Hirschsprung Disease Workup

Published: 2021-07-02

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Inside this episode

Kai, the Library's AI content creator, listened to this episode and mapped who's speaking, the chapters, key claims, and cases. Every item links to the exact moment in the recording.

AI-enriched

Who's speaking

Rod Girardo — host
Dr. Nelson Rosen — guest
Patty Curran — guest

Chapters

0:00Introduction and Episode Context — Host introduces the episode topic of Hirschsprung disease workup, noting it is a highly pimped topic for new trainees in July, and introduces guests Dr. Nelson Rosen and colorectal nurse Patty Curran from Cincinnati Children's Hospital.
1:05Pathophysiology and Anatomic Distribution — Dr. Rosen explains the congenital nature of Hirschsprung disease as absence of relaxation nerves (ganglion cells in submucosal and myenteric plexus) in the distal intestine, with 85% involving rectum/sigmoid, 10% involving entire colon, and variable involvement in remaining cases.
2:52Newborn Presentation and Initial Workup — Patty Curran describes typical newborn presentation (90-95% recognized in newborn period) with failure to pass meconium in first 24-48 hours, followed by bloating and vomiting. Initial workup includes water-soluble contrast enema looking for narrow distal segment with proximal dilation, followed by suction rectal biopsy if concerning.
4:33Presentation and Workup in Older Children — Dr. Rosen discusses how Hirschsprung can be missed in older children who present with failure to thrive, small stature for age, and significant constipation refractory to routine management. Diagnostic pathway similar to newborns but biopsy should follow failed conservative management in low-risk cases.
6:25Anorectal Manometry and Its Limitations — Discussion of anorectal manometry as a diagnostic tool measuring the recto-anal inhibitory reflex (sphincter relaxation with rectal balloon distension), which is absent in Hirschsprung disease. Dr. Rosen emphasizes the test is not sufficiently sensitive to rule out disease, and biopsy remains necessary even with suggestive manometry findings.
8:20Biopsy Techniques by Age — Patty Curran and Rod Girardo explain that bedside suction rectal biopsy is reliable up to one year of age, but surgical biopsy under anesthesia is preferred after one year because normal anatomy includes absence of ganglion cells in the most distal rectum, and thicker tissue in older children prevents adequate sampling with suction technique.

Key claims

1:05Hirschsprung disease is a congenital condition affecting the lowermost aspect of the intestine, typically the rectum or sigmoid — Dr. Nelson Rosen
1:25In Hirschsprung disease, the system of nerves that allows the intestine to relax (ganglion cells in the submucosal and myenteric plexus) is missing — Dr. Nelson Rosen
2:00In Hirschsprung disease, the affected area always ends right above the anus, but where it begins is variable — Dr. Nelson Rosen
2:20About 85% of Hirschsprung cases begin in the very end part of the sigmoid colon or the beginning of the rectum — Dr. Nelson Rosen
2:35In about 10% of Hirschsprung cases, the entire colon is affected — Dr. Nelson Rosen
2:5290 to 95% of Hirschsprung cases are recognized in the newborn period — Patty Curran
3:00The first sign of Hirschsprung disease is usually failure to pass stool (meconium) within the first 24 to 48 hours — Patty Curran
3:15After failure to pass meconium, clinical symptoms include bloating, not passing stool, and vomiting — Patty Curran
3:30Initial workup for suspected Hirschsprung disease includes a water-soluble contrast enema looking for a narrow distal segment with dilation above — Dr. Nelson Rosen
4:10If there is real concern for Hirschsprung disease on contrast enema, a suction rectal biopsy is performed to examine for nerves — Dr. Nelson Rosen
4:46In older children, Hirschsprung disease can be missed and these children are often small for their age group with significant constipation — Dr. Nelson Rosen
5:10Children with Hirschsprung disease very rarely thrive and develop normally — Dr. Nelson Rosen
5:20In older children with suspected Hirschsprung disease, the diagnostic pathway includes plain films to assess constipation severity, followed by contrast enema, and potentially biopsy — Dr. Nelson Rosen
5:45In low-risk situations where constipation developed after the first couple years of life, biopsy should usually be done after routine management measures are tried — Dr. Nelson Rosen
6:25Anorectal manometry uses a balloon catheter to measure pressures in the anus and rectum — Dr. Nelson Rosen
7:05The recto-anal inhibitory reflex is present when stretching the rectum with a balloon causes the sphincter to relax, which is normal — Dr. Nelson Rosen
7:25In Hirschsprung disease, the recto-anal inhibitory reflex is absent — Dr. Nelson Rosen
7:33Anorectal manometry is not very sensitive for Hirschsprung disease; a normal manometry does not completely rule out the disease — Dr. Nelson Rosen
7:50Nobody would operate on manometry findings alone; if manometry is suggestive, a biopsy will still be done — Rod Girardo
8:10The gold standard for diagnosing Hirschsprung disease is biopsy — Rod Girardo
8:20Suction rectal biopsy can be done at the bedside for newborns and children up to one year old — Patty Curran
8:35After one year of age, biopsy should be done in the operating room under anesthesia to sample higher in the rectum — Patty Curran
8:41Normal individuals without Hirschsprung disease have no ganglion cells in the very first part of the rectum — Rod Girardo
9:30In 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 Girardo
9:55Surgical biopsy in the operating room is a simple procedure taking about 20 minutes with same-day discharge — Rod Girardo

