# Update Course Rewind 2025: Hirschsprung + ARM: Rare but Real — GCMD Library

This video, part of the GlobalCastMD series featuring Cincinnati Children's, recaps key highlights from the 13th Annual Pediatric Surgery Update Course. Dr. Jill Knepprath and Dr. Aaron Garrison discuss important updates in colorectal surgery, focusing on Hirschsprung's Disease (HD) and Anorectal Malformation (ARM). The presentation highlights the incidence of these combined conditions, particularly in patients with Trisomy 21, and provides diagnostic considerations for complex cases.

Type: video · 1 min · posted 2026-05-21
Canonical: https://library.globalcastmd.com/watch/update-course-rewind-2025-hirschsprung-arm-rare-but-real-12084

## Chapters
- [0:01](https://library.globalcastmd.com/watch/update-course-rewind-2025-hirschsprung-arm-rare-but-real-12084?t=1) Introduction and Clinical Scenario
- [0:41](https://library.globalcastmd.com/watch/update-course-rewind-2025-hirschsprung-arm-rare-but-real-12084?t=41) Study Findings on Ganglion Cells and Co-occurrence
- [1:31](https://library.globalcastmd.com/watch/update-course-rewind-2025-hirschsprung-arm-rare-but-real-12084?t=91) Clinical Recommendations

## Statements
- "The rate of Hirschsprung disease and anorectal malformation occurring together is less than 2%" — Jill Knepprath (epidemiological) [0:34](https://library.globalcastmd.com/watch/update-course-rewind-2025-hirschsprung-arm-rare-but-real-12084?t=34)
- "The co-occurrence of Hirschsprung disease and ARM is something to keep in mind for patients with trisomy 21" — Jill Knepprath (clinical) [0:37](https://library.globalcastmd.com/watch/update-course-rewind-2025-hirschsprung-arm-rare-but-real-12084?t=37)
- "A single-center study examined rectal fistula specimens obtained during posterior sagittal anorectoplasty (PSARP) procedures" (clinical) [0:41](https://library.globalcastmd.com/watch/update-course-rewind-2025-hirschsprung-arm-rare-but-real-12084?t=41)
- "Rectal fistula tissue is not physiologic tissue" (clinical) [0:52](https://library.globalcastmd.com/watch/update-course-rewind-2025-hirschsprung-arm-rare-but-real-12084?t=52)
- "Ganglion cells were found in 91% of rectal fistula specimens" — Jill Knepprath (clinical) [0:58](https://library.globalcastmd.com/watch/update-course-rewind-2025-hirschsprung-arm-rare-but-real-12084?t=58)
- "Hypo or absent ganglion cells were found in the remaining rectal fistula specimens" — Jill Knepprath (clinical) [0:58](https://library.globalcastmd.com/watch/update-course-rewind-2025-hirschsprung-arm-rare-but-real-12084?t=58)
- "Absent ganglion cells in fistula tissue does not necessarily mean the patient has Hirschsprung disease" — Jill Knepprath (clinical) [1:05](https://library.globalcastmd.com/watch/update-course-rewind-2025-hirschsprung-arm-rare-but-real-12084?t=65)
- "Three patients (4% of the study cohort) had both Hirschsprung disease and anorectal malformation" — Jill Knepprath (epidemiological) [1:11](https://library.globalcastmd.com/watch/update-course-rewind-2025-hirschsprung-arm-rare-but-real-12084?t=71)
- "Two of the three patients with both conditions had trisomy 21" — Jill Knepprath (epidemiological) [1:15](https://library.globalcastmd.com/watch/update-course-rewind-2025-hirschsprung-arm-rare-but-real-12084?t=75)
- "Patients with both Hirschsprung disease and ARM tend to have chromosomal anomalies" (clinical) [1:22](https://library.globalcastmd.com/watch/update-course-rewind-2025-hirschsprung-arm-rare-but-real-12084?t=82)
- "Chromosomal anomalies associated with both conditions include trisomy 21 and Pallister-Killian syndrome" (clinical) [1:27](https://library.globalcastmd.com/watch/update-course-rewind-2025-hirschsprung-arm-rare-but-real-12084?t=87)
- "Complex anorectal malformation patients with chromosomal anomalies who do not respond to laxatives or enemas should be worked up for Hirschsprung disease" — Jill Knepprath (guideline) [1:31](https://library.globalcastmd.com/watch/update-course-rewind-2025-hirschsprung-arm-rare-but-real-12084?t=91)

## Transcript
Globalcast MD along with Cincinnati Children's Hospital sharing knowledge to improve child health around the globe. I'm Jill Knepprath with Stay Current MD. In this video series, we will be recapping some of the key highlights from our 13th annual update course. In pediatric surgery. This is on Hirschsprung's disease and anal rectal malformations. Here we have a clinical scenario of a patient with trisomy 21 and an anal rectal malformation. Let's start with the poll. What is the rate of Hirshsprung's and ARM together? The correct answer is less than 2%. It's rare, but something to keep in mind for patients with trisomy 21. Two learning points that we wanted to take away from this paper from the PCA PLC. At a single center, looked through all of their rectal fistula specimens that they did during the PAPs. What is a baseline for ganglion cells when you send that tissue, because that's not physiologic tissue, it's fistula tissue. They found ganglion cells in 91% of the specimens and hypo or absent ganglion cells in the rest. But absent cells in fistula tissue doesn't necessarily mean it's Hirschsprung's disease. 3 patients, which is 4% of the patients, had both Hirsch. Sprung's disease and an anal rectal malformation, but two of those three patients also had trisomy 21. The main thing to take away, patients that tended to have both diagnoses tend to have chromosomal anomalies. So trisomy 21, palierchian, and some others. In summary, if you have a complex anorectal malformation patient who is not responding to laxatives or enemas and also has a chromosomal anomaly, you should consider working them up for Hirschsprung's disease. Global Cat MD along with Cincinnati Children's Hospital, sharing knowledge to improve child health around the globe.

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Not medical advice · citation policy: https://library.globalcastmd.com/ai