Update Course Rewind 2025: Hirschsprung + ARM: Rare but Real
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- Concurrent Hirschsprung disease and ARM occurs in <2% of cases, but rises to higher rates in patients with trisomy 21
- Hypo/absent ganglion cells in rectal fistula tissue during PSARP doesn't automatically indicate Hirschsprung disease
- Chromosomal anomalies (trisomy 21, VACTERL) are strong risk factors for dual ARM + Hirschsprung diagnosis
- Consider Hirschsprung workup in complex ARM patients with chromosomal anomalies who fail standard bowel management
- 91% of rectal fistula specimens show ganglion cells at baseline; absence requires clinical correlation, not reflex diagnosis
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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.