 Thank you for the invitation to speak to that. We will go through anal rectal malformations, which I think is actually fascinating and complex topic. We'll spend a lot of time talking about the different types because that really dictates what happens for these patients, both in surgery and then long-term. We'll talk a little bit about the surgeries, and then we'll talk at the end about what happens to these patients after their surgical corrections and where to go if you see them in your practice. I have no financial disclosures. I will say that any good talk on inter rectal malformations has to show a lot of pictures of the genitalia and the anus. So if you are at a computer that is in a public location or you have your kids running around, be aware that those pictures are coming. I'll warn you again before we get to them. So the objectives today, we're going to identify the types of inter rectal malformations. We'll name the main goals of surgical repair, and then we'll work on understanding the long-term prognosis and treatment for these patients. And as just a quick overview, we'll go through some history, embryology, epidemiology, then we'll really get into those classifications and like I said, the surgery and the long-term prognosis and care. So no surgical talk is allowed without at least one old white guy picture. So we have Dr. Amuset who was a surgeon in the United Kingdom back in the early 1800s, who's credited with the first analplasty, the first attempt to correct this surgically back in 1835. But really even centuries before that, this problem had been described, but very little was said about it, leading most of us to believe that this was going untreated. So some kids with potentially perineal fistulas were able to kind of eke along if the opening didn't get strictured down and cause obstruction. But most of these kids probably passed away very early on from obstruction. But the current treatment of interrectal malformations was really revolutionized by Dr. Alberto Peña, who is a surgeon from Mexico, came to train up in the US and then has really been not only developed the PSARP, the posterior sagittal interrectoplasty has changed the way we do surgery for these patients and the outcomes for these patients, but has really campaigned around the world to bring this technique to everyone so that every child has an opportunity to get a procedure that gives them their best shot at continents down the road. A little embryology, so the urogenital sinus and the hindgut come together in the early development. And form the cloaca, which as we'll talk about later is really just a term that describes the common channel for stool and urine. It's a structure that some animals can keep through out life, but about seven weeks into gestation, the urorectal fold comes down and divides the cloaca into the urogenital sinus anteriorly and then the rectal canal inferiorly. The ectoderm actually covers over these openings, which later recanulize. And the thought is that in anorectal malformation, this separation with the urorectal fold just never occurs, although the studies that we have on this aren't very good and it continues to be an area of debate. And then finally before we get to classifications, a little epidemiology in the classic congenital disease numbers, if you guess about one to four and 5,000 for a congenital anomaly, you're probably pretty close and that is exactly what anorectal malformations are. There may be a slight male predominance, although not particularly strong. And then although there is some genetic component that is not well understood when counseling parents, we usually say if they have a child with an anorectal malformation, the chance of them having a second child with an ARM is about 1%. There are certainly associations. Everyone will be familiar with the Vactral Association, which obviously anorectal malformation plays prominently in. There is a association with trisomy 21 with imperforate anus with no fistula, which we'll see is a accept among this population is very uncommon. And then there have been some associations identified with IVF, maternal diabetes, and phyllidomide use. So now getting into the classifications of these anorectal malformations. Certainly one way to look at them that is important is how they divide up between males and females. Both males and females can have perineal fistulas. They can both have rectal atrijas and they can both have imperforate anus without a fistula. In males, the structure just anterior to the rectum is the urethra and bladder. And so when a male has a anorectal malformation, it tends to fistulize to these structures, either the urethra, which we divide into the bulbar urethra or the membranous urethra that's distal the prostate and then the prostatic urethra, which is more proximal. And then you can also have a rectovascular fistula or a bladder neck fistula where the rectum actually attaches directly to the lower part of the bladder. And finally, you can have, although very rare, you can have an age type fistula where the anus is actually normally placed, but there is a connection to the urethra. In females, we most commonly see a rectovastibular fistula, which is an opening