Colorectal Quiz Episode 27: Delayed Hirschsprung Disease

Welcome back listeners to another episode of the Colorectal Quiz. I'm Shimon Jacobs, colorectal surgery fellow at Children's National in Washington DC. Today we're discussing a case of a delayed presentation of Hirschsprung disease. Follow along when we look at images using the Stay Current app. Download it now from the Apple App Store or the Google Play Store and maximize your experience with this podcast and access hundreds of other resources in pediatric surgery. Now let me introduce our first host, Doctor Levitt, colorectal surgeon at Children's National Hospital, who will present our special guest. Well, it's a great honor. Caitlin Smith is joining us, uh, pediatric surgeon and colorectal expert extraordinaire from one of my favorite cities and. Children's Hospital, Seattle Children's Hospital. Thank you so much for introducing me today and having me as a guest. Thanks for joining us. We're really excited. We have another great episode today. That's our second host, Doctor Fisher, director of the Colorectal Center at Cincinnati Children's Hospital. OK, let's dive right in. Doctor Smith, please kick us off with the case. A 3 year old with chronic constipation. And uh this is actually a patient who was sent to me when he was initially 5 or 6 months old, starting to be constipated after transitioning to solids. Um, he came with some biopsy results from outside the hospital that we were told, um, were inconclusive. He was doing OK with weight and, and, and feeds but was sort of pretty marginal. Clinical features that the pediatrician was worried about that brought the patient. To me were on exam, the patient was distended, the weight gain was marginal, and the patient also would not stool unless a suppository was placed. Every pediatrician, pediatric gastroenterologist, and surgeon needs to be able to assess whether a case of constipation is complex enough that we should ask ourselves the question of the day. Is this Hirschsprung disease? These numbers are certainly not precise, but this kind of patient. Of 1000 patients with constipation, 900 of them can be managed by the pediatrician. Diet change and maybe a little laxative, leaves 100. Of those 100, 90 can be managed by a gastroenterologist, usually with just a little bit more aggressive. Max more maximally treated, uh, constipation, leaves 1010 patients come see a surgeon or at least a collaborative model using a motility expert for GI, and of that 10, 1 needs a surgical intervention. So the numbers are daunting. So we really need to help the pediatrician figure out who, who's the outlier, who needs the referral, and then, What's the workup? That's I think the magic question here, right? What's the workup? What's the workup that could have been done prior and what's the workup that you considered, let's start at this 56 month visit when you first met this young boy. The parts in the history that made me concerned and more interested in doing a biopsy or as you pointed out, the weight gain. The other part was the rectal stimulation that was needed to have any bowel movement. Again, steered me more towards wanting a biopsy. Doctor Smith recommended the rectal biopsy, which the family refused at the time and was subsequently lost to follow up until they returned to the clinic at age 3. So this is interesting though, this is basically the natural history. Of inadequately treated constipation in a possible Hirschprung situation. Now what's fascinating about that, this is, not a typical Hirschprung's case, right? Hirschsprung's is enterocolitis early. 90% of Hirschprung's disease is diagnosed in the first month of life, but there's definitely an older kid Hirschprung's group. And they are atypical, and you basically watched a 6 month old become a 3-year-old, not by your choice, of course, the family, the family just disappeared, but I would bet, even if this turns out to be Hirschprung's, that between 6 months and 3 years, the kid never had enterocolitis. Never. So back to the workup for possible Hirschsprung disease. How about a contrast enema? The patient had not had a contrast enema at that time. People talk about the radiation exposure and whether or not you what order to get it in. I think it's a study that needs to be obtained. It's a good screening test for, you know, seeing if there is a transitionary or if the, um, the ratio looks like it's consistent with Hirschprung's. What about another test that might have been available. I know this is available in Seattle. Anorectal manometry. What are your thoughts on that? Yep, anorectal manometry, I think, is another really good screening test, um, for, uh, patients who, for looking for a rare and if they, um, potentially fall into patients who should be getting a biopsy or not. And just to make sure everyone understands, a rare is a recto anal inhibitory reflex, and what the smooth muscle is supposed to do