The Colorectal Quiz Episode 10: Total Colonic Hirschsprung Disease Part 1

Hey there listeners. It's Rod Gerardo and Amanda Jensen from Cincinnati Children's. Have you downloaded the new version of the State Current Pediatric Surgery app? It's in the Apple App store, it's in the Google Play Store. The reason I bring it up is that if you're listening to this podcast within the app, you can bring up Gerdo and articles, radiological images, or pictures in real time while Dr. Frisher and Dr. Levitt are talking about them. So download the app. We know you're going to love it. But until then, enjoy the episode. In previous episodes, we have talked about Hirschsprung's disease. Like so many episodes are about Hirschsprung's. But you know what we haven't talked about? Total colonic aganglionosis or total colonic Hirschsprung's. Amanda, what is that? There is an absence of ganglion cells throughout the entire colon. And as you can imagine, these patients are diagnosed and treated a little bit differently than the Hirschsprung patients in our previous episodes. So that's what we're going to talk about today, total colonic Hirschsprung's disease. Without further ado, this is the colorectal quiz. That would really suck if one time we do this and we don't record it. That's Dr. Jason Frisher, pediatric colorectal surgeon at Cincinnati Children's Hospital. Don't worry, boss. We recorded this episode. Well, welcome everyone back to our colorectal quizzes. I'm glad you're joining us because we were afraid you were going to run away. I'm actually not convinced that it isn't just the two of us talking right now, but. That's Dr. Mark Levitt, pediatric colorectal surgeon at Children's National. And here is the first case. We have a 10-month-old with a delayed diagnosis of Hirschsprungs. Presented initially to the emergency room with severe abdominal distension. Severe constipation, requiring clean outs with Miralax. But constipation remained unchanged, the pediatric surgery team was consulted and a contrast enema was obtained. No other past medical history, other than this child had a failure to pass meconium at birth, secondary to a meconium plug. At that time no suction rectal biopsy was performed during the neonatal period, and here we are now with a 10-month-old, uh, suffering from significant constipation. If you're thinking to yourself, how could you miss this diagnosis of Hirschsprungs? Well, think about how many kids presents to their pediatrician with constipation. So why is this one different? This one has a bit of a nuance to it. The distension is significant enough to bring the kid to the ER. And this history of a meconium plug. Pediatricians and gastroenterologists who see such a patient should wonder whether this is in fact a Hirschsprungs case. I was going to ask Mark, this is that made me pause as well. When you hear about that and you're taking care of a patient if you're uh on service in the you, do you further investigate a little further? Yeah, so I mean let's talk about this baby as a newborn with a meconium plug that successfully passes. I would biopsy for Hirschsprungs because 10% of those patients have Hirschsprungs and you do not want to have that kid limp along for the next few months, constipated, not eating well, distended and in fact you missed the diagnosis of Hirschsprung. Exactly. The other really thank you the real other really interesting thing about the contrast study in meconium plug is there's a meconium plug. It sounds like yeah, duh, but I mean think about it. This kid has Hirschsprungs. So when they got that initial contrast rectal enema, it looks like a meconium plug, but really at that point was a segment of Hirschsprungs. So then after they pass the meconium, it's not a bad idea to get another contrast image, and then that will look like, oh yeah, obviously this is Hirschsprungs. But yes, I agree. We should keep a broad differential. Amanda? There are many conditions associated with failure to pass meconium in the newborn. Okay, which one's most common? Hirschsprungs disease, meconium plug syndrome, meconiumalias, anorectal malformation. Okay, what are some rare ones? Small left colon syndrome, hypothyroidism, any opiate in the newborn system, any mag sulfate if the mom had pre-term labor that they were trying to control. And then of course consider milk protein allergy. This last one, get ready to Google. Microcolon intestinal hypoparastalsis syndrome. We already spoiled the ending for this one. I mean this kid has Hirschsprungs. But in that time when you're doing the work up, the child should receive a rectal biopsy to rule it out. Even though Dr. Levitt and Dr. Frisher said that nine out of 10 times it's going to be negative, you probably should do it if it's high on your differential because you didn't miss the one that had Hirschsprungs disease. Let's let's take a look at the image. We're trying. You got it. Let's do it. So here it is. If you're in the state current app, scroll down under the media player, open up that first image. That's the water soluble contrast enema at birth. Filling the entire colon in an AP and lateral view and hopefully you'll be able to see that on your app. But if they don't have the app, Amanda, how does it look? The colon is amorphous and very cylindrical and there's a lot of air within the small bowel. And given these findings and no passage of meconium. Seeing this image, I can see how it might have been read as normal or just meconium plug. But this does not look right to me. It does not like like Hirschsprungs on the bottom. I guess hindsight is 2020, no pun intended there, but a rectal biopsy should have been performed. Okay, so we missed our