that occurs just posterior to the vagina. Very rarely, we'll actually see it connect to the vagina and rectovaginal fistula. And then we will also see cloacas where the urethra, vagina and rectum continue to have a common channel that brings up a whole another set of issues. And you can also have some more complex malformations. So looking at these classifications with some incidents next to them, so you can kind of understand which types are most common, you can see that for males, it's really the recto urethral fistulas that are split pretty evenly between bulbar and prostatic. So that's the vast majority of them, 70%. And then bladder neck fistulas are about 10%. Paraneal fistulas are about 10%, and the remaining fistula types are about 10%. For females, you can see that the overwhelming majority are rectovastibular fistulas. So again, about 70% are that type, with about 20% being perineal fistulas, and then 5% or less are true imperforate anus or cloacas. We're gonna go through some pictures. I think these are very illustrative to kind of understand exactly what the anatomy is, and then it makes a lot more sense what we do to treat these. So probably the simplest type is the recto perineal fistula. You can see here just posterior to where the rectum comes out. This is the sphincter complex, which is where the rectum should be and where the anal opening should be. So in the male, this fistula has occurred just anterior to the sphincter complex, although obviously it can occur kind of anywhere along the perineum from the sphincter complex all the way to the scrotum. And you also see, I think it's important to note that oftentimes, even when there is a perineal fistula, there is a close association between the wall of the rectum and the urethra, which is important during surgery to realize. And then in females, again, we have the sphincter complex and just anterior to that, we have our perineal opening, our recto perineal fistula. And in this case, obviously the vagina is gonna be in between the rectum and the urethra, so we are better protected from damaging the urethra. It makes it essentially impossible to damage the urethra during these procedures in a female. Now looking at some male urethral fistulas, we have the rectobulver fistula. So here is the bladder, here is the prostatic urethra, and then after it makes that turn, you get the bulbar urethra, the membranous urethra. And so this on the outside is gonna look like an imperforated anus, but in fact, it's a recto urethral fistula. And these patients may present with UTIs or stool from the penis, but oftentimes the opening is small enough that you won't necessarily see that before surgery is done to divert the stool stream. Very similarly, another recto urethral fistula, the rectoprostatic fistula here, the fistula is just higher up on the prostatic part of the urethra, and then a bladder neck fistula where now we see the fistula coming into the bladder itself. These will oftentimes be a little bit larger and can have stool coming out of the urethra more often. And here we have a colostagram where after this patient has been diverted, they are instilling contrast down the distal part of the colon, fills up the rectum, and then we can see the connection to the bladder neck, and obviously it fills up the entire bladder and you can see the bladder even emptying into the urethra, but all this contrast is coming in through the mucus fistula. And then finally, you can have an imperforated anus with no fistula like we talked about. This is rare, but does occur. And again, there is no fistula to the urethra, as we can see in this picture, it doesn't mean there that the rectum is distant from the urethra, so injury is still possible during that surgery. All right, switching to female anatomy now. We've got the recto vestibular fistula. Again, the anal sphincter complex is here, and now very similar really to a perineal fistula, but a little more interior where it's actually in the vestibule, just posterior to the vaginal opening. And this is commonly, you'll get a call from residents all the time telling you that they've got a vaginal fistula, and is what they almost always mean is a recto vestibular fistula. And then a cloaca on the left side here, you see a short channel cloaca here. The rectum, the vagina and the urethra are opening into a single common channel, but from the exterior is all you would see is just that single opening. And then on the right, similarly, a cloaca, but here has a longer common channel. And then finally, a cloaca with hydrocopus. This is one of the main complications that we see with the cloaca that is not, this can present this way very early or if it's not recognized, can develop where you have, and these fluid collections can become enormous and sometimes have to be drained through the abdomen. All right, so, sorry. Here is the part of our talk that we're gonna get to some more explicit pictures. So, be warned. So, when examining these kids, particularly when trying to examine females, another common teaching point for residents is, they'll tell you, oh yeah, they have a perineal fistula and the immediate question you wanna ask is, did you look into the vagina, into the