Hirschsprung

So welcome today to an EPIP special. I'm here today at the APSA 50th Congress and I'm here with Dr. Mark Levitt who to most of us needs no introduction. Dr. Mark Levitt is the section chief of colorectal and pelvic reconstructive surgery at Nationwide Children's Hospital and today what I wanted to do was use this opportunity to discuss some patients who have Hirschsprung's disease. So welcome Dr. Levitt. Thanks so much. Glad to see you here in Boston. Excellent. So what I thought we would do is we start with a newborn infant who presents at your hospital with abdominal distension, delayed passage of meconium and bilious aspirates and you suspect that this baby potentially has Hirschsprung's. I just wanted you to run us through what your initial management for this newborn would be. Yes, so that sounds like a very typical description of Hirschsprung's disease but remember there are many other causes of this condition that are not Hirschsprung's disease, both surgical and medical. So, you know, from a medical point of view I'd want to know how the delivery went. Was there a, you know, a premature rupture of membrane, something like that. Perhaps the mother received a mag sulfate or some other medicine that tried to attenuate her contractions. That can give you a significant ileus in the newborn period. Hypothyroidism, for example, is another one that can give you that. Any opiate overdose or opiate addiction that transmitted to the baby. So these all can look like Hirschsprung's disease. If the baby has been fed and has a milk protein allergy that can mimic Hirschsprung's disease, all these x-rays can look exactly the same. And basically you see a very distended colon and irrigations help even if it's not Hirschsprung's disease. So just consider the medical situations as well. Of course, the other non-Hirschsprung's surgical conditions that you need to be aware of is whether or not there's something wrong with the anus. If there's an anorectal malformation, even perhaps with the fistula, they might not get the stool out adequately and they may be distended from that. And of course, if there's no anal opening at all, they'll be distended quite quickly. Small left colon syndrome is to be considered. Colonic atresia, quite rare. But, you know, impressive distension from any atresia could theoretically confuse the surgeon. So let's say it's none of those things. And we believe it's Hirschsprung's disease. We would probably start with a contrast study from below. Okay. Water soluble and get a sense of what is happening. And of course, that may diagnose something like meconium plug and or meconium ileus. Now, meconium plug, 10% of those patients have Hirschsprung's disease. So our routine is if they pass a plug successfully and stool, we still do a suction rectal biopsy for confirmation. And then if it turns out to be Hirschsprung's disease, we actually will repeat the contrast study. Okay. Because the contrast study with meconium plugging the rectosigmoid will be dilated. But once the plug has been passed, you'll have a more obvious transition zone on the repeat contrast study. It's very typical that a contrast study gets done in a meconium plug and everything looks not like Hirschsprung's disease. And in fact, it is Hirschsprung's disease. So if it's classic Hirschsprung's disease, the contrast study will likely show a narrowing of the rectosigmoid and a dilation proximal. But any variation of that is possible depending on where the transition zone is. Of course, in the rare case that it's total colonic Hirschsprung's disease, often there's no obvious transition zone. Sure. So now I know that even getting contrast studies is not done all over the world. There's some places that don't do that. They just go right for the biopsy. I don't have a huge problem with that to rule out Hirschsprung's disease. Suction rectal biopsy is very, very good. Sort of a gold standard. But I like to have a contrast study as a surgical guide. Sure. I don't like going to the operating room without having a little bit of a GPS map of what the colon looks like. But I do know many places don't do contrast studies at all. Sure. Okay. So let's now assume, as you've said, you do the suction rectal biopsy. It confirms its Hirschsprung's. Would you just start the baby on regular washouts? Yes. So we would treat that baby medically with irrigations. The baby's clinically well, that's all they need. Yeah. If they're showing manifestations of enterocolitis, then they would probably need additional metronidazole added and obviously aggressive hydration. Remember, the stasis that's imposed by the physiologic obstruction leads to bacterial overgrowth, which leads to bacterial translocation because the mucosal integrity in a baby with Hirschsprung's disease is abnormal. Sure. It's the same. It's very important to remember that because a baby could be constipated and not past stool, but they won't get enterocolitis because their mucosal integrity is normal. Their IgA levels are normal. I think it's one of the reasons why Down's patients have much worse enterocolitis because they have