Welcome to another episode of the Colorectal Quiz. I am Philippa Jalius, Colorectal Research Fellow at Children's National Hospital, Washington DC. And today we'll be discussing Hirschsprung disease. Make sure you download the Staker and app to follow along with images and other related cases. Today we are joined by Dr. Mark Levitt from Children's National Hospital and by Dr. Jason Frischer from Cincinnati Children's Hospital. Dr. Frischer will introduce our very special guest today from Houston, Texas from Texas Children's Hospital. We have two fantastic surgeons with us today who work in their colorectal center there. And we have Lily Chang and Christy Raylan, who really are great partners and leaders in the field. So today's case brought to us by Dr. Chang and Dr. Raylan features a two-day-old baby delivered by C-section with a prenatal diagnosis of trisomy 21. And I'll let Dr. Chang provide the rest of the details. On day of life two, Pediatrics Redu was consulted because he had not yet stooled and was having non-bilious emesis with every feeding. Okay, so the differential of a baby who hasn't stooled by day of life two can be vast. And honestly, is how many of these colorectal quiz cases start out by the exam should help us narrow down to both the diagnosis and the acuity of this case? On exam, he was distended, tender. He's also lethargic and febrile. And notably, his labs were remarkable for a white count of 33,000 and a platelet count of 107. So the NICU is understandably worried about sepsis in this baby and has started antibiotics and septic workup. However, not every septic baby needs a pediatric surgeon. So what about this case clued the NICU team into a surgical pathology? Dr. Chang has some insight. Yeah, I think it was the physical exam. The baby was very tender on exam, was erythematous over areas of the belly, was very distended. Also, P.S., this would be a good time to check out the stay-care app because there is an abdominal x-ray from day of life two. Dr. Levitt can help to point out the important details. Take a look at the KUB that was done on day of life number two, which to me shows a lot of distension. Very hard to know, but it's probably a lot of colon because it seems like there's a rectosigmoid down in the pelvis. Plus, we have this prenatal history of trisomy 21, which we have learned in prior podcasts can be associated with Hirschsprung disease. Trisomy 21 is associated with a higher incidence of Hirschsprung disease. I think about 50 times higher than in non-trisomy 21 patients and about 5 to 10 percent of Trisomy 21 patients have Hirschsprung disease. Dr. Levitt does note that not all children with trisomy 21 have their underlying Hirschsprung disease identified this early in life. I still have to say, though, I still see the patient with trisomy 21 with constipation referred later in life for a possible rectal biopsy. So not everyone knows what you just said and gets panicked about Hirschsprung disease in a trisomy 21 patient. All right, so back to the case just to recap. This is a two-day-old baby with trisomy 21 and a concerning exam being treated for sepsis. Given the genetic associations and the severe abdominal distension, there is high concern for Hirschsprung disease in this child. So what should we do first? So in this patient who is presenting with signs of sepsis, we wanted to treat first and kind of ask questions later. So we started with rectal irrigations, 20 mLs per kg three times a day, and started IV flagell in addition to the other antibiotics he was on. Dr. Cheng and her team continued this strategy until his leucocytosis is normalized and his exam improved. Now, here's a question for the experts. Are there ever patients that should go straight to the operating room and not first try irrigations? I guess free air, I would say go to the OR, otherwise irrigate. Dr. Frischer mentions you can irrigate with free air, but the logistics of irrigation as a bridge to the operating room can be challenging, and so straight to OR may be the most realistic plan. Free air, irrigation, you could irrigate, but I don't, the time it takes to irrigate, you're not getting to OR that fast for anything. Now, I think I agree, Mark, if you see free air, I don't think irrigation is the thing to do. You're going to stir up the pot, but an irrigation typically is going to be the lifesaver for these types of situations. In these patients with free air, the perforation pattern for Hirschsprung disease is different than in other pathologists, such as anorectal malformation. Very rare that either one of them have free air in the newborn period, but they have free air in different, they have holes in different locations. Any thoughts before I give it away? I think for Hirschsprung's, it's in the cecum, is that right? Yes, and then you can confidently say that the transition zone is probably somewhere around the hepatic flexure, because then the right colon gets very dilated because it has nowhere to empty, and the cecum, because of Laplace's law, which we remember back from physics or geometry or whatever, that's where the cecum perforates. All