# The Colorectal Quiz Episode 3.5: Proximal Hirschsprung Disease — GCMD Library

In this episode, Dr. Levitt and Dr. Frischer discuss the workup and management for a patient with suspected proximal Hirschsprung disease. Listen as they walk you through a their thought process and what to consider in these complex patients.

Type: podcast · 8 min · posted 2021-02-15 Canonical: https://library.globalcastmd.com/watch/the-colorectal-quiz-episode-3-5-proximal-hirschsprung-disease-3682 ## Chapters - [0:00](https://library.globalcastmd.com/watch/the-colorectal-quiz-episode-3-5-proximal-hirschsprung-disease-3682?t=0) Introduction and Case Recap - [1:30](https://library.globalcastmd.com/watch/the-colorectal-quiz-episode-3-5-proximal-hirschsprung-disease-3682?t=90) Initial Imaging and Differential Diagnosis - [4:00](https://library.globalcastmd.com/watch/the-colorectal-quiz-episode-3-5-proximal-hirschsprung-disease-3682?t=240) Ruling Out Malrotation and Contrast Enema Findings - [5:20](https://library.globalcastmd.com/watch/the-colorectal-quiz-episode-3-5-proximal-hirschsprung-disease-3682?t=320) Perforation Risk and Diagnosis Confirmation - [6:44](https://library.globalcastmd.com/watch/the-colorectal-quiz-episode-3-5-proximal-hirschsprung-disease-3682?t=404) Operative Approach Preview and Closing ## Statements - "The case involves a one-day-old full-term baby weighing 3.9 kilograms presenting with significant abdominal distension and bilious emesis" — Todd Ponsky (clinical) [0:40](https://library.globalcastmd.com/watch/the-colorectal-quiz-episode-3-5-proximal-hirschsprung-disease-3682?t=40) - "The patient is 41 weeks gestation, just under 4 kilograms" — Rod Gerardo (clinical) [2:00](https://library.globalcastmd.com/watch/the-colorectal-quiz-episode-3-5-proximal-hirschsprung-disease-3682?t=120) - "If the child is sick, resuscitation should be the first step before diagnostic workup" — Rod Gerardo (clinical) [2:30](https://library.globalcastmd.com/watch/the-colorectal-quiz-episode-3-5-proximal-hirschsprung-disease-3682?t=150) - "It is hard on a newborn film to really discern small and large bowel, and you can get fooled" — Frischer (clinical) [3:48](https://library.globalcastmd.com/watch/the-colorectal-quiz-episode-3-5-proximal-hirschsprung-disease-3682?t=228) - "A baby with bilious emesis and non-classic abdominal x-ray could have had distal air and then had a volvulus, requiring urgent upper GI to rule out the dangerous thing before contrast enema" — Todd Ponsky (clinical) [4:05](https://library.globalcastmd.com/watch/the-colorectal-quiz-episode-3-5-proximal-hirschsprung-disease-3682?t=245) - "An upper GI was performed and ruled out malrotation in this child" — Frischer (clinical) [4:43](https://library.globalcastmd.com/watch/the-colorectal-quiz-episode-3-5-proximal-hirschsprung-disease-3682?t=283) - "The contrast enema shows a transition zone somewhere in the transverse colon" — Levitt (clinical) [5:01](https://library.globalcastmd.com/watch/the-colorectal-quiz-episode-3-5-proximal-hirschsprung-disease-3682?t=301) - "The patient was lucky not to show up with a perforation, which usually occurs in the cecum" — Frischer (clinical) [5:20](https://library.globalcastmd.com/watch/the-colorectal-quiz-episode-3-5-proximal-hirschsprung-disease-3682?t=320) - "To get a perforation, you need distension, and if you have a transition zone at the hepatic flexure, then all the pressure is in the right colon" — Frischer (clinical) [5:35](https://library.globalcastmd.com/watch/the-colorectal-quiz-episode-3-5-proximal-hirschsprung-disease-3682?t=335) - "A competent ileosecal valve contributes to perforation risk, while an incompetent ileosecal valve might save the baby from perforation" — Levitt (clinical) [5:41](https://library.globalcastmd.com/watch/the-colorectal-quiz-episode-3-5-proximal-hirschsprung-disease-3682?t=341) - "You are obligated at some point, maybe after resuscitation, to get a rectal biopsy" — Frischer (clinical) [5:57](https://library.globalcastmd.com/watch/the-colorectal-quiz-episode-3-5-proximal-hirschsprung-disease-3682?t=357) - "If