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Purpose: Patients with Hirschsprung disease affecting the splenic flexure or more proximal segments present a surgical challenge. Mobilizing the transverse colon to the pelvis during a pull-through may obstruct the distal ileum, or the length may be insufficient to reach the lower pelvis. This retrospective study aimed to describe two surgical techniques that facilitate mobilization of the transverse colon and their outcome., Methods: We included patients operated on between April 2017 and April 2024 and analyzed sex, comorbidities, type of pull- through, age at pull-through, history of previous surgeries, cause of the proximal transverse colon pull-through, technique used (Deloyers or Turnbull), complications , postoperative outcome and follow-up. The first technique used was the maneuver described by Turnbull. This operation creates a mesenteric defect and mobilizes the colon into this mesenteric window at the distal ileum level. The second technique was described by Deloyers and involves a 180-degree rotation of the right colon by dissecting the right colon attachment and the hepatocolic ligament. The cecum and the ileocecal valve are placed in the right upper quadrant, and the distal colon is mobilized into the pelvis., Results: We included 13 patients, 12 boys and 1 girl. Eight patients had previous surgeries in another hospital: five had an initial transverse colostomy, and three had an ileostomy. The remaining five had the initial operation in our hospital: two had an ileostomy, two had a colostomy, and one had a primary pull-through. The median age at pull-through was 16 months (4-59 months). We used the Turnbull technique in four patients whose aganglionosis was limited to the middle transverse colon. The Deloyers technique was used in the remaining patients, with ganglion cells in the proximal transverse colon. We left a protective ileostomy in five patients. The median follow-up was 4.5 years (3 months to 10 years). The stoma takedown is pending in one patient., Conclusion: The Turnbull and Deloyers techniques were helpful in patients with aganglionosis affecting the transverse colon., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Introduction: Women born with anorectal malformation (ARM) or Hirschsprung disease (HD) may have impaired urologic function resulting in sequelae in adulthood. This study assessed and compared self-reported urinary outcomes in adult females born with ARM or HD to a reference population., Methods: This was an IRB approved, cross-sectional study of female-born patients with ARM or HD, who completed surveys between November 2021 and August 2022. Female patients between the ages of 18 and 80 years were included. Lower Urinary Tract Symptom Questionnaires were administered through REDCap and the responses were compared to a reference population using Chi-squared or Fisher's exact tests., Results: Sixty-six born female patients answered the questionnaires, two of them identified as non-binary. The response rate was 76%. Median age was 31.6 years. The majority were born with cloaca (56.3%), followed by other type of ARMs (28.1%), complex malformation (9.4%), and HD (6.3%). A history of bladder reconstruction was present for 26.6%. Catheterization through a channel or native urethra was present in 18.8%. Two had ureterostomies and were excluded from the analysis. Seven had chronic kidney disease or end-stage renal disease, three with a history of kidney transplantation. Patients with cloaca had significantly higher rates of urinary incontinence, urinary tract infection, and social problems due to impaired urological functioning, when compared to an age-matched reference population (Table 3)., Conclusion: This study emphasizes the need for a multi-disciplinary team that includes urology and nephrology following patients with ARM long term, especially within the subgroup of cloaca., Level of Evidence: III., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Introduction: During "bowel management week," abdominal radiographs are used to monitor the amount and location of stool. A radiologist familiar with the treatment plan can provide an improved interpretation. The goal of this paper is to standardize the radiological reports during a bowel management week., Methods: We saw 744 patients during bowel management week from May 2016 until March 2023. Diagnosis included: anorectal malformation (397), idiopathic constipation (180), Hirschsprung disease (89), and spina bifida (78). Laxatives were the treatment for 51% of patients, and 49% received enemas. Characteristic radiographs were selected for each treatment group for a proposed reading standardization., Results: When the stool is visualized, it is crucial to report its location. Having a contrast enema helps with the correct interpretation of the colonic anatomy. It