right, and there is our physics lessons for the day. Dr. Levitt truly is a man of vast knowledge, but where do patients with anorectal malformation perforate? Now, in an ARM patient, where does the patient perforate? Sigmoid? Yeah, so that typically is the sigmoid colon, right? And it's a very, it's a linear, like a longitudinal tear along the tinea. I've seen it a couple of times in patients who had delayed diagnosis of imperforate anus. Yeah. I think, Mark, I think I've seen perfs in transverse colon, too, but when I go in and you take a baby to your OR with free air and you find a perf in the cecum, that to me sort of cries rectal biopsy. Yes, I would agree with that. And most of those patients would get an ileostomy. And then in the long run, you'll probably find that the transition zone is hepatic flexure. Okay, so we know now the spectrum of management options from irrigation to OR. But accurately, irrigation can be life-saving to aid in the compression of the abdomen. Doing these irrigations properly is important and something that all neonatologists, surgeons, and even ED doctors should know how to do. It's very important. You need to break the cycle of the physiologic obstruction. They are obstructed both at the sphincter level and in the aganglionic segment. And you have to break that cycle by getting a tube across it and then a lumen of that tube then to allow for egress of that stool because it's the stasis that's the problem. It's the stasis, the bacterial overgrowth. That overgrowth leads to translocation and that's where the sepsis comes in. A few key tips to irrigations for those listening. To me, an irrigation is instilling a small aliquot of saline, usually warm saline, somewhere between 20 and 40 mLs at a time. And it's instilling it in and getting it removed, whether that be by withdrawing with a catheter so that you evacuate that saline and not just infuse it into the lumen of the colon, I think is important. Some people have different methods. We typically say until about clear. Just make sure you're using warm saline because in a small child, cold saline can really change the temperature of the child. These irrigations happen a few times a day, especially in sick children. In our two-day-old kid, these irrigations were done well and the patient improved. We also had started IV philagyl at the same time. We kept the patient NPO. And I think if you're following on the StayCurrent app, we have a KUV from Day of Life 7 that shows how the patient's abdomen looked after five days of irrigations. That IV philagyl is critical because the septic source isn't the dilated bowel itself, but the Hirschsprung enterocolitis. Also, as a reminder, Dr. Leavitt and Dr. Frischer have a really great algorithm for initial management of Hirschsprung's disease that you can find on the StayCurrent app. Okay, back to our case. So you have a well patient. Things are better. You've clearly made a huge difference. You haven't operated. Very interesting, right? Hirschsprung's is almost never an emergency operation. Almost never. And irrigations usually win the day. In fact, many people are, many surgeons would irrigate, let the patient go home on irrigations. This idea of irrigations and home is something we have talked about on other colorectal quizzes about Hirschsprung disease. So definitely check out some of those episodes. In this case, we need to move forward with confirming the diagnosis. We haven't done that yet, have we? Right. Yeah. So since the patient is clinically better, we decided to get a contrast enema at this point. And in the app, you can see the contrast enema that we got on day of life 12. Okay, so what do we need to pay attention to here? Dr. Chang and Frischer clue us in. You can note that the recto sigmoid ratio is very obviously less than one in the contrast enema on the sagittal view. And you also see in the rectum some sawtoothing that I think is indicative of not just Hirschsprung's, but Hirschsprung's associated enero colitis. Well, I would even add that there's hyperperistalsis. You can actually see the enero colitis more in the left colon. And the sawtoothing is the rectum is hyperperistaltic. That's very classic for Hirschsprung's disease. And this diagnosis was confirmed on the rectal biopsy findings. The biopsy showed that there were no ganglion cells and hypertrophic nerves. The pathologic evaluation is even more in-depth than that. So you must have the absence of ganglion cells in 100 levels and the presence of hypertrophic nerves greater than 40 microns. And that's why frozen section will never be able to tell you for sure it is Hirschsprung's disease. It will only be able to tell you for sure it isn't Hirschsprung's disease because to know it is Hirschsprung's disease, you need 100 levels and no ganglion cells anywhere. And our pathologists here, and I'm not sure what's done at your two places, also do a calretinous stain because if the calretinous is present, that means there are ganglion cells nearby. If the calretinous stain is absent, then that further confirms that it's Hirschsprung's disease. Okay, so case recap up to this