worse or less of an immune barrier. Okay. And let's say you do the washouts, but the baby doesn't respond and you feel they're heading towards needing a stoma. What stoma would you do? Yeah. So that's a great question. So irrigations, first of all, need to be done properly and often they're done improperly and the surgeon can't just depend on the nurse to just do irrigations and make it up on their own. You need a protocol, a written protocol so the nurses know exactly what you mean. So I think it's worth maybe describing that if I might. Sure. So we use a 20 French foley, silicone foley, soft, bendable, and we put warm saline in maybe 10 to 20 cc aliquots at a time. And basically you're just washing the inside of the colon. As you inject the 20 cc's, you then remove this catheter syringe from the end of the foley and let it drip back. Move the catheter a couple of centimeters, give another 10 to 20 cc's and just keep washing the inside of the colon. And if you do this well, and it may take 30 minutes, you're basically cleaning the entire recto sigmoid and you should feel gratified. You should see that the baby is getting less and less distended. And those irrigations are often need to be done two or three times per day. Sure. So if you're doing the irrigations well, but you're not reaching the transition zone, then you won't improve the distension and you will not be satisfied. You don't feel like you're improving the baby. And that's luckily quite rare. Most of the time irrigations are very helpful. If that is the case and you feel irrigations are not working and you as the surgeon have confirmed that they're being done correctly and they're still not working, then you have a difficult decision to make. And that is, as you suggested, do a stoma. So in many parts of the world, that stoma would be a, quote, leveling stoma where the surgeon would go in and take the dilated bowel and bring it up to the surface as a colostomy with or without conformation by frozen section. My personal preference, since it's hard to know where the transition zone is by the surgeon's eye, is to do colonic biopsies and an ileostomy and wait. And the baby will almost guaranteed, be guaranteed to thrive with the ileostomy. And then you have all the data on the colon. Now the downside to that strategy is there are many parts of the world where an ileostomy is very difficult to manage and babies can get dehydrated very quickly. And therefore, it's not appropriate. So based on your clinical situation, you would decide. A leveling colostomy in the dilated portion to the surgeon's eye is usually accurate. But the last thing you want is to open a colostomy and it's still in transition zone. Sure. If you have helpful pathology at three o'clock in the morning, which is when you might need to do such a colostomy, then they see ganglion cells, you usually can be assured that you've chosen a good location for the stoma. Sure. But an ileostomy is extremely reliable, does not need pathology at three o'clock in the morning, and the baby will start stooling and feel well. And then you come back another day and manage your pull through based on the pathology results. Now, of course, that means three operations. Sure. As opposed to two. But I would rather do three straightforward, successful operations than have two and make one of them bigger and a little bit more risky. That's just my approach. And do you think it matters whether you do a loop or a divided ileostomy? Yes, I do. Well, there are loops and then there are loops. The concept needs to be that you are diverting the colon. So a loop where the two sides are equal would be inappropriate because stool will jump across and fill the aganglionic segment and the baby will continue to be distended and could even get an or colitis even though they're diverted. So if you're going to do a loop, then I would recommend a turnbull ileostomy, which means that you cut the bowel all the way on one of the sides of the loop. If you imagine an arch, you cut near the one end of the arch or rainbow, the side where the where the treasure is, right? There's the end of the rainbow as a treasure. And then you put your finger into on the outside of the small bowel and intussuscept it and it folds over and it looks like an end stoma. Sure. But the distal is open. Okay. And it's flat right on the skin. Or you divide the ileum and then just bring up the proximal limb and just tack the distal limb to the proximal limb. Sure. Both are fine. Yeah. I'll do either. I actually like the turnbull because it does give you some access to irrigate if you need to. Sure. Okay. So let's fast forward in time and say this baby did manage with the washouts. They had a successful pull-through procedure and now they're three slash four years of age. They've come to clinic and the parents are saying that this child is now only passing stools every three to four days, is having to strain a lot. And whenever the stools come out, they're very hard. So what would your approach for this be? Yeah. So we've passed medical and intervention and now we assume that the patient has had their