is relax when the rectum is distended. So the AMA, the anorectal manometry simulates that experience, and there are two patient groups in whom the smooth muscle rather than relaxing actually contracts. The first group consists of patients with Hirsprung disease and the second are patients with internal sphincter alagia. You may have high resting pressure of the external sphincter in both groups, and so the 2 may be indistinguishable until you get your biopsy result. If I had a 3 year old like this, I would definitely do an anorectal manometry. Our routine, which I think is very coordinated and works well with GI, is to do an anorectal manometry in the OR but awake, hopefully for a cooperative patient. Not always true. Anesthesia standby. If they're not cooperative, at least. You can give them some gentle sedation and you can get, you can elicit a rare. And if the rare is absent, then you're obligated to do a biopsy to make sure it's not Hirschprung's. I would not proceed with a biopsy if I have a good, well-done, a man with a normal rare. I also would do Botox at that same time, possibly treating. Internal sphincter yasia, you don't know yet if the biopsy is gonna show Hirschrun's, but if it doesn't, you've already done some treatment. Um, now, the issue I think that's important is the age. I don't really trust an aman under the age of one, but I will tell you, many gastroenterologists say I'm wrong and they think they can get an accurate rare. Of course, the Amen gives you other things that are very important. They can give you a resting pressure for the external sphincter. But you need a patient that's pretty much awake. If they're asleep, they're not gonna have a resting pressure. It's also nice to know about the pelvic floor. You need someone awake and cooperative to tell you that information as well. And the other thing that you, we, that is often seen in this 3 year old age group while they're trying to potty train is dysinergia. Right? So, the sphincter is just not working in coordination with what the body wants it to do and so that we often can elicit through anorectal manometry as well. But let me ask you, Caitlin, if you're going to the OR for a biopsy, first we'll take the 6 month old, then we'll take the 3-year-old. What type of biopsy do you do and why? If I had biopsied this child when I had initially seen them, I probably would have felt that a suction rectal biopsy in the clinic, I would have been able to get an adequate answer from that based on their age. And how many, where do you, where do you take the biopsy and how many biopsies do you take in the clinic? So here we do, we use a suction rectal biopsy gun and we take 3 biopsies. Um, uh, we take A biopsy at 1 centimeter, 2 centimeters, and 3 centimeters from the anal verge. And, and you know, I'm a big fan of history. It has to be noted that Helen Noblett, a pediatric surgeon in Melbourne, Australia, developed that suction gun that you used. Of all the icons in Hirschprung surgery, that that is the only woman who really made an enormous contribution in the early days to Hirschprung's care. All the other names are men, and I hope that obviously changes and just for completion's sake. Um, it's pretty safe to do a suction rectal biopsy in the clinic, but, uh, you do your suction rectal biopsy, send it to pathology, and 3 hours later, you get a phone call from the ER that the patient is bleeding profusely out the rectum. How does your fellow manage that problem? Rectal biopsies on the posterior on the back wall, so that's where they would be bleeding from, but a rectal, um, insertion of a digit and direct pressure on that area, um, to see if you can tampon out or stop the bleeding, um, is probably the first move. Yeah, I agree, they have to hold, hold pressure against the sacrum. It's exceedingly, exceedingly rare, but it is something that, um, a pediatrics surgery trainee needs to know. Just one last question about suction rectal biopsy. When you can do a suction rectal biopsy and when we can no longer do a suction rectal biopsy. I think that in our experience here, under 6 months is pretty reliable for getting an adequate specimen and getting a good answer. Um, between 6 and 12 months is a little bit more gray. It depends a little bit like, um, how big the baby is, um, over 12 months and Probably over 10 months, I'd, I'd take him to the OR to do an open, open biopsy. I would agree with that. I, um, do you have a different opinion, Jason? No, that's how I practice. I agree. I, but there's GI literature that says up to 6 years of age has been published, so then, and they have gotten adequate tissue. So what's a good biopsy result? What if Caitlin, you need to see on the pathology report for you to say, OK. This is Hirschrung's. You're, you're at the absolute mecca of Hirschrung's pathology. Um, and I mean we have to give a little homage right now to the pathologist at Seattle Children's Hospital, Doctor Raj Kapoor, please, as we're getting into this discussion. I need to see the absence of ganglion cells. 