Colorectal Quiz: Episode 40

Hi, my name is Thomas Hsu, and I'm a pediatric colorectal fellow at Children's National Hospital in Washington, D.C. Today, we are joined by Drs. Mark Levitt, Jason Fisher, and Chris Westgarth-Taylor to discuss complex female anal rectal malformations. Let's start with the case presentation. So we had a young baby girl who was presented to Asset Nationwide Children's Hospital at five months of age. But when she was born, she was born with a single orifice, which looked like a cloacal sort of orifice, and had a colostomy done on day five of life by their local providers. And at the same time, they found that there was malrotation. So they did a LAS procedure, and they found there was a blind ending sigmoid colon. So they referred Roger as set five months of age when she was safe. Hold on one second. First of all, so she sat there for five days and did not pass any stool. Was that problematic? That I would think would be problematic, but she was obviously quite distended. She hadn't perforated it at least. You know, from where I come from, five days isn't too long to miss an anal rectal malformation. And about 60% of our patients were discharged home without being identified as anorectal malformation. So, I mean, I think it can also happen in the United States. Just a reminder, an anal rectal malformation is defined as a birth defect that occurs when a baby's anus and rectum don't develop normally during pregnancy. This can cause abnormalities in the anal opening, rectum, and occasionally with surrounding structures. This occurs more commonly in females and has a prevalence of about one in 5,000 births. Just to clarify, what did they see and what kind of colostomy did they make? They left a distal segment. How did they know it was, quote, blind ending? How did they know from the original laparoscopy? They could actually see it. You could see a blind ending piece of the codon, so almost like a colonic ecclesia sitting in the abdominal cavity. And they did a divided stoma, which is what is normally taught at what they thought was at the distal junction of the descending codon at sigmoid, which in this case would have been better just to end stoma. We've talked about this before on some of these rare circumstances. When you look in and you see an end of the colon and that's all you see, you do not have to do a divided colostomy. That can be the end. That can be your colostomy. Rather than interfering with the blood supply for the distal segment, just bring out that distal end. It's very rare that you would look in and see that. But I think if you do, I agree with you, Chris, that I would bring out the end as your stoma and not do a divided colostomy. So now we know when not to do a divided colostomy, but what would be the benefit of doing a divided colostomy in this situation? I guess the only thing I can think of is then they are protecting their ultimate rectal repair. However, you're risking the blood supply to that distal rectum. I think the smartest thing to do in this very rare case is make a true end colostomy. Okay. So when you see a blind ending piece of colon, the best thing to do is to use that as your stoma. Now let's talk about her physical exam. She has a normal looking buttocks. However, there was a single perineal orifice. Which turned out to be a wide opening urethra going into the bladder that was scoped by the urologists. And there was a good length of urethra, more than three centimeters. It looks like a normal looking introitus. It looks quite large or relatively normal in size, not the typical tiny hole single perineal orifice of a cloaca. But there is only one hole. You peer in, you do not see an anus. We're going to have to call this a cloaca because it's a single perineal orifice. And what you're telling us is that a cystoscope just goes into what looks like a urethra all the way to the bladder with nothing coming into that channel. Absolutely. What about the bladder neck? It wasn't of substance. It was a bit too open for our liking, but there's nothing to do at this stage. And you just got to use it as a urethra and see how she grows and what happens. But she didn't leak urine all the time. There is some ability to hold urine. So a very typical urethra, bladder neck, bladder system. What's odd is there is no rectal fistula and there is no vaginal fistula. And that's what makes this particularly a rare malformation. Just one other question. Were you able to see the ureteral orifices? Yes, we were. They were relatively normal. Interestingly, this patient also had a malrotation, which was an incidental finding as the colostomy was done via laparoscopic approach. This may have remained undiagnosed if it was a standard left lower quadrant colostomy. Absolutely. I mean, that's definitely the advantage of doing it laparoscopically. So let's remind everyone the laparoscopic view at the creation of the colostomy and the LADS procedure, because this is key to this case. Okay