pull-through, has done well, except now at age three or four they're presenting with a problem. Yes. So from a bird's eye view, you need to recognize that there are basically two problems that these patients will present with. One side of the coin is the obstructed patient and the other side of the coin is the soiling patient. And often, never the two shall meet. So which would you like to discuss first? Let's do the obstructed first, yes. Okay. So the obstructed patient, the typical story is that they had their pull-through, they may have done well for a time, six months or so, and then they started to get chronically distended. And they may have had several episodes of enterocolitis in the hospital or out of the hospital, but what sounded like an enterocolitis episode that may have needed to be managed with irrigation. And some of them actually have failure to thrive because they don't eat well because they're always distended. So that's the obstructed patient. And you as the surgeon need to say, why is the baby behaving that way? And you need to go through an algorithm of looking for the explanations. And there are anatomic and pathologic explanations. The anatomic causes are often connected to what the original surgery was. So for example, a suave without an adequately cut cuff, or a cuff that has rolled up, or a cuff that has refused, will cause a physiologic obstruction. Pull-through could be fine, but outside of the pull-through is the outer wall of the original rectum, and it's anglionic. And on exam, you will feel this rubbery circumferential ring outside of the pull-through. And that's a cuff. And then we'll go over the treatment for all of these. But then you could have a twist of the pull-through. If the pull-through is brought through the pelvis and twisted 180 or 360 degrees, you can have obstruction. You can also feel that on physical exam. Put your finger in, and you can't quite get into the pelvis with your digital exam when you're palpating on the abdominal side. You feel like you're hitting the wall. Contrast study will also show this. Potentially. You have to really have a good radiologist to show oblique angles. And the contrast study may also show a cuff in the cuff situation because there's extra space in the presacral area. So you need to take a look at the lateral and look at the presacral space and see that there's something there, that the pull-through is moved forward. That's not normal. The pull-through should hug the sacrum. And a cuff could be pushing that forward. Then for those who have undergone a Duhamel, the Duhamel may have a spur where the two lumens have not been successfully made into one. And the surgeon may have made a Duhamel pouch that's very big and reaches up into the pelvis. And that is obstructing. So the stool is flowing through the ganglionic bowel, entering the pouch and sitting there, causing obstruction. And then, of course, a transition zone pull-through could, of course, lead to obstruction. And if it's none of those things, oh, and I forgot to mention a stricture. Sure. And all of those things can be figured out by physical exam, digital exam, and contrast study. And if it's none of those things, then it could be the sphincters. Physiologically, those are non-relaxing sphincters in every Hirschsprung's case. So our routine is to get a contrast study in that patient, do an examination under anesthesia to find the, look for the anatomic things I've mentioned, do a biopsy. And of course, if it's a Duhamel patient, you need to do a biopsy on the posterior wall. Sure. Because the anterior wall is a ganglionic, because it's the original rectum. And we will Botox that patient empirically, because it might be the sphincters. Because if it's none of the anatomic causes, and the pathology is fine, then it's the sphincters, and you've treated them successfully with Botox. Yeah. If it's any of the anatomic findings or the pathology finding, then those patients will need a redo. Sure. Okay. And then let's take it then the other way. So the situation where, again, I know you've written specific papers on this where they are soiling. What would you do in that case? So the soiling patient's story is no distension, no obstructive symptoms, no enterocolitis, but they just stool maybe a few times a day without control. And the major question you have to ask is, what is their potential for bowel control? And every child born with Hirschsprung's disease has 100% possibility of having bowel control. Now that may sound crazy, but it's absolutely true. And why do I say that? Because the continence mechanism is normal. Yeah. If anything, their sphincters are too good. Mm-hmm. Right? They're certainly not weak. Yeah. This is very different than anorectal malformation. Sure. Where you can do an absolutely gorgeous operation, but because of an associated spinal problem or poor sacrum or poor muscles, the patient doesn't have the potential for continence. That's not true in Hirschsprung's disease. Sure. So the key is to understand whether the sphincters have been preserved and the anal canal, the dentate line, has been