Points of disagreement

7:33Sensitivity of anorectal manometry for diagnosing Hirschsprung disease
- Dr. Nelson Rosen: Manometry is not very sensitive; normal manometry does not rule out Hirschsprung disease
- Rod Girardo: Acknowledges that surgeons at University of Montreal who performed manometry themselves debated this, claiming that in their experience every abnormal finding correlated with Hirschsprung disease, but agrees that biopsy is still necessary

Open questions

What is the optimal timing for biopsy in older children with atypical presentations who have partially responded to conservative management?
How can the sensitivity of anorectal manometry be improved, or should it be abandoned in favor of direct biopsy in equivocal cases?

This episode was analyzed and enriched by Kai, the Library's AI content creator. Every item links to the moment it comes from — click a timestamp to listen in context.

Hirschsprung Disease: Diagnostic Pathway from Newborn to Older Child

The episode's teaching points arranged as a structured lesson, building from the basics up to the finer points. Written by Kai from the episode transcript and reviewed before publishing.

For specialists · Teaching arc · AI-written, human-reviewed

Foundational Anatomy Determines Clinical Behavior

The disease always ends at the anus; the question is where it begins. 2:00 The aganglionosis invariably terminates just above the anal verge, but the proximal extent varies: about 85% of cases begin in the distal sigmoid or proximal rectum, approximately 10% involve the entire colon, and the remainder fall somewhere between 2:20 2:35. This anatomic variability matters because the length of affected bowel determines both the severity of presentation and the complexity of eventual repair. Understanding that Hirschsprung is not a single entity but a spectrum defined by proximal extent is the first step in diagnostic reasoning.

The missing component is the relaxation system, not the squeeze. 1:25 Two nerve systems govern intestinal motility: one for peristaltic contraction and one for coordinated relaxation. Hirschsprung disease involves absence of ganglion cells in the submucosal and myenteric plexuses — the nerves responsible for relaxation. The affected segment cannot relax to permit passage of stool, creating a functional obstruction despite intact contractile function. This explains why these children do not simply have slow transit; they have a mechanical problem masquerading as a motility disorder.

Age-Specific Diagnostic Pathways

In newborns, failure to pass meconium within 24 to 48 hours is the sentinel finding. 3:00 Ninety to 95% of cases are recognized in the newborn period 2:52, typically presenting with failure to pass meconium followed by abdominal distension and vomiting 3:15. The initial imaging study is a water-soluble contrast enema looking for a narrow distal segment with proximal dilation 3:30. If concern is substantiated, proceed directly to suction rectal biopsy 4:10. In this age group, bedside suction biopsy is both feasible and reliable 8:20.