100 levels, no ganglion cells. You have to have enough submucosa in order to um be able to say whether or not the specimen is adequate or not. And The presence of hypertrophic nerves, hypertrophic nerves, and, and, um, Margaret Collins at my old stomping ground in Cincinnati where Jason is, is the one that defined that for the world. 40 microns greater than that would be hypertrophic. Anything less than that is not. Do not operate on Hirschrun's on absence of ganglion cells alone. That is, that is a massive statement you just put there, Mark, and I've seen it, and you can't just operate on just the absence of ganglion cells. Let's go through a couple of scenarios of inconclusive. So, let's say the biopsy specimen shows squamous epithelium. What's your conclusion? Uh, it's inadequate cause it's too distal. OK, I agree, and um, what about small or immature ganglion cells? What are your thoughts on that? I don't know what a pathologist would say, but a ganglion cell is a ganglion cell is a ganglion, and if you see a ganglion is not Hirschsprung's. Let's review another biopsy scenario. Ganglion cells are present, but the specimen is filled with eosinophils, milk protein allergy potentially, but um that's right. So there's an allergy. I will tell you that that looks a lot like Hirschprung sometimes. Milk protein allergy, um, but it's not obviously because they're ganglion cells. All right, ganglion cells present and hypertrophic nerves present. I get 10 emails a year with that question. If there are ganglion cells, it's not Hirschrun's period. Done, finished. The hypertrophic nerves are, are secondary because that's from constipation. Let's keep moving forward, OK. 3 years passed by or 2.5 years passed by and his child finally comes back to see you. Yes, and they get a contrast enema. Look at the first image of the contrast enema in the stay current app. I, I think the lateral is the most uh descriptive. Obviously, the, I'm looking at the the basically difference between the diameter of the sigmoid and the rectum, um, and the rectum really should be uh the widest part and it is not in this case very clearly. These older kids that we see with the primary diagnosis of Hirschprung's in the older years, they typically have a very short segment of a ganglionosis and their colon rest of their colon is able to, or even just mid to proximal rectum overcome that a ganglionic segment most of the time and they, that's how they get by for a while until the code is cracked, should always say. So this is a rectal transition zone. If this turns out to be Hirschrun's, then I suspect you're going to say it does because the story and the contrast study match, um, and in fact, was it Hirschrun's? Indeed, it was Hirschprung's. I did, uh, eventually, uh, take this patient to the OR to do a confirmatory biopsy, um, after convincing the family. In hindsight, even now I'm just realizing we should have, should have talked about when this family met you at 56 months of age, if they didn't want the biopsy and we had some moderate concern and Prungs, teaching rectal irrigations at that point could potentially have been. A saving procedure. Now, um, who knows what would have happened, and thankfully, this child did not have any of those issues. Let's get to the punchline. What did you, what were our options here, Caitlin, to, um, I guess you offered surgery. I guess I should say a little bit more about when they came back to me at 3, his abdomen was really, really distended, um, and he wasn't eating very much. He still had like a pretty poor growth curve. Um, and he was only stooling or pooping about once a week. And, uh, we ended up going with irrigations, and they did irrigations for about 3 months every day, um, in order to try to get this area to decompress a bit. I think that's wise. I think some might do a leveling colostomy. Some might do an ileostomy. Of those three, I would do aggressive irrigations for probably a month or two because I'm pretty sure I know that the irrigations would work because they'll get past the narrowed rectum. I'm not a big fan of a leveling colostomy in this case because the piece of colon is very large. However, if the patient was very sickly and the irrigations weren't working, And if the patient was having significant failure to thrive, I would probably do an ileostomy. I'm curious, Jason, what you would do. Yeah, Mark, I 100% agree. I think, I mean, to anastomos that large rectosigmoid region is a tough anastomosis. If I need to divert, I like to divert with an ileostomy. I've seen where you have a somewhat short or moderate segment of ganglionated but dilated bowel that probably won't function great and resecting that will give you a better functional outcome ultimately with your pull-through. But I've also seen, Mark, and I'm curious what you do. If