The workup for Hirschsprung disease is bread-and-butter pediatric surgery but it can certainly get confusing. Dr. Nelson Rosen is the Associate Director of the Colorectal Center at the Cincinnati Children's Hospital Medical Center and here he is discussing the basics of how to workup a patient with Hirschsprung disease.
Host: Rod Gerardo, M.D.
Type: podcast · 10 min · posted 2021-08-20 Canonical: https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411 ## Chapters - [0:00](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=0) Introduction and Episode Context - [1:05](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=65) Pathophysiology and Anatomic Distribution - [2:52](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=172) Newborn Presentation and Initial Workup - [4:33](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=273) Presentation and Workup in Older Children - [6:25](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=385) Anorectal Manometry and Its Limitations - [8:20](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=500) Biopsy Techniques by Age ## Statements - "Hirschsprung disease is a congenital condition affecting the lowermost aspect of the intestine, typically the rectum or sigmoid" — Nelson Rosen (clinical) [1:05](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=65) - "In Hirschsprung disease, the system of nerves that allows the intestine to relax (ganglion cells in the submucosal and myenteric plexus) is missing" — Nelson Rosen (clinical) [1:25](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=85) - "In Hirschsprung disease, the affected area always ends right above the anus, but where it begins is variable" — Nelson Rosen (clinical) [2:00](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=120) - "About 85% of Hirschsprung cases begin in the very end part of the sigmoid colon or the beginning of the rectum" — Nelson Rosen (epidemiological) [2:20](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=140) - "In about 10% of Hirschsprung cases, the entire colon is affected" — Nelson Rosen (epidemiological) [2:35](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=155) - "90 to 95% of Hirschsprung cases are recognized in the newborn period" — Patty Curran (epidemiological) [2:52](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=172) - "The first sign of Hirschsprung disease is usually failure to pass stool (meconium) within the first 24 to 48 hours" — Patty Curran (clinical) [3:00](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=180) - "After failure to pass meconium, clinical symptoms include bloating, not passing stool, and vomiting" — Patty Curran (clinical) [3:15](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=195) - "Initial workup for suspected Hirschsprung disease includes a water-soluble contrast enema looking for a narrow distal segment with dilation above" — Nelson Rosen (clinical) [3:30](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=210) - "If there is real concern for Hirschsprung disease on contrast enema, a suction rectal biopsy is performed to examine for nerves" — Nelson Rosen (clinical) [4:10](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=250) - "In older children, Hirschsprung disease can be missed and these children are often small for their age group with significant constipation" — Nelson Rosen (clinical) [4:46](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=286) - "Children with Hirschsprung disease very rarely thrive and develop normally" — Nelson Rosen (clinical) [5:10](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=310) - "In older children with suspected Hirschsprung disease, the diagnostic pathway includes plain films to assess constipation severity, followed by contrast enema, and potentially biopsy" — Nelson Rosen (clinical) [5:20](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=320) - "In low-risk situations where constipation developed after the first couple years of life, biopsy should usually be done after routine management measures are tried" — Nelson Rosen (guideline) [5:45](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=345) - "Anorectal manometry uses a balloon catheter to measure pressures in the anus and rectum" — Nelson Rosen (clinical) [6:25](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=385) - "The recto-anal inhibitory reflex is present when stretching the rectum with a balloon causes the sphincter to relax, which is normal" — Nelson Rosen (clinical) [7:05](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=425) - "In Hirschsprung disease, the recto-anal inhibitory reflex is absent" — Nelson Rosen (clinical) [7:25](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=445) - "Anorectal manometry is not very sensitive for Hirschsprung disease; a normal manometry does not completely rule out the disease" — Nelson Rosen (clinical) [7:33](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=453) - "Nobody would operate on manometry findings alone; if manometry is suggestive, a biopsy will still be done" — Rod Gerardo (guideline) [7:50](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=470) - "The gold standard for diagnosing Hirschsprung disease is biopsy" — Rod Gerardo (guideline) [8:10](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=490) - "Suction rectal biopsy can be done at the bedside for newborns and children up to one year old" — Patty Curran (clinical) [8:20](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=500) - "After one year of age, biopsy should be done in the operating room under anesthesia to sample higher in the rectum" — Patty Curran (guideline) [8:35](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=515) - "Normal individuals without Hirschsprung disease have no ganglion cells in the very first part of the rectum" — Rod Gerardo (clinical) [8:41](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=521) - "In older children after one year of age, tissue is thicker and suction biopsy cannot obtain adequate tissue depth to reach the level where ganglion cells would be present" — Rod Gerardo (clinical) [9:30](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=570) - "Surgical biopsy in the operating room is a simple procedure taking about 20 minutes with same-day discharge" — Rod Gerardo (clinical) [9:55](https://library.globalcastmd.com/watch/hirschsprung-disease-workup-4411?t=595) ## Transcript Hey there listeners, this is Rod Girardo, research resident at Cincinnati Children's Hospital Medical Center. And whether you're watching us on YouTube, listening to us on Apple Podcasts, Stitcher, Spotify, SoundCloud, the best way to listen is on the Stay Current Pediatric Surgery app. It's in the Apple App Store, it's in the Google Play Store. But until then, enjoy the episode. July is in full swing. You know what that means? Your pediatric hospital is probably flooded with new fellows, new interns, heck, new medical students. So for this week, why don't we just talk about one of the most highly pimped pediatric surgical topics out there, Hirschsprung disease. To do that, we're going to talk to Dr. Nelson Rosen. He's one of the associate directors of the colorectal center at Cincinnati Children's Hospital Medical Center. And he's joined by one of the colorectal nurses, Patty Curran. So, guys, go ahead and take it away. Hirschsprung's disease is a congenital issue. It is a condition that children are born with. It usually affects the lower most aspect of the intestine. A.K.A. the rectum or the sigmoid. Now, to understand Hirschsprung's, you have to understand how the intestine works. You have to realize that the GI system is like a big tube, right? It's like a big tube that goes from your mouth to your anus. But it's not just a pipe. It's also a pump. But the way that pump works, there's two systems of nerves. One system that allows it to squeeze and one system that allows it to relax. Those are the ganglion cells in the submucosal and the myenteric plexus. And in Hirschsprung's disease, we are missing the system of nerves that allows that to relax. The lowest part, the rectum and the lowest part of the colon are missing those nerves. That area is always affected. And the question with Hirschsprung's is how much of it is affected? So with Hirschsprung's, we know that it always ends right above the anus. But where does it begin? That's where the variability is. Well, here's what Dr. Rosen says. About 85% of the time, it begins in the very end part of the sigmoid colon or the beginning of the rectum. And in about 10% of cases, it's the entire colon. And then a few cases, it's somewhere variably higher up in the colon. Okay, so Hirschsprung's disease is a congenital aganglionosis of the distal aspect of the intestine. And that's important because those nerves are needed for normal peristaltic movement. That's important to keep in mind because that kind of tells you how these patients present. More details on that. Here's Patty. Most, I think 90 to 95% occur in that new or are recognized in that newborn period. The first sign is they usually do not have any stool within the first 24 to 48 hours. And that first bowel movement, we all call it, say it with me, meconium. So failure to pass meconium. That can lead to some clinical symptoms. After that, they will accumulate with bloating, not passing stool. And could be vomiting. And usually that's a clear sign that we need to investigate. So what happens when, I don't know, the baby hasn't had that meconium and maybe is starting to show some clinical signs? Then we get into the workup. In that situation, in the newborn period, some studies will be done. A contrast enema exam could be done in radiology. Okay, so we're going to start off with a water-soluble contrast enema. What is the radiologist looking for? Is the lowest segment of the intestine, the rectum, is that narrower? And then it dilates up above that. That's a sign that we have concern for Hirschsprung's disease. And if they're really concerned? If there's real concern, then a biopsy will be done where we take a tiny piece of the back wall of the rectum and examine that for nerves. There, he's talking about a suction rectal biopsy. The device is basically made to cause negative pressure. And then at the very tip of the device, there's a little area where it can take a little snag of tissue. And then we can send that to the pathologist and see if there are any ganglion cells in there. Okay, let's change gears a little bit. So that was for the newborn patient. What about for an older patient who maybe is having some signs that are leading us towards the diagnosis of Hirschsprung disease? Then what? In older children, Hirschsprungs can be missed. Those situations usually establish themselves. Children with Hirschsprungs very rarely thrive and develop