point. So we have our infant with history of trisomy 21, initially presented with distension and sepsis. The distension was managed with rectal irrigations while the enterocolitis was treated with flagell. Now we have a rectal biopsy confirming the diagnosis and the baby's overall doing well. Okay, so what is the next step? Let me, let's hold here because I think this is one of the great questions of this case, is the timing of the definitive operation. A patient that a week earlier had significant enterocolitis, or 10 days, 10 days a year or so. Lila, did you go to the OR with the plan to do the pull-through or just to map the colon? I think just to map the colon. We didn't really think we were going to do the pull-through and we confirmed at the time with diagnostic laparoscopy that the colon still looked sick. So what are they talking about here? Are there options? I mean, there's no right or wrong here, but what are the options that you have in a patient that's now sort of recovered and became healthy from enterocolitis, has it diagnosed the Hirschsprung's disease? What are your options? Yeah, I, um, that contrast study I would have read as a little bit of enterocolitis still happening, even though the patient was clinically well. If it was a reliable family and irrigations were going well, I probably would have sent them home for a couple, a month or two, and then brought them back for their definitive operation. And of course, started with laparoscopy to map the colon, probably somewhere in the sigmoid because irrigations had been going so well. I'm not sure I would have taken them to the OR on day 14. For what? What do you need? What do you need that data then? You know it's Hirschsprung's and you know you're clinically succeeding with your irrigations. Unless you felt that you needed to go to the OR to divert the patient because irrigations were not winning the day, that's a different story. So that's what Dr. Levitt would do. How about Dr. Fisher? I agree with Mark. I would wait minimum four weeks from getting healthy after treating enterocolitis, maybe even longer before doing this. And I think there's good literature out there from the PCPLC and Michael Rollins on outcomes of Hirschsprung's disease and delayed treatment and delayed mepeter, wrong term. But just doing the definitive surgery, they looked at about three months out and had similar outcomes. So I think it's okay to wait to do the definitive surgery as long as the patient is receiving good irrigations and growing and healthy otherwise. Now all of that changes if the baby isn't being fed because in that case you have a patient who is improving but unable to get enteral nutrition. So in that case, diversion is a reasonable next step. Let me ask you, I don't know if you mentioned it, but was the patient being fed? Was not being fed. Okay, so then this makes a lot of sense. You have a patient who you are irrigating, who has clinically improved, but you're sort of stuck. And I think it's very reasonable to divert. Again, we'll talk about colostomy versus ileostomy. And then feed away and come back in the future. If you are feeding and irrigations are going well, then I would say go home. If you don't have a well enough patient that can be fed, of course you have to do something. And what is that something? Diversion. So it seems like that's what you were dealing with. This guy, this kid needs to make progress, needs to get home. Okay, so once we are in the OR for these leveling biopsies, where do we start? What some people might do is a bunch of biopsies that aren't necessary. I would go right for the money and go to the sigmoid. Again, frozen section, not as accurate, but if you see ganglion cells and you can say that's probably a good segment. You don't then have to do other biopsies. I have seen patients, I don't know if you've seen this scenario, Jason, where someone has done this mapping, but they never sampled the right colon. And then the patient has an ileostomy and the sigmoid and left colon are no good. And they have concluded that the patient has total colonic. Maybe they sent the appendix, which is a complete mistake. So I've had patients like that where I have checked the hepatic flexure and to everyone's happiness and surprise, it was ganglionic. So if you're going to map, map it all or just go for the money. And that is sigmoid, wait for frozen section. And if there are ganglion cells there, that's all you need. Right. So I think there's two scenarios, whether you have frozen section or not. If you have frozen section available and you get ganglion cells, then I don't think you need to do further mapping. If you don't have areas we go and operate or areas that don't have frozen section, I think you need to map the whole colon. And I usually do a, I'll do a left colon, a transverse colon, and a right colon, a hepatic flexure slash. Because I think once you get past the hepatic flexure, sort of distal ascending colon, sort of hard to pull through. Like I don't, my seco pull throughs don't succeed very well. No, no, that, yeah, I agree. I would only pull through the full right colon. If