the transition zone is in the hepatic flexure, it builds up enough pressure in the right colon to have the cecum perforate" — Levitt (clinical) [6:04](https://library.globalcastmd.com/watch/the-colorectal-quiz-episode-3-5-proximal-hirschsprung-disease-3682?t=364) - "You rarely get a perforation in a more standard sigmoid level transition" — Levitt (clinical) [6:25](https://library.globalcastmd.com/watch/the-colorectal-quiz-episode-3-5-proximal-hirschsprung-disease-3682?t=385) - "A rectal biopsy confirmed the diagnosis of Hirschsprung disease" — Levitt (clinical) [6:58](https://library.globalcastmd.com/watch/the-colorectal-quiz-episode-3-5-proximal-hirschsprung-disease-3682?t=418) - "Proximal Hirschsprung disease requires a different operative approach than distal Hirschsprung disease" — Frischer (clinical) [7:14](https://library.globalcastmd.com/watch/the-colorectal-quiz-episode-3-5-proximal-hirschsprung-disease-3682?t=434) ## Transcript Hey there, listeners. If you haven't already, download the Stay Current in Pediatric Surgery app. We have a brand new layout, new content. But the reason I bring it up for this podcast is because you could also look at associated images. So when Dr. Levitt and Dr. Frischer talk about an x-ray, if you're in the app, you can look at that x-ray and evaluate it the same time that they're talking to you about it. It's available in the Apple Store. It's in Google Play. Download it. But until then, enjoy the episode. Last week on the colorectal quiz. So the next case is a one-day-old full-term baby, weighs 3.9 kilograms, and presents with significant abdominal distension and bilious emesis. So I think we've discussed our basic workup and resuscitation. And now we get a plain abdominal x-ray, and this is what we see. Again, if you're in the Stay Current app, look at this x-ray. You might kind of react to it like Todd did. There's definitely, it's not your standard Hirschsprung's picture. So a head-scratcher for Todd. Do you think it was for Dr. Levitt, too? Interesting. A little bit more complicated than the first case. Yeah, it's not so obvious. Last week, we walked you through a straightforward Hirschsprung case. And then we ended it with a little bit of a cliffhanger. A presentation that was a little bit more complicated. And that's what we're going to talk about today. I'm Rod Girardo from Cincinnati Children's, and this is the colorectal quiz. So to refresh your memory, it's a one-day-old infant who is 41 weeks gestation, just under 4 kilograms. And we get consulted because there's significant abdominal distension and of note, some bilious emesis. So like we talked about last week, if you have a patient like this, the first step should always be to resuscitate the child. And this patient's resuscitation will probably look different from the patient from last week who was pretty stable, not having bilious emesis, not actually having any emesis and was otherwise a well child. So never forget that if the kid is sick, you got to take care of the kid first. So I think we've discussed our basic workup and resuscitation. And now we get a plain abdominal x-ray. And this is what we see. So go ahead and scroll down under the media player, there should be links to images. Open it up. Interesting. A little bit more complicated than the first case. Yeah, it's not so obvious. And I definitely see what is probably some small bowel dilation too. Big right colon. You can see the transverse colon pretty well. Maybe I'm making out that the left colon looks compressed, looks of a small lumen. And obviously the baby's quite distended. Yeah. And I think you could make guesses about this. But like you said, it's hard on a newborn film to really discern small and large bowel. And you can get fooled. I showed the images to Todd Ponsky at Cincinnati Children's. This is what he thought. Right. So I see that this baby has bilious emesis and a non-classic abdominal x-ray. So this is a child that could have had distal air and then had a volvulus. And so for that reason, I would treat this one more urgently as the other as