normally. Because they're often small for their age group. You know, you just got to track that growth curve. And then they have significant constipation. Maybe the pediatrician has tried some different therapies. And then they're thinking, well, we need to refer to either a gastroenterologist or a surgeon and get down to the bottom of this. In that case, the diagnostic pathway is still kind of similar. You might get some plain films to see how constipated they really are. And then you might move on to a contrast rectal enema. And then you might end up needing a biopsy depending on what that finds. Sometimes in older children that have, don't have a story that's really suggestive. Like they were fine for the first couple years. And then all of a sudden the constipation got really bad. These are low risk situations for Hirschsprungs disease. Sometimes a biopsy ends up being done. But it should usually be done after routine management measures are tried. So what he's saying is if you try to treat the constipation and then they get better, you probably don't need a biopsy. Right. But let's say you try some different things. Laxative, enemas, you know, you're trying Senna, you're trying all these different bowel regimens. And you're still having a kid who has trouble with constipation. Then it might be reasonable to say, you know what? Yeah, let's go ahead. Let's move forward with further imaging or a biopsy. At some centers where they have experienced gastroenterologists that conduct anal rectal manometry, manometry can be performed. So remember from physics, manometry means that you're measuring pressures. You're measuring maybe a pressure differential. How does that work? Well, here's Dr. Rosen explaining it. The gastroenterologist uses a balloon catheter and measures pressures in the anus and in the rectum. And there's one specific thing that they look for related to Hirschsprungs disease. Now, when the gastroenterologist does this test, there's actually a specific part of the test. That they're looking for. What is it? There is a reflux called the recto anal inhibitory reflex. That when you blow a balloon up in the rectum and stretch the rectum, the sphincter should relax. That is a normal recto anal inhibitory reflex. But if the patient has Hirschsprung disease, that reflex, it's gone. It's not very sensitive. In other words, if you have a normal manometry, it doesn't completely rule out Hirschsprungs disease. Huh? Now, I can tell you that there are people out there that would debate that with me. I remember in my training, the surgeons at the University of Montreal, the pediatric surgeons, actually did the manometry, not the gastroenterologist. How did they know? Huh? And they debated that with me because they said that in our situation, in our experience, every time we have that finding, there's Hirschsprungs disease. But nobody I know would operate on a manometry alone. So if there's a suggestive manometry, a biopsy will still be done. Okay, so the gold standard for diagnosing Hirschsprung disease is the biopsy. You can't rule it in or out unless you have a definitive biopsy. And it turns out, it's actually easier to get than you would think. Here's Patty. A biopsy, a suction biopsy can be done at the bedside for children who are in the newborn phase. And even up to a year old, they're pretty reliable. But after a year of age, we like to take the child to the OR and actually do it under anesthesia so we can go up higher. So I think it's important to understand that you and I, without Hirschsprungs disease, have no ganglion cells or these cells and these nerves that Dr. Rosen talked about in the first, the very first part of our rectum. So when patients get to about a year old, that's when you want to start thinking, maybe we need to go to the OR and get a surgical biopsy instead of a suction rectal biopsy. And the suction biopsy tool is what we routinely use in babies. Basically, it's a little tube that goes, we place it inside the anus at the bedside. And by placing suction, it applies a little bit of suction at the tip of the tool, pulling a little bit of the lining of the rectum into it. And then we fire a little knife part of the tool and it cuts off a tiny, tiny little piece. And that works in babies because you don't need much in a baby to get to the level where you would look for the nerves. But in older children, older children are bigger and their tissue is thicker. So you can't get enough tissue with a suction biopsy tool really after a year of age. So that's why you need to take them to the operating room and a chunk needs to be taken. So we take a tiny little piece out, we stitch up the area that we took it out of. It's a very simple procedure, takes about 20 minutes and they go home the same day. So there you have it. The basics of how to diagnose Hirschsprung disease in both the newborn and then the older pediatric patient. What did you guys think of this podcast? Did you hate it? Did you love it? Either way, leave us a comment below. No matter where you are, YouTube, Spotify, Stitcher, Apple Podcasts or the Stay Current Pediatric Surgery app. And if you don't have it yet, download it today. It's in the Apple App Store, it's in the Google Play Store. So until next time, I'm Rod from Cincinnati Children's and remember, knowledge should be free. --- Not medical advice · citation policy: https://library.globalcastmd.com/ai