it was anything less than that, they should have their colon removed. An ilioanal, that would be my preference, or an ilio-duhamel, depending on what your preference is. And I think, I don't want to underscore the sentences or statement you made, do not biopsy the appendix, that's not helpful. Save the appendix for maybe future use. In fact, many patients' appendixes are a ganglionic. Okay, so now we get to the big question, colostomy versus ileostomy. What goes into that decision making? First, we need to realize there are really two distinct scenarios here. Let's separate the two scenarios. One scenario is ill baby, not winning the day with enterocolitis, or somewhat ill baby, irrigations are going well, but we haven't fed the patient. That's one, do I divert or not, meaning you go to the OR to divert. The second situation, which I think, Christy, you're alluding to, is you go to the OR to do your pull through, but you don't find ganglion cells, and then you have to divert because you haven't found the ganglion cells in the sigmoid or left colon. Now, the second isn't exactly relevant to our case, but still important to think through. You're going to the OR electively, and you're ready to do your pull through, and you biopsy your sigmoid in your left colon, you get no ganglion cells. In my opinion, you should not do a pull through that day because you want to be absolutely certain that you have permanent section before you throw out any useless colon. So if that's the case, I would biopsy transverse colon and hepatic flexure and do an ileostomy. I would send frozen on the ileostomy to make absolutely certain that that ileostomy is going to work and quit and come back another day, and you're going to find, who knows, total colonic herpes or the transverse colon is good. Now, that is different than our patient case, where we are going to the operating room with the intention to divert. Then the question is, do we do a leveling colostomy, i.e. frozen section, open the stoma, or biopsies and an ileostomy? So that's a tough call, and I think every surgeon is a little different in every scenario, and where you're doing the surgery is different. And you have to be careful about frozens in the setting of inner colitis and basing your decision at that point on a frozen, if you think that there's active inner colitis. Yes, that's very interesting. I encountered that recently. Do you have insight into that, where they couldn't read the ganglion cells because there was too much inflammation, and I was stuck? It is also a different situation in areas of the world where frozen sections are not easily available. Remember, much of the world does not have a frozen section even available to them, and their strategy in those places is to bring up the dilated portion, which you're more likely to be functional. And in those places also, bringing up an ileostomy, you're not going to have a patient that is going to have quick enough access to medical care if they get dehydrated with that ileostomy. So an ileostomy is really not an option in many parts of the world. You've got to bring it up in a dilated portion. Now we are really trying to use available technology to help children in parts of the world with limited access. We now have partners where they will biopsy, do segmental biopsies, sigmoid, left colon, transverse, right colon. They do their diversion. But if they then do H&E stains, they don't have pathologists, but we can get them to do H&E stains. And now with Zoom and getting just a camera on a microscope, which is not very expensive, we can get those images sent to us, and we can now evaluate for ganglion cells. And just by pure numbers, 80% are rectosigmoid Hirschsprung's disease. We're saving a lot of colons by sort of using modern technology of sending images through the internet. Necessity is the mother of invention, as Ben Franklin said. My new motto is let's try to save colons. Maybe we should make that the new tagline of the colorectal quiz. I'll bring it back to the group and workshop it. But for now, back to this key question of ileostomy versus colostomy. Let's answer the question we, because I think this is the second key question to this case, is I'm a fan of doing ileostomies in these cases where we need to divert and we have time and we're in a place where we're able to keep the patients hydrated well. 100% agree with Mark. A lot of places, if you can't keep the patient hydrated and they don't have easy access to healthcare, doing a colonic ostomy of some form is probably better. But I like to do it. And here's the reason why, because I do a lot of pull-throughs of patients that have a diverting colostomy, and I find it sometimes hard to get it to reach. I think that mesentery is shortened a little bit because it's divided and then it gets inflamed. I agree exactly. And I would do exactly the same thing. I would map and then do an ileostomy. I would do a frozen section on the ileostomy just to make absolutely certain that it's going to function. We are blessed with the ability to do frozen section, but the vast majority of those patients, that ileostomy