preserved. Mm-hmm. Because an improperly done operation by overstretching of the sphincters or by starting the dissection, the transanal dissection too low and essentially removing the dentate line, both of those circumstances will lead to fecal incontinence. Sure. So if you have a patient like that, so an examination on anesthesia reveals that. Mm-hmm. Then they need a mechanical program. They need enemas. Mm-hmm. Enemas from below, peristine or potentially a malone. Mm-hmm. An anti-grade option. Because they don't have potential or great potential because their sphincters or dentate line sensation have been iatrogenically affected. Mm-hmm. If the sphincters are good, and you can assess that by digital exam or just looking at them, if their anus appears closed when they're awake, that usually means good sphincters, and their dentate line is intact, then they should be able to be continent. Mm-hmm. Occasionally, we use an anorectal manometry. Yeah. To determine objectively whether the sphincters are in fact good or not. Yeah. And if they have those potential, if they have potential for continence with those mechanisms intact, then it's a matter of medical management. Do the stools need to be sped up? Mm-hmm. Or do they need to be slowed down? Mm-hmm. The vast majority of Hirschsprung's patients are constipated and need laxatives. Yeah. And I mean stimulant laxatives, not stool softeners. Yeah. The product we prefer is something with Senna. Yeah. Or with bisacodal to provoke the stool to empty. And a nice trick is to add a water-soluble fiber to that laxative to provide a little bit of bulk. Mm-hmm. Because watery stool is difficult for any of us to control. Sure. But you have the propulsion effect of the laxative with the bulk from the water-soluble fiber creating what I would call a good bowel movement pattern, one or two well-formed stools per day, which usually successfully translates into stooling. Now, be aware that that is a patient that might need Botox. They are withholding or they have not learned how to overcome their non-relaxing internal sphincter. Yeah. So Botox is often a requirement to help that patient get to the point of successful potty training. Yeah. Don't forget, there are patients that stool too much in Hirschsprung's disease. We often forget that. Mm-hmm. I've met a number of patients that have come to me being treated with Senna and Soiling. And I've done the absolutely brilliant move of stopping the Senna. Yeah. And within two days, the child is now continent. Yeah. And you can figure that out on X-ray. Mm-hmm. If you have an X-ray that shows no accumulation of stool. Sure. And the child is stooling five times a day, you can conclude they have fast-moving colon. Yeah. Contrast study is also helpful because it shows a non-dilated colon. Sure. I like that because you can see, is it dilated or not dilated? Mm-hmm. If it's dilated, it's a constipated patient. If it's non-dilated, it's a hypermodal patient. Sure. And those patients basically just need, again, a good bowel movement pattern. How do you achieve that? You need to slow them down. With a constipating diet, the addition of some water-soluble fiber, and occasionally low paramide. Sure. To get them to one or two form stools per day usually translates into continence. Okay. And do you recognize a particular group where they say that during the daytime, they're not in any nappies, they do stool, or they don't often stool, but at nighttime, they soil? So that's very typical because they are totally dependent on a functional external sphincter, which they're voluntarily able to control. Yeah. And when they go off to sleep, they're not aware of that. Yeah. And they will have accidents. So for those patients, we try to impose some behavioral changes, like making sure they try to stool before they go to bed. Yeah. And some of them, we actually will give a small enema. Yeah. Before they go to bed to try to keep the rectum empty. Yeah. For the next eight hours. Yeah. So they don't have accidents during the night. Yeah. Fantastic. Great. What sort of typical age would you undertake your Malone procedure? Yeah. So I think, again, a Malone is simply another route for emptying the colon. So if rectal enemas are not tolerated, which sometimes happens, or peristine does not cut it, it doesn't seem to be effective, or they don't want to use a rectal route. Malone is appropriate at the time of potty training, essentially, once we recognize that anti-grade flushes are going to be required. So I would say somewhere between age three and a half and eight or nine is when I'm doing most of my Malones. Okay. Most children should be in normal underwear by age three or four, I believe. And so whatever the family's needs are, as far as normal underwear is concerned, out of nappies, it's up to them. But that's typically around age four. Fantastic. Great. Thank you very much for the time that we've been able to spend with you today. We really appreciate everything that you've told us. And we look forward to having you again, potentially, in the series in the future. Fantastic. Thanks for inviting me. Thank you.