urethra? Did you identify three openings? And the way to do that is exactly what is being demonstrated in this picture, where you grab the labia majora and pull not so much out away from each other, but really out towards you to create better visualization. And so, here you can see a tiny opening for the urethra, a normal vaginal opening, but instead of the anus being placed in the sphincter complex, this looks to be a perineal fistula in a female. On the left side here, we have a male who right at the base of the scrotum has some stool and a small opening. So, that is a perineal fistula in a male. And here, this opening obviously is very difficult to see to the point that you needed to use an instrument to cannulate it so you could really see it, but you see a vestibular fistula in a female. Now, on this one, the anterior aspect is the bottom of the screen, so posteriorly is at the top. We see a very flat bottom, and this is actually kind of a subtype of a vestibular fistula. This is called a foreshet fistula where the fistula is right at the edge of the vestibule so that the posterior aspect is actually normal epithelialized skin like a perineal fistula, but the anterior aspect is the more mucous, mucosa type epithelium of the vestibule. And then on the right side, you see a true vaginal fistula, which again is extremely uncommon. And I would question anybody who said they found a vaginal fistula, but this one you can see the fistula actually opening inside the vagina. And then this again is a very classic rectivastibular fistula at the very posterior aspect of the vestibule. So this is one that we will see occasionally here. You have what looks like a very normal anal opening. You've got a sphincter complex there, but obviously it is right next to the vestibule, very anteriorly displaced. And we will occasionally get called, usually not about one this extreme, but where the team is concerned about an anteriorly displaced penis. And although it clearly is anteriorly displaced, this is not an anorectal malformation. And there's nothing surgically to do about this. We can move the rectum into the anal complex, anal sphincter complex, but in this case, the rectum is in the sphincter complex and we can't make that any better. So every once in a while you'll get this call and a resident will have already gone to talk to the family and explained all the surgical things that are gonna need to happen. And then you have to kind of talk them down that, oh no, this sphincter, this rectum opens right in the sphincter. This is the best chance that they have at good bowel control incontinence. All right, a couple more images of male anorectal malformations. These you will see typically with lower imperforated anuses without fistulas or perineal fistulas that you'll see a bucket handle or you'll see beating of stool or meconium in the median raffae. And sometimes it'll go partway up the scrotum as well. And then the last images I wanna show are cloaco. So on the left side, we see, again, pulling on the labia majora, seeing inside the vestibule and here there's only a single opening indicating a cloaca. Again, we have the image of that at the bottom here. And then it took me a long time. You hear the term cloaco extrafee and I assume for a long time that it was very similar to a cloaca. But as you can see on the right side here, it is very different from a cloaca. So if you hear that somebody has cloaco extrafee, realize that that is a very different disease process, although on the spectrum of anorectal malformations is obviously a much more complex problem. Here you have the infallibule labeled as O. You have two hemi-bladders. So urethral openings will be down here somewhere. And then you've got the cecal plate, which is an area of cecum with a prolapsed ilium and then two biped fallacies down here at the bottom. So we are not gonna talk about cloaco extrafee. It is a fascinating topic that you spend an hour on by itself, but it is extremely rare. I bring it up more to make the point that cloaco extrafee is a very different process. So not to be confused with just a cloaca. All right, I'm gonna switch gears a little bit now. No more pictures for a while and we'll talk about the surgeries that we offer these children. So as an overview of the ones we'll talk about, a lot of these kids get colostomies temporarily. We then usually will perform a P-SARP, posterior sagittal-interrectal-plasty, plus or minus a laparoscopy or laparotomy depending on how high or low the malformation is. We're not really gonna talk about urogenital sinus mobilization, but that is something that is done for cloacas or a common urogenital sinus. And then we'll talk very briefly about perineal reconstructions in children who usually with cloacas have such a small vaginal tract or canal that they need it to be augmented. So we are back to our classifications. Again, like we talked about the treatment and prognosis for these kids is very much based on what they present with, what type of fistula it is. So as we can see in this slide, all of our highlighted fistulas are gonna require a colostomy. If there is no fistula and a true imperfectionis or really all of the urethral or bladder neck