is going to work. And that's what happened in this patient. The baby received a diverting ileostomy, a pull-through, and then an ileostomy closure in a three-stage fashion. Now brings up the question of Botox and enterocolitis prevention. Let's talk about that briefly. How do we prevent enterocolitis? And I will tell you, if you do a good job with your pull-through and you do an elegant technique and you preserve your anal canal and you don't overstretch your sphincters, you're going to get some enterocolitis. And I think I've told this story already on the podcast, but when I was working with Alberto Pena and he opened up his bowel management program for patients with fecal incontinence, a lot of patients from the Hirschbrungs arena came to the bowel management clinic for fecal incontinence. Why? Because the surgery that was done had overstretched their sphincters. But guess what? None of them ever got enterocolitis. So if you want to prevent enterocolitis, destroy the sphincters, because then you'll never get enterocolitis. Well, Dr. Levitt, that seems a little counterintuitive because we all want to do a good operation. Of course, you want to do an elegant technique and preserve the continence mechanism. And if you do that, you by definition preserve the fact that they cannot relax their internal sphincter, as is true for all Hirschbrun's patients, and they therefore are susceptible to enterocolitis. Okay, so while that anatomically makes sense, Dr. Raylan, how does Botox factor in? Botox is an interesting subject. I think it's debatable at this point. We have been doing Botox at the time of the pull-through based on Jason's study or his ongoing study. I know there's some literature that suggests that doing it at one month does not prevent enterocolitis. Yes, we're very proud of our negative study. I think that's a great study, Mark. You want to tell us a little bit about that? Richard Wood and I in Columbus had... Well, I will tell you, we got the idea from Mike Helmrath, who's in Cincinnati, my dear friend, who said we should Botox at the time of the pull-through. And so we said, great, great idea. So we went to our IRB, and they said, no, we don't want to approve that because we're worried that the Botox would affect the anastomosis. So we were not approved. And Richard and I were like, but it's a really good study. We want to do it. So let's do it at one month. We got that approved. So we started to do EUA Botox at one month. And we studied it. And guess what? It didn't help. So we published negative data. Then the group in Cincinnati with Dr. Helmrath and Dr. Frischer have altered the protocol to apply Botox at the anal sphincter at the time of restoring intestinal continuity. So we've been doing that. I don't have data to share that of an outcome. I will say, I know we have a few patients that definitely got enteroclitis that were in the protocol. So it's definitely not 100% full proof. And we definitely have increased diaper rash issues. So we know we're putting it in the right place. We've done a retrospective study on how the patients did without getting Botox injection. And now we're doing the prospective part of seeing how the patients do. So it's not randomized. It's sort of a retrospective as our baseline and prospectively looking. And we're in the, I don't know, somewhere mid-30s right now of patient collections. Enterocolitis is a significant comorbidity of Hirschsprung disease. And everyone who takes care of these patients should know the signs and symptoms. Additionally, explicit instructions should be given to patients and families. We send the families home with the equipment to irrigate. That's a must, right? And also we teach how to irrigate before we do our pull through so that they are, and make the parents practice whether the child has enterocolitis or not pre-op so that they know how to do it. Because I don't love that catheter going through the anastomosis post-up day five when they're ready to go home or, and having issues. So I think you're dead on. Education is so key and preparing the families for this is life-saving. Okay, so we are wrapping up this episode, but we cannot close out a Colorado quiz without a joke. And I think it's Jason's turn. You ready? This is a good one. And I dedicate this to Brad Warner. Is butt cheeks one word or two? Or should I spread them apart? Okay, that's pretty terrible. You could definitely see Brad saying that. I want to thank our partners and friends from Texas Children's, CCH, Christy Rylan, and Lily Chang for their time with us on this podcast and for sharing some insight. Thank you. Thank you all for joining us for this episode of the Colorado quiz. And remember to download the CCHRAN app from the Apple App Store or the Google Play Store to check out the images and algorithms we discussed in this episode. Additionally, remember to follow us on social media and check out our YouTube channel for more pediatric surgery content. Thank you. I just one. I like the one. I like the one. I like the one. I like the one. I like the one. I like the one.
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