I would definitely get an upper GI, rule out the dangerous thing, and then get the contrast enema. So did they, so looking at this, it looks like it's not an obvious picture. Did they start with an upper GI or did they go for a contrast enema? So you have to rule out the scary stuff. And that is what Dr. Fisher did. For this child, we did do an upper GI, a limited upper GI, and we had ruled out a malrotation in this child. Should we look at the contrast enema? Yes, let's do that. So again, scroll down, look at the next image there. That should be the contrast enema. Open it up. Yeah, so that matches my suspicion about the left colon. Now I know it's left colon. The right colon is very impressive. The transverse colon sort of tapers off. And then everything else is a little bit low. This to me looks probably like a transition zone somewhere in the transverse colon. So they were quick to point out that we're lucky this patient didn't show up with a perforation. And usually they perforate in the cecum. And if you think about how you get a perforation, is you need distension, obviously. And if you have a transition zone, let's say at the hepatic flexure, then all the pressure is in the right colon. That's especially true if they have a competent... Iliosecal valve. And the baby that doesn't have a competent ileosecal valve might... It actually saves them potentially that perforation. And if you have a patient like this, Dr. Frischer believes... You're obligated at some point, maybe after resuscitation, to get a rectal biopsy. Dr. Tim Jackson Oh, for sure. And the other thing you probably can predict, if in fact it turns out to be Hirschsprungs, is that the transition zone is probably somewhere in the hepatic flexure. Because you need it to build up enough pressure in the right colon to have the cecum perforate. You rarely get a perforation in a more standard sigmoid level transition. So, of course, let's confirm this is Hirschsprungs. Erectal biopsy shows Hirschsprungs disease. Dr. Tim Jackson If you want a more in-depth conversation about the suction rectal biopsy, they went into a lot of detail with that in last week's episode. So, go check it out. Dr. Tim Jackson And surgery in this scenario is different, very likely different than in the first scenario as far as what you end up doing for that case. But obviously, that may be for another day. Dr. Tim Jackson Yeah, I think so. Dr. Tim Jackson So, I think so, to finish this case, rectal biopsy, suction rectal biopsy confirms the diagnosis of Hirschsprungs disease. But I think this leads us to the next conversation. These two patients probably will have different operative approaches. Dr. Tim Jackson Two different operative approaches for the same disease because one is more proximal and more complicated and the other is more distal. Dr. Tim Jackson To hear those operative approaches, you're going to have to wait till next week. But you don't have to wait for another one of Dr. Frischer's jokes. Dr. Tim Jackson Have you heard about the family that has diarrhea? Dr. Tim Jackson I've heard about many families that have diarrhea. Dr. Tim Jackson It runs in their genes, my friend. It runs in their genes. Have a great week, everyone. We'll see you next week and we'll talk about the operative approach to Hirschsprungs. Dr. Tim Jackson I love it. Dr. Tim Jackson All right. Thank you. Dr. Tim Jackson That was a good one. Dr. Tim Jackson If you're listening to this in the Stay Current app, go ahead and leave a comment below. Tell us what's unique about your operative approach for either of these cases. Or maybe you have a question, go ahead and ask it. You can do all of that in the Stay Current app. You could even check out our new channel, the Colorectal channel. You can listen to this podcast, watch videos, look at guidelines, anything that you want to know about colorectal at your fingertips on your phone. So until next time, I'm Rod Girardo from Cincinnati Children's and remember, knowledge should be free. --- Not medical advice · citation policy: https://library.globalcastmd.com/ai