you, sometimes I see that colon where it's just uniformly dilated throughout and would you either consider, you know, after the initial maneuvers of either diversion or Aggressive irrigations for a few months, do you ever consider tapering those patients? Yeah, I mean, I used to do a lot more tapering and I don't find the tapered segment functions all that well, um, and I don't taper without a diversion. If it was diffusely dilated, I would decompress them with a stoma. Um, and wait. And then it should shrink down and usually get to the point where the, most of the colon is pretty good, but the sigmoid is enormous, and then you do a pull-through to the normal caliber left colon, uh, or, uh, proximal. Proximal sigmoid and there's a nice match of circle to circle and a couple of nice tricks of making a slightly big circle match to a, a slight, a slightly smaller circle by putting stitches at 12, 63, and 9, and then continuing to divide between those, those stitches. I wanted to show also the follow-up contrast study. Look at the 2nd image in the Stay current app. Um, that shows that it really decompressed the large, uh, kind of rectosigmoid part that stays a little bit, uh, distended, like you're talking about, it's just that non-functional part since it's been stretched out for so long, um, but the descending colon kind of. turned into a really nice caliber for pull-through. I'm curious, Caitlin, is this a case for, um, for laparoscopy, mobilization and a little transanal work, or is this a case for potentially a transanal-only dissection? For this particular patient, because I wanted to take out that distended area, I did actually do a laparoscopic approach to mobilize that area and um and um bring it down. Um, plus I Just to confirm the level, even though I was pretty sure about it, um, from the contrast study. I personally, 10 years ago, may have approached this just transanally. I, I will eat my words and say now, um, definitely the safer way to go is laparoscopically for exactly the reasons, one of the reasons you said is to get a true level and make sure you get uh, a good full thickness biopsy, and then second, you do a lot of the mesenteric work. and dissection laparoscopically, thereby decreasing the amount of time that you're working transanally. The longer you do a transanal dissection, the potential for damage to the sphincter mechanism, either short term or long term is there. So I agree of resecting the dilated segment cause you have beautiful, you know, distal, uh, proximal sigmoid and descending colon to pull through and, and have a nice anastomosis. Mark, what do you think? Yes, I, I agree with all that. I will say that the only patient that I might do a transanal only on is this kind of patient because I'm very confident of the, uh, level, and I feel good that I can do a transanal-only dissection without stretching the sphincter at all. Basically, it's all. The operation at the anal level. I like to do that prone, but I would only do it in this older kid. He underwent a primary laparoscopic assisted Swenson, um, and then, uh, recovered well postoperatively, was in the hospital about 55 days or so. Um, and he's currently stooling well with a much flatter abdomen. That wraps up our case. This week, we discussed the delayed presentation of Hirstborn disease. We discussed key features in the history such as bowel pattern regimen and growth to help determine if patients need a referral to a specialist. We went over the workup and utility of a contrast enema to assess colonic dilation and possibly an inverted rectosigmoid ratio and anal reccommonometry to look for rare external sphincter resting pressure and pelvic dysynergia. We reviewed biopsy techniques and how to interpret the results. Finally, we discussed considerations for surgical timing and approach to achieve good outcomes. Uh, Caitlin, thank you for a fantastic case and a great discussion. Yeah, Caitlin, thank you so much. Awesome conversation, great case, and like Mark said at the beginning, I think it's very appropriate for many pediatric surgeons to see a patient like this come across their office. So it has come time. In the session for the joke, and uh Jason, I always like to try to make my jokes good to the time of the season, and so the US Open was just concluded and some great champions this year. This one's terrible. What do you call a girl standing in the middle of a tennis court? I'm Matt. That's my middle name. You don't even know that. Hopefully I didn't know that, but that's awesome. That's perfect. That's the joke for the day. Thank you very much. This was awesome. Mark, always a pleasure to see you. Thank you for tuning into this week's episode of the Colorectal quiz. I urge you to browse our previous podcast on the stay current app. Till next time, I'm Shimon Jacobs from Children's National. It's been a pleasure learning together with you, because knowledge should be free.