still, there is limited knowledge on long-term bowel function. This cross-sectional, multicenter study assessed long-term bowel function in a large HD population and examined predictors of poor outcome. MethodsPatients older than four years or their parents filled out a validated questionnaire on bowel function. Clinical details were recorded retrospectively from medical records. Results73/200 (37%) patients reported absolutely no impaired bowel function, meaning no constipation, fecal accidents, stoma, appendicostomy or need for enemas. Seven (4%) had a stoma, and 33 (17%) used antegrade or rectal colonic enemas. Most disarrangements of fecal control and constipation were significantly less common in older age group, but abnormal defecation frequency and social problems remained unchanged. Syndromic patients (n=31) experienced frequent fecal accidents (46%) more often than nonsyndromic (14%, P<0.001). Having a syndrome (adjusted OR 5.6, 95% CI 2.1–15, P=0.001) or a complete transanal ERPT (adjusted OR 2.4, 95% CI 1.1–5.7, P=0.038) was significantly associated with poor outcome defined as having a stoma, an appendicostomy, daily fecal accidents or need of regular rectal wash outs. ConclusionA significant number of HD patients experience bowel problems many years after definite surgery. Fecal control was significantly better in older than younger HD patients, but some continued to have considerable bowel problems also as adults. A total transanal ERPT was associated with poorer outcome. Long-term follow-up of HD patients is warranted.Prognosis Study: Level II.

Congenital factor VII deficiency in Hirschsprung disease patient, a novel case report

Abstract This case report presents a novel finding of Rectosigmoid Hirschsprung disease in association with Factor VII deficiency in 2 years female presented to King Abdulaziz University Hospital (KAUH). She was admitted in pediatric surgery unit. On examination; she looked ill and there were signs of infection at the colostomy site. The infection was treated and her overall health improved in 2 months. Mixing study and Factor VII level confirmed the presence of Factor VII deficiency. Congenital Factor VII deficiency is a rare autosomal recessive disease occurring at a rate of 1:500,000 individuals while Hirschsprung disease (HD) is found in 1:5000 individuals. The combination of these two disorders is extremely rare. The patient was successfully managed for both disorders and discharged in good health in stable condition with no hemorrhagic complication. This case report describes an exceptionally unusual combination of congenital factor VII deficiency and Hirschsprung Disease in same patient.