In older children, the diagnosis is often delayed, and these patients are characteristically small for age with severe constipation. 4:46 Children with Hirschsprung disease very rarely thrive and develop normally 5:10. The diagnostic sequence remains similar — plain films to assess severity, contrast enema, and potentially biopsy 5:20 — but the threshold for biopsy shifts. If constipation developed after the first couple of years and the clinical picture is low-risk, biopsy should follow a trial of routine management rather than preceding it 5:45. This is not a license to delay indefinitely; it is recognition that not every constipated toddler requires tissue diagnosis before empiric therapy.

Technical Considerations in Biopsy

After one year of age, suction biopsy becomes unreliable and surgical biopsy under anesthesia is required. 8:35 The reason is anatomic: normal individuals have no ganglion cells in the most distal rectum 8:41, and in older children the rectal wall is thick enough that suction biopsy cannot reach the depth where ganglion cells should be present 9:30. Sampling too distally in an older child yields a false positive; sampling with inadequate depth yields a non-diagnostic specimen. Surgical biopsy in the operating room is a straightforward procedure requiring approximately 20 minutes with same-day discharge 9:55. The key teaching point is that age dictates technique, and attempting bedside biopsy beyond infancy invites sampling error.

Manometry: Useful but Not Definitive

The recto-anal inhibitory reflex is absent in Hirschsprung disease, but manometry lacks the sensitivity to rule out the diagnosis. 7:05 7:25 Normally, distending the rectum with a balloon triggers reflex relaxation of the anal sphincter. In Hirschsprung disease this reflex is absent, but a normal manometry does not exclude the disease 7:33. No one operates on manometry findings alone; if manometry is suggestive, biopsy will still be performed 7:50. The gold standard remains tissue diagnosis 8:10. Manometry may guide clinical suspicion but cannot replace histopathology.

The Central Principle

The discussants emphasized that biopsy is the definitive test 8:10, and the clinician's primary task is determining when to pursue it. In newborns with classic presentation, move quickly to tissue diagnosis. In older children with atypical or late-onset symptoms, weigh the pretest probability and consider empiric management first. But once the decision to biopsy is made, ensure the technique matches the patient's age — bedside suction biopsy for infants, surgical biopsy under anesthesia for children beyond one year.

Takeaways from this story

After age one, suction biopsy fails because normal distal rectum lacks ganglion cells and thicker tissue prevents adequate depth sampling
In older children with late-onset constipation, trial routine management before biopsy unless clinical picture is high-risk
Absent recto-anal inhibitory reflex suggests Hirschsprung but normal manometry does not exclude it; biopsy remains gold standard
85% of cases involve rectosigmoid, 10% entire colon; proximal extent determines severity and surgical complexity

Topic overview

A clinical discussion of Hirschsprung disease workup covering the pathophysiology of congenital aganglionosis affecting the distal intestine, typical presentation patterns in newborns (failure to pass meconium within 24-48 hours) versus older children (chronic constipation with failure to thrive), and the diagnostic pathway including contrast enema, suction rectal biopsy as the gold standard, and anorectal manometry with its limitations. The discussion emphasizes that approximately 85% of cases involve the rectum and sigmoid colon, while 10% affect the entire colon, and that biopsy technique differs by age—bedside suction biopsy is reliable up to one year, but surgical biopsy under anesthesia is preferred in older children due to the normal absence of ganglion cells in the most distal rectum.

Key takeaways

Failure to pass meconium within 24-48 hours is the hallmark newborn presentation, prompting contrast enema then suction biopsy. (3:00)
Bedside suction biopsy is reliable up to age one; older children need OR biopsy due to distal rectum's normal aganglionosis. (8:20)
Anorectal manometry lacks sensitivity—absent recto-anal reflex suggests Hirschsprung but normal study doesn't exclude it. (7:25)
Children with missed Hirschsprung rarely thrive; chronic constipation with failure to thrive warrants biopsy after initial management. (4:46)
85% of cases involve rectosigmoid; 10% affect entire colon. Aganglionosis always extends to anus with variable proximal extent. (2:00)

Keywords

Hirschsprung disease congenital aganglionosis constipation failure to thrive contrast enema water-soluble contrast enema suction rectal biopsy surgical biopsy anorectal manometry laxative Senna Cincinnati Children's Hospital Medical Center University of Montreal

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Transcript

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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.

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