fistulas and boys, and so you can see that in boys, 85 to 90% of these kids are gonna end up with a colostomy. The only ones that aren't are children who have a perineal fistula that can be dilated and they can avoid any obstruction through just dilation of the fistula until they're ready for surgery. On the other hand, for females, the vast majority of them can avoid a colostomy. It's really, again, only the true imperfect anuses and the cloacas that end up needing a colostomy. And anybody with an opening either to the perineum or to the vestibule can avoid that. So talking about the goals of surgery, the big one, and I think this seems a little silly because most of the time we catch this very early, the kid hasn't really demonstrated bowel obstruction. He's not big and distended, but if it is missed, if you're in a different part of the world that doesn't have the same access to medical care that we do, or in some cases, if a child is on a lot of positive pressure ventilation because they have other things going on, then it quickly becomes evident how big a problem bowel obstruction can be. So most of the time in these children, this gets immediately identified. The surgery a team is called the same day and the following day will bring up a colostomy if needed or will dilate the fistula to make sure that stool is able to evacuate normally. As long as stool is able to evacuate, then you don't have this issue of obstruction. But in kids, males with anything but a perineal fistula or females who don't have a way to evacuate the stool, obviously it only takes 24 to 48 hours for their intestines to be working stool through the system and causing obstruction. I've seen this happen with positive pressure ventilation that was not recognized. And you can get into a vicious cycle where the plan is to do the colostomy in the morning. The kid is needing more pressure so they amp up the positive pressure ventilation. That is putting more gas into the abdomen. The abdomen is getting more distended, pressing up on the lungs. Now they need more pressure to overcome the abdominal distension and you get in a vicious cycle and the bowel can get so distended that it necrosis by the time you get to the OR. And then I've also seen this in other areas of the world where getting to a medical center that has a surgeon, really any surgeon, not even a pediatric surgeon can take days. And if it's not recognized immediately or the trip takes too long, by the time the child arrives, bringing up an ostomy becomes an emergent procedure because the child is septic with bowel obstruction and bowel necrosis. So fortunately for us that doesn't tend to be the main concern that we discuss when talking with parents, but it is good to remember that this is a disease that is often fatal if not treated early to avoid bowel obstruction. Usually when we talk to parents though, we are talking mostly about the opportunity for continence long-term. So the goal of the surgery is to get the rectum into the middle of the sphincter complex so that the child can have a chance at continence. We also wanna avoid stenosis either from a fistula that gets inflamed and keeps trying to scar down or after the surgery from a sphincter complex that tries to scar down. And so this becomes one of the difficulties of getting stenosis, constipation, and then a potential obstruction or partial obstruction when the opening is not working appropriately. Obviously for males, you don't want stool going into the urinary tract. That is a recipe for UTIs and Eurocepsis. And then in females, if the uterus and vagina are not able to drain appropriately, that can be a problem, particularly once menstruation begins. So the colostomy, this is done, like I said, mostly for male patients who have no way for the stool to get out. These patients are taken to the OR, the proximal colostomy is brought up and matured. And then the distal area, a small opening is left at that time. Any stool that is in the distal colon and rectum is irrigated out. And then we also leave the opening there, one, for any mucus to get out, but two, so we can do a colostagram prior to the definitive surgery so that we make sure we understand the anatomy. The only way to tell when there's no opening in the perineum, what type a male has is to do a colostagram and see whether it's draining into the bladder or what area of the urethra. Looking now at the PSARP, so what Dr. Pena did is he realized that if you're having trouble finding or dissecting out the rectum, you really have great exposure that you can get from the posterior side. And so using an incision that often goes all the way from the coccyx down into the perineal body, you have great exposure to get a good dissection and make sure you safely get the rectum away from the urethra or the vagina and then here it's a little hard to tell, I think the sphincter complex is in this area, but the big goal of the surgery is to identify that sphincter complex, we use a stimulator and we look for a wink in the sphincter complex both before we make an incision and then again after we make an incision. And you can see that in this next slide, they show very clearly the sphincter complex, which is here and you wanna