chance in the newborn period. But remember, this patient is again, presenting at 10 months old in the emergency department, abdominal distension, constipation. Next to that first image is going to be an x-ray image at the 10month time point in the ED. We have an X-ray demonstrating dilated bowel. Um, and it's abnormal. And then we have a contrast enema. That's the next picture that we're giving you in the app. Open it up, take a look, you'll see it's pretty sus. He had a significant amount of a stool burden within his entire colon and the colon remained very cylindrical. colon that is amorphous appearing, uh, there's areas of irregularity along the wall. Yes, but the one thing you have to say is there's no narrowing at the rectum compared to the sigmoid. So I could see how this would be called normal to be honest. What he's getting at is that this doesn't look like the classic rectosigmoid Hirschsprung. These patients with total colonic are going to act a little bit differently. Both from their imaging studies and in their presentation. So now we want to get a biopsy. We want a definitive diagnosis, but we got a couple options. How do you make a decision between rectal biopsy in the operating room or suction rectal biopsy at the bedside? What's your age cutoff? My cutoff is around six months when I switch from suction rectal biopsy to full thickness biopsy. I think there's a discussion there and you could argue either way. Mark, I'm curious what you would do. At 10 months, I need a good diagnosis. I would probably do a full thickness biopsy at this point. Yeah, I I agree. When I I really, I mean suction biopsies are great, except when you don't have a definitive diagnosis and then you have to do something more definitive and then you need to go to the OR and do a formal biopsy. I think in this case with this history, I would really want a good diagnosis, so I agree. Now, spoiler alert, this patient's going to the OR because this is a surgical podcast. But before you do that, you have to make sure you try to get rectal biopsies preoperatively. Um, they then went to the OR and performed a biopsies and an ileostomy. We've talked about this before, but what did the pathology show? They found no ganglion cells on frozen section. So some questions. Number one, do you make the call Hirschsprungs or no Hirschsprungs on frozen section? And two, what do you think about the loop ileostomy? If the patient is doing well and able to be managed with irrigations, would love to have my final diagnosis of Hirschsprungs disease through the rectal biopsy before entering the abdomen. Conversely, if the patient is not doing well with the irrigations, it kind of forces your hand. You have to give the patient a procedure to relieve that pressure, like an ileostomy or a 11 colostomy. Avoid loops because Dr. Frisher and Dr. Levitt say you're probably going to spill some stool into a non-functional part of the colon. Then once you go to the operating room, I typically would biopsy at standard places, the recto sigmoid, maybe proximal sigmoid, around the left colon, some uh biopsy along the uh transverse colon and then a biopsy along the right colon or hepatic flex area. Now, oftentimes you can see a transition zone with your own eyes while you're in the operating room, whether it's open or with a laproscope. In those cases where you don't, that's when Dr. Frisher and Dr. Levitt recommend, maybe you should get some more biopsies in other places like what Dr. Frisher was saying. Yeah, and I think that's an important point. And I think what happened here is they confirmed Hirschsprungs disease. They went in with the laproscope, they started their biopsies, they couldn't find any ganglion cells anywhere and they decided to quit, not do anything definitive and do a loop ileostomy. Now, that is totally acceptable. Don't give this patient a definitive procedure if you just have frozen section and you're questionable about that frozen section. You can always wait for pathology, you can always come back another day to do the pull through if you need to. Now let's talk about total colonic Hirschsprungs. So this is a little bit less of a mystery right now, but obviously there's still a fair bit of controversy to talk about what what needs to be done going forward. But we're out of time, so to hear about the next steps, you're going to have to wait until next week when we finish this topic out. So, Amanda, help me out here. Let's summarize the case. So in summary, this is a 10month-old male who failed to pass meconium at birth and presented with severe abdominal distension and constipation to the emergency room, uh, with a workup at 10 months of age, uh, he was found to have a rectal biopsy confirming Hirschsprungs disease and underwent colonic mapping and a diverting ileostomy. Beautiful, great job. Now, we're not going to leave you hanging completely. I mean we're still going to give you the weekly joke. Jason, did you hear um that two antennas? Two antennas, believe it or not got married. That's interesting. Yep. The ceremony was great, but the reception was amazing. Oh boy, oh boy. Wow, wow. So there you have it. The workup and initial management for a patient with suspected total colonic Hirschsprung disease. Tune in next week to see what happened in this baby with total colonic Hirschsprungs. If you need something to do while you're waiting this week, we got a lot of content in the app. Make sure to download the State Current Pediatric Surgery app. It's in the Apple App Store, it's in the Google Play Store, but until then, I'm Rod Gerardo and again, I'm Amanda Jensen from Cincinnati Children's. And remember, knowledge should be free.