is also essential to always compare the amount of stool with the radiograph from the previous day to determine if there is an increase or decrease in stool. Examples of radiographs are shown to guide the use of the preferred proposed terminology., Conclusion: Providing information regarding which treatment modality the patient is receiving and stating that a patient is on a bowel management week treatment is crucial for the radiologist to provide adequate interpretation. The radiologist must be familiar with the treatment goals and purpose of the daily radiograph., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Purpose: To assess the quality of life and disease-specific functioning of adults with anorectal malformations (ARM) or Hirschsprung disease (HD) compared to healthy reference scores., Methods: Patients with the diagnosis of ARM or HD from the Adult Colorectal Research Registry completed the Short Form 36 Health Survey (SF-36), the Gastrointestinal Quality of Life Index (GIQoLI), and the Bowel Function Score (BFS) between October 2019 and August 2022. One-sample Wilcoxon test compared the results to reported healthy references with a significance level of < 0.05., Results: The response rate was 67%. All three surveys were completed by 133 adults with a slight preponderance of males (51%). Median age was 31 years, 117 were born with ARM and 16 with HD. All subgroups had significantly lower BFS than healthy references. ARM patients scored significantly lower than the healthy reference population when assessed for GIQoL. All showed significant impairment with the mental component summary (MCS) of SF-36. Patients with a successful bowel management had significantly higher scores on all three questionnaires than those with fecal accidents., Conclusion: Our results emphasize the importance of a successful bowel management and its impact on the quality of life and bowel function. Long-term follow-up is recommended with attention to mental health., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Purpose: Multiple endocrine neoplasia Type 2A (MEN2A) can occur with Hirschsprung disease (HD) due to mutation in the RET proto-oncogene, with the majority developing medullary thyroid carcinoma (MTC). Given the comorbidity, many parents have contacted us to share concerns and unfortunate experiences about the prevalence rates of MEN2A/MTC in patients with HD. The aim is to determine the prevalence rate of patients with HD and MEN2A or medullary thyroid carcinoma, respectively., Methods: This is a cross-sectional study of the COSMOS database from January 01, 2017, to March 08, 2023. The database was searched for patients diagnosed with MEN2A, MTC, and HD. IRB exemption was provided (COMIRB #23-0526)., Results: The database contained 183,993,122 patients from 198 contributing organizations. The prevalence of HD and MEN2A was 0.00002%, and for HD and MTC was 0.000009%. One in 66 patients (1.5%) with MEN2A also had HD. One in 319 patients (0.3%) in the HD group had MEN2A. One in 839 patients (0.1%) within the HD population had MTC., Conclusion: The prevalence of MTC and HD or MEN2A and HD in the study population was low. Considering that almost all MEN2A patients have a positive family history, this data does not support the general genetic testing of HD patients., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Purpose: Long-term urinary outcomes for patients born with Hirschsprung disease (HD) and anorectal malformations (ARM) may impact their health and wellbeing into adulthood. This study describes self-reported long-term urinary outcomes in males with HD and ARM., Methods: This was a prospective study of male patients in the Adult Colorectal Research Registry who completed surveys on urinary function between October 2019 and March 2022. Self-reported health and functional outcomes were summarized, and differences based on type of condition were compared., Results: Sixty-seven patients completed the questionnaire (response rate: 59.1%), of which 17.9% (12) had HD and 82.1% (55) had an ARM. Rates of urinary incontinence and stress urinary incontinence were 16.4% (11) and 4.5% (3), respectively. On sub-analysis of patients with ARM, patients with sacral ratio (SR) of 0.4-0.69 reported higher UTI rates compared to those with SR ≥ 0.7 (57.9 vs 25.8%, p = 0.023). Renal failure rates were highest among patients with recto-bladder neck fistulas (66.0%, p = 0.012)., Conclusion: Patients with HD and ARM report a variety of urological sequelae in adulthood. Outcomes appear to be more common in patients with ARM and may be impacted by both anatomy and sacral ratios. Transitional care to monitor and manage renal and urological function is imperative., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Purpose: The long-term impact of anorectal malformations (ARM) and Hirschsprung disease (HD) on sexual function is well recognized but understudied. This study evaluated self-reported sexual and fertility outcomes in adult males with ARM and HD., Methods: This was an IRB approved, prospective study of males in the Adult Colorectal Research Registry who completed surveys between October 2019 and March 2022. Electronic surveys were administered after consenting to being contacted for research. Patients completed the International Index of Erectile Function (IIEF) questionnaire and provided information on fertility outcomes., Results: Sixty-five patients completed outcome questionnaires: 11 (16.9%) had HD and 54 (83.1%) had an ARM. Nineteen patients reported some degree of erectile dysfunction per IIEF criteria, a greater proportion of whom have ARM (p = 0.046). Twenty (30.7%) have reported having children; there were no differences in rates between HD and ARM patients. Most patients had not attempted to conceive, but eight patients, all of whom have ARM, have pursued fertility investigation or treatments., Conclusion: More patients with ARM reported some degree of erectile dysfunction compared to those with HD. Additionally, some have required fertility treatments. Further investigation is warranted to ensure true low rates of sexual and fertility dysfunction in patients with HD., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Purpose: Limited research exists about the knowledge that adult patients have about their congenital colorectal diagnosis., Methods: This was an IRB approved, prospective study of patients in the Adult Colorectal Research Registry who completed surveys between October 2019 and March 2022. Surveys were administered through REDCap after patients consented to being contacted for research purposes. Patients provided demographic data, which was linked to surgical records, and the diagnoses provided by patients were compared with diagnoses recorded by the original surgeons., Results: One hundred and thirty-one questionnaires were collected, 115 patients had anorectal malformations (ARM) and 16 had Hirschsprung disease (HD). Seven patients who had ARM were unaware that they had an ARM or HD. The type of ARM recorded by the surgeon was unavailable for comparison with the patient's reported diagnosis in four cases. Of the 111 remaining patients with ARM, only 32 of them (29%) knew what their own type of anomaly was. Female patients recalled their diagnosis more often than male patients (42.4% vs 13.5%). All 16 participants with HD correctly identified their diagnosis severity as HD with or without total colonic aganglionosis., Conclusion: The results of this study demonstrate patient's limited understanding of their type of ARM and highlight the urgent need to enhance communication and education strategies, such as issuing patients with medical diagnosis identification cards. It is critical for clinicians to better communicate with patients to ensure that they and their relatives truly understand their precise diagnosis. Adequately informed patients can better advocate for themselves, adhere to treatments and precautionary recommendations and navigate the complexities of transitional care. Consequently they can more effectively manage their lifelong complications., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Background: Social media has become a means to allow individuals affected by rare diseases to connect with others. This study aimed to characterize the use of three popular social media platforms by individuals affected by common pediatric surgery index conditions., Methods: A systematic search of Instagram, Facebook, and Twitter was performed using standardized terms for the following pediatric surgical conditions: anorectal malformation, biliary atresia, bronchopulmonary sequestration, congenital diaphragmatic hernia (CDH), congenital pulmonary airway malformation, duodenal atresia, esophageal atresia/tracheoesophageal fistula (EA/TEF), gastroschisis, Hirschsprung disease (HD), and omphalocele. Accounts active within the last year were analyzed and assessed., Results: A total of 666 accounts were identified. Instagram was the most common platform, but accounts dedicated to support and story sharing were most common on Facebook. Biliary atresia and CDH had the largest communities identified. Support groups were most common among those dedicated to EA/TEF (43.3%, p < 0.001). Most accounts were created by parents, but accounts dedicated to HD had the greatest proportion founded by patients (22.4%, p = 0.04)., Conclusions: Social media use is common among patients and families affected by congenital surgical conditions. Certain diseases have larger communities and support networks. Knowledge about their existence may allow surgeons to direct patients towards supportive communities and resources., Level of Evidence: IV., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Purpose: The use of the appendix for diagnosis of Total Colonic Aganglionosis (TCA) remains controversial. This study aimed to categorize the presence of ganglion cells in the appendix and determine its reliability as a histological specimen for the diagnosis of TCA., Methods: This was a combined retrospective and prospective study. Permanent histological specimens of normal appendices removed during appendectomy for malrotation or falsely presumed appendicitis, and from patients with short segment Hirschsprung's disease (HD) or TCA were included. Permanent specimens of the appendix tip from Malone procedures were prospectively collected. All specimens were independently reviewed by two experienced pathologists in a standardized manner to assess for the presence of ganglion cells., Results: A total of 112 appendices were evaluated. Nine came from patients with a diagnosis of TCA, and five from patients with HD. Ganglion cells were present in all specimens from patients with diagnoses other than TCA and were absent in all specimens from patients with TCA., Conclusion: In the correct clinical setting, the absence of ganglion cells in the appendix can allow for a reliable diagnosis of TCA., (© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Purpose: The gold standard for the diagnosis of Hirschsprung's disease (HD) is a rectal biopsy. The sample may be obtained using a transanal excisional biopsy (TEB) or suction technique. Rectal suction biopsy (RSB) is not a standard procedure in Latin-America., Aim: To evaluate the current practice in rectal biopsy for HD among pediatric surgeons., Methods: We distributed an online questionnaire among Latin-American pediatric surgeons., Results: One hundred forty-nine pediatric surgeons from 15 countries completed the anonymous survey (71.4% of Latin-American countries), grouped into 81.9% pediatric surgeons; 8.9% pediatric colorectal surgeons, 8.9% trainees, and 1 pediatric colorectal surgeon fellow. 50.4% reported less than 5 new patients with HD per year, 36.2% 5-10 new cases, and 13.4% more than 10. Only 14.1% of surgeons have access to perform a RSB in the diagnostic work-up of patients with suspected HD, 90% in our study perform an TEB under general anesthesia. When we ask if they could perform both procedures in babies up to 6 months, 52.3% indicate that they prefer an RSB, and for patients older than 6 months, 35.4% favor an RSB. Regarding the number of samples obtained performing an TEB, 30.9% get one biopsy, 29.5% two biopsies, and 39.6% three or more samples. Surgeons obtained the most proximal biopsy at a median of 2.3 cm (range 1-4 cm) above the pectinate line. 67.8% of surgeons prescribed antibiotic prophylaxis. Overall, 16.1% experienced complications, including rectal blood loss (n = 18), and rectal perforation (n = 3). The most frequently used staining methods for rectal biopsies are hematoxylin/eosin (87%), calretinin (56, 8%), and acetylcholinesterase (21.9%)., Conclusions: In Latin-America, the accessibility for RSB is limited only 18 out of 149 surgeons have access to rectal suction tool. There is no consensus regarding sample number, site of proximal biopsy, and antibiotics use. The complications associated with the procedure seems to be less than reported with RSB. Therefore, we should standardize this common surgical practice and establish universal guidelines for rectal biopsy procedure (RBP).

Purpose: To evaluate the psychosocial functioning of caregivers and patients with anorectal malformation (ARM), Hirschsprung disease (HD), spinal conditions, and idiopathic constipation (IC) during the beginning of participation in bowel management program (BMP)., Methods: In this retrospective study, Parent Stress Scale (PSS, parent-report) and Strengths and Difficulties Questionnaire (SDQ, parent-proxy; SDQ-S, self-report for 11 years and older) were used to evaluate parental stress levels and behavioral functioning, respectively. Descriptive and comparative statistical approaches were applied to summarize the data and to determine differences in scores between diagnoses, gender, and developmental functioning., Results: Two hundred patients and caregivers participated in BMP during the study period. PSS scores were significantly higher for caregivers of patients with IC than ARM. Statistical differences in SDQ were found for patients with IC versus those with ARM, male versus female patients, and patients with developmental delays versus those without delays. No significant differences were found in SDQ-S scores between these groups., Conclusion: Key findings suggest that level of parental stress and behavioral concerns were significantly influenced by diagnoses, and partly by gender and presence of developmental delay. Thus, psychosocial support may need to be tailored based on these findings to provide optimum quality of care for patients and families.

Background: The simultaneous occurrence of Hirschsprung disease (HD) and anorectal malformation (ARM) is extremely rare, with only a very limited amount of cases published in the literature. Constipation is a major problem in patients operated for ARM, and biopsies from the distal rectum in patients with ARM may not show ganglion cells owing to different reasons, leading to a false positive diagnosis of HD. A pull-through procedure for HD after previous anorectoplasty for ARM always leads to fecal incontinence. The aim of the present study was to assess the incidence of simultaneous diagnoses of ARM and HD in a single large cohort of ARM patients and to demonstrate that biopsies from the anal canal, which are negative for ganglion cells, may mislead to a diagnosis of HD., Materials and Methods: A retrospective review of our database from 1980 to 2018 identified 164 patients with HD and 2397 patients with ARM. Four patients suffered from both HD and ARM., Results: The incidence of HD in ARM patients was 4/2397 = 0.17%, and the incidence of ARM in HD patients was 4/164 = 2.4%., Conclusion: Our results strongly suggest that the association of ARM and HD is less common than previously reported., Type of Study: Therapeutic LEVEL OF EVIDENCE: IV., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Although most children with Hirschsprung disease ultimately achieve functional and comfortable stooling, some will experience a variety of problems after pull-through surgery. The most common problems include soiling, obstructive symptoms, enterocolitis, and failure to thrive. The purpose of this guideline is to present a rational approach to the management of postoperative soiling in children with Hirschsprung disease. The American Pediatric Surgical Association Hirschsprung Disease Interest Group engaged in a literature review and group discussions. Expert consensus was then used to summarize the current state of knowledge regarding causes, methods of diagnosis, and treatment approaches to children with soiling symptoms following pull-through for Hirschsprung disease. Causes of soiling after pull-through are broadly categorized as abnormalities in sensation, abnormalities in sphincter control, and "pseudo-incontinence." A stepwise algorithm for the diagnosis and management of soiling after a pull-through for Hirschsprung disease is presented; it is our hope that this rational approach will facilitate treatment and optimize outcomes.

Hirschsprung disease affects many children every year around the world. Currently, there is an extensive menu of diagnostic methods, and surgical treatments. This situation compels the physicians to follow the rationale of these interventions. The comprehensive diagnosis and treatment of Hirschsprung disease need singular procedures. The clear understanding of how to perform each of these techniques, as well as to read the results is mandatory. Otherwise, the medical team may perform unconscious errors and fall into traps. Many errors still happen in patients with Hirschsprung, resulting in a spectrum of problems; from delayed diagnosis to unnecessary colectomies. In other patients, the damage to the anal canal results in fecal incontinence. When this is established, it is an unreversed and devastating social problem. This article describes why these errors occur and how to prevent them., (Copyright © 2019. Published by Elsevier Inc.)

Background/purpose: Fecal incontinence after a pull-through is associated with different factors, although damage to the anal canal seems to be the most important. The objective of this article is to identify the variables related to the presence of fecal control and colitis in a homogeneous group of children after pull-through., Methods: A retrospective cross-sectional study was performed in patients with HD for evaluation of post-operative problems from May 2014 to November 2016. The patients (39) had a transanal approach and were divided into two groups: Group 1 patients with fecal continence and Group 2 patients with fecal incontinence., Results: Group 1 patients (13) had the anastomosis in the rectum, no damage to the anal canal, and a positive history of colitis. Group 2 (26) had the anastomosis at the skin, anoderm, pectinate line, or a combination of these and a negative history of colitis., Conclusions: We demonstrated that patients with a technical error in the anastomosis have fecal incontinence, but not colitis. Preservation of the anal canal is associated with fecal control and colitis because it is a high-pressure zone. Education for proper identification of the anal canal during a pull-through is an absolute necessity., Type of Study: Retrospective Comparative Study., Level of Evidence: Level III., (Copyright © 2017 Elsevier Inc. All rights reserved.)

The transanal endorectal pull-through emerged in the late 1990s as the most recent step in the evolution of the surgical correction of Hirschsprung disease. This operation provides the advantages of a minimal access approach with shorter hospital stay, shorter time to full feeding, less pain, and improved cosmesis with excellent outcomes. This article will review the technical principles of the transanal endorectal pull-through, and will address ongoing controversies in the application of this technique. We will also discuss an organized approach to the problem of obstructive symptoms that may affect a subgroup of patients after the transanal pull-through., (Copyright 2010 Elsevier Inc. All rights reserved.)

Background: The surgical management of Hirschsprung's disease (HD) has evolved from the original 3-stage approach to the recent introduction of minimal-access single-stage techniques. We reviewed the early results of the transanal Soave pullthrough from 6 of the original centers to use it., Methods: The clinical course of all children with HD undergoing a 1-stage transanal Soave pullthrough between 1995 and 2002 were reviewed. Children with a preliminary stoma or total colonic disease were excluded., Results: There were 141 patients. Mean time between diagnosis and surgery was 32 days, and mean age at surgery was 146 days. Sixty-six (47%) underwent surgery in the first month of life. Forty-seven (33%) had the pathologic transition zone documented laparoscopically or through a small umbilical incision before beginning the anal dissection. Mean blood loss was 16 mL, and no patients required transfusion. Mean time to full feeding was 36 hours, mean postoperative hospital stay was 3.4 days, and 87 patients (62%) required only acetaminophen for pain. Early postoperative complications included perianal excoriation (11%), enterocolitis (6%), and stricture (4%). One patient died of congenital cardiac disease. Mean follow-up was 20 months; 81% had normal bowel function for age, 18% had minor problems, and 1% had major problems. Two patients required a second operation (twisted pullthrough, and residual aganglionosis). One patient developed postoperative adhesive bowel obstruction., Conclusion: To date, this report represents the largest series of patients undergoing the 1-stage transanal Soave pullthrough. This approach is safe, permits early feeding, causes minimal pain, facilitates early discharge, and presents a low rate of complications.

Purpose: Transanal endorectal resection and pull-through technique (TERPT) for Hirschsprung's disease (HD) was described in 1998. It offers the advantages of avoiding laparotomy, laparoscopy, scars, abdominal contamination, and adhesions. The authors compared TERPT with 2 open standard endorectal pull-through approaches., Methods: Twenty-eight HD patients operated on by endorectal pull-through were compared in 3 groups. Group I had 10 patients with preliminary colostomy approached by laparotomy; group II, 8 by laparotomy; and group III, 10 patients treated by TERPT. Age, operating time and bleeding, complications, follow-up, and functional results were analyzed. Mean, standard deviation, and median were calculated. Groups were compared by 1-way analysis of variance (ANOVA) using the Kruskal-Wallis test., Results: Age and length of follow-up were not statistically different (P = .12 and .07, respectively). Operating time and bleeding were less in group III (P = .03 for both). An intestinal obstruction secondary to adhesions and a subhepatic abscess occurred in group I and II, respectively. Minimal complications occurred in group III. Good functional results were obtained in 80% to 90% of the patients in all groups., Conclusion: TERPT minimizes blood loss in this study, was expeditious, uncomplicated, and as effective as the open standard techniques.