make sure and get that rectum right in the middle of this sphincter complex so that the child will have a chance of continence down the road. As we discussed, you want to keep UTIs or stool getting into the urinary tract. So in this case, after the rectum has been identified it's actually opened so that the urethral fistula can be identified and then that urethral fistula is isolated and after you've dissected the rectum away from the urethra, that little diverticulum is over sewn and closed off so that there's no urinary leak. In this case, there was actually a bladder fistula. This is usually the bladder fistulas are fairly small. This is actually one of the largest ones I have seen. So with high urethral lesions or with bladder neck lesions will actually start laparoscopically, will identify the fistula and take it down from the abdomen and then flip the child over and do the rest of the dissection from the bottom. And so here you can see the rectum posteriorly and the bladder superiorly. You can see the ureter on the right side there. So this one was actually so large that we used a stapler to cut across it. And then you can see it, there's the staple line on the bladder and now the rectum is completely free so we can pull it through the perineum. And then finally, in rare cases, we need to make sure that the uterus and the vagina can drain appropriately. And so in this case, in a patient who had a cloaca and a very foreshortened vaginal canal, we actually create a neo-vagina with a piece of colon. So you can see this is normal colon and normal rectum that will be attached to the anal sphincter complex. This area of the sigmoid colon is cut on both ends and used to create the neo-vagina and then this area of colon is attached back to the rectum in this lower picture, which I'll blow up here. So this is the neo-vagina and this is the connection made between the colon and the rectum. In these patients, if they have a normal uterus, normal ovaries, they can still get pregnant. They oftentimes will need in vitro fertilization and then they have to have an obligatory C-section because the colon will not accommodate a vaginal delivery. All right, switching finally to the prognosis long-term for these kids. So this is one of those frustrating surgical diseases where you do a surgery upfront and then you never know exactly how you did or how the kid's gonna do until they get potty trained years later. So it's always difficult because you tell parents, well, we think we did a good surgery, we're gonna hope for the best outcome, but you're really gonna have to tell me in two or three or four years how his continence, how his bowel control is. So there are some prognostic indicators that we can use. One is the type of fistula, lower fistula lesions, which include your perineal fistulas, your rectoblastibular fistulas, and your rectobulver fistulas. Those patients tend to do better and tend to have better bowel control long-term. Patients with short channel cloacas, rectoprostatic fistulas or rectovaginal fistulas tend to do a little bit worse and bladder neck fistulas or long channel cloacas tend to be even worse than that and have a much lower chance of good bowel control. The spine, the spinal cord is also an important component. Myeloma and ingioceles, obviously separate from their ARM are gonna have worse bowel function and in combination with an ARM, they have significantly worse chance at normal continence. And then there is a sacral ratio, which I'll describe a little bit later, that also comes into account. In addition, if they have abnormalities like a hemi sacrum or sacral hemi vertebrae or a pre-sacral mass, those kids tend to do a little bit worse. So again, we come back several times to this classification schema and what the incidence is. And we see that these green types, so these are the lower fistula types, both in males on the left and females on the right, with the exception of the recto vaginal fistula, tend to do pretty well and have a good chance at continence and good bowel control. The prostatic or short channel cloacas tend to do a little bit worse and then the bladder neck or long channel cloacas tend to struggle the most. The sacral ratio, very briefly, we just take the top of the iliac crest to the lower part of the sacral iliac joint and then that same joint down to the coccyx. The, that lower distance is divided by the upper distance and you get a ratio and you want that ratio to be as high as possible. So you really want a well-developed sacrum. And if you're above 0.7, that is a positive indicator. If you're less than 0.4, that is a negative indicator. And so going back to prognosis by type and these are all slightly altered depending on the spinal issues or the sacral ratio issues. But you can see that in a lot of these lower lesions, their ability to have voluntary bowel movements is pretty good. It's above 90% long-term. Once you get into an imperforatedness without a fistula or recto urethral or rectobulver fistula or a short channel cloaca, those numbers start to drop a little bit. So 20 to 30% of those kids are having trouble with having voluntary bowel movements. But even amongst these patients that are able to have voluntary bowel movements, they are still not having perfect control. So 20 to 40, in some cases, 50 to 60% of these kids are having some swelling. And this is often at night and maybe not the biggest inconvenience in the world but certainly causes kids and families a lot of anxiety. And so this is an issue that we often have to deal with. Other patients will report occasional fecal incontinence where they can't control it. This will often happen. They get a gastroenteritis and have bowel movements that are a little more liquidy than normal. But whereas most kids are able to make it to the bathroom before they stool themselves, these kids may not be. And then it's one of those frustrating diseases where not only are they having fecal incontinence and soiling themselves, but they're also having constipation. And you're kind of pulling your hair out because you're like, well, can it be one or the other? But many of these kids will have constipation, hard stools, only stooling two or three times a week and then also having episodes where they're getting incontinent or they're soiling themselves at night. And then urinary incontinence is generally very good except obviously in the cloaca we do a little bit worse. Now in our higher lesions, obviously we do a lot worse. You know, the prostatic or rectovaginal, you know, now you're down to voluntary bowel movements only in two thirds to half. And then once you get to your bladder neck fistulas or your long channel cloacas, you know, a lot of these kids are not able to have voluntary bowel movements. Soiling is a bigger issue, constipation is an issue, and then urinary incontinence is a bigger issue as well. So one of the things that, you know, we tell patients upfront before the surgery is that, you know, we can't promise perfect bowel function. In fact, you should expect some bowel difficulties, but what we can almost guarantee is that eventually we will get the kid to be functionally incontinent. And that means, you know, they're able to go to school without stealing themselves, they're able to, you know, have a normal day without having to worry about their bowel issues, you know, causing them problems during the day in social situations, et cetera. And although, you know, some of the things that we need to do to get these patients there seem onerous and very inconvenient, we can't eventually get them there. So there are bowel management programs where, you know, kids will undergo daily x-rays for a week, trying to figure out exactly, you know, the balance of getting them cleaned out with a big bowel movement in the morning and then getting them through their day at school, sometimes in order to do that we need a laxative maybe at night before they go to bed so that in the morning they wake up and are ready to completely evacuate. Sometimes they need anti-motility agents to slow them down a little bit. We will often use enemas to get us to a place where, you know, we feel like we have good control of the bowel movements and their ability to evacuate everything. And we used to, more frequently, in cases that we were really having trouble, we would consider a Malone anti-grade countenance enema and I'll talk very briefly about that, but really the peristine irrigation system has changed that for the most part and we rarely need to do surgery on these kids anymore. Very briefly, the peristine irrigation system is an enema where, you know, the only thing they've changed over normal enemas is after you insert the tube to instill the fluid, there's a balloon that blows up so that it helps the kids hold that liquid in their colon for longer so that they can really then evacuate it well. For kids who, you know, have extreme troubles with this or kids who become, just have a lot of anxiety over anything behind their bottom, we do consider a MACE procedure where we create a valve at the cecum. We then bring the appendix up to the belly button so it gets hidden and you can't really see it and then daily or every other day they will cannulate that, irrigate the entire colon, evacuate themselves and then can kind of take the catheter out and go about their day normally. So in summary, we talked about how the type of interrectal malformation determines the treatment of prognosis. We talked a little bit about surgeries, how they prevent bowel obstruction and give our patients their best chance at continence. And then at the end, you know, about how often these patients will struggle with bowel issues and need either somebody from the GI team or somebody from the surgery team or occasionally their primary care provider to really stick with them, set realistic expectations, help them understand that there is gonna be some level of inconvenience, but make sure and support them so that they can eventually get to a spot where, you know, despite a bathroom ritual once or twice a day, they are out in the community, you know, not worrying about their bowel movements and how it might embarrass them or cause them any issues. I certainly need to thank the pediatric surgery group at University of Maryland and a couple of my mentors from Cincinnati Children's. And then I've got some references here if anybody cares to look at them later.