Guideline sources The following summarized guidelines for the evaluation and management of hirschsprung disease are prepared by our editorial team based on guidelines from the European Reference Network for Rare Inherited and Congenital Anomalies (ERNICA 2020). 1 Calculator Hirschsprung's Associated Enter Guidelines 1. Screening and diagnosis Diagnosis: diagnose Hirschsprung's disease based on representative rectal histology. Confirm the diagnosis before performing pull-through surgery. B https://web.pathway.md/diseases/reczQKoF1jKDWSuBG 1/4 6/24/23, 12:44 PM Hirschsprung disease Pathway 2. Diagnostic investigations Genetic analysis: Consider obtaining genetic testing of RET in patients with non-syndromic Hirschsprung's disease. C Refer patients with syndromic Hirschsprung's disease for genetic consultation and screening for the specific gene associated with the syndromic phenotype. B 3. Diagnostic procedures Rectal biopsy: perform rectal biopsy if the clinical history and physical signs are suggestive of Hirschsprung's disease. B Show 2 more 4. Perioperative care Pre-operative management: administer rectal saline irrigations 1-3 times daily to decompress the bowel until the definitive pull-through surgery. B Show 3 more Post-operative management: provide specialist pediatric and nursing care during the early postoperative period, and ensure availability of anesthesia consultation. B Show 2 more 5. Surgical interventions Pull-through surgery (indications): perform pull-through surgery in stable and well-growing patients with Hirschsprung's disease, if the bowel has been sufficiently decompressed. B Pull-through surgery (technical considerations): preserve anal canal during pull-through surgery. B Show 2 more Pull-through surgery (setting): Perform pull-through surgery in centers with at least two pediatric colorectal surgeons and pathological, radiological and anesthetic expertise, including pediatric and neonatal intensive care and specialized nursing 24/7. B Ensure that the centers performing pull-through surgery for Hirschsprung's disease: have the capabilities to manage the entire care pathway B demonstrate active involvement in quality control and improvement B perform the type of pull-through surgery in which they have the most experience, including management of postoperative complications and follow-up. B https://web.pathway.md/diseases/reczQKoF1jKDWSuBG 2/4 6/24/23, 12:44 PM Hirschsprung disease Pathway 6. Specific circumstances Patients with Hirschsprung's associated enterocolitis: suspect the diagnosis of Hirschsprung's associated enterocolitis in patients with explosive diarrhea, foul-smelling stool and/or HAEC score of 4. B Show 6 more 7. Follow-up and surveillance Management of persistent fecal incontinence: Consider evaluating pediatric patients > 4 years old with fecal incontinence and normal intellectual development, including: elicit stooling history and pattern to evaluate for tendency to constipation or diarrhea, and involuntary passage of flatus elicit dietary history and growth perform examination under anesthesia with or without anorectal manometry to assess the integrity of the anal canal, sphincter complex and dentate line, and for the presence of rolled muscle cuff, stricture or rectal spur obtain contrast enema to evaluate for colonic dilatation, rectal spur, constipation, or a twisted pull-through with or without obtaining endorectal ultrasound to assess for sphincter defects. B Show 4 more Management of persistent obstructive symptoms: Obtain further evaluation in pediatric patients with persistent obstructive symptoms following pull-through surgery including: perform rectal examination and obtain contrast enema to rule out a mechanical cause and to assess for colonic dilatation review the histology of the proximal margins of the originally resected bowel repeat rectal biopsies to ensure normal innervation of the pulled-through bowel. B Show 3 more Long-term follow-up: obtain regular follow-up to adulthood in pediatric patients with Hirscgprung's disease within the context of an interdisciplinary care team, led by a pediatric surgeon. B Show 2 more References 1. Kristiina Kyrklund, Cornelius E. J. Sloots, [ ] et al. ERNICA guidelines for the management of rectosigmoid Hirschsprung s disease. Orphanet J Rare Dis. 2020; 15 164. Open 2. Aimee C Pastor, Fahima Osman, Daniel H Teitelbaum et al. Development of a standardized definition for Hirschsprung's-associated enterocolitis: a Delphi analysis. J Pediatr Surg. 2009 Jan;44 1 251 6. Open https://web.pathway.md/diseases/reczQKoF1jKDWSuBG 3/4 6/24/23, 12:44 PM Hirschsprung disease Pathway https://web.pathway.md/diseases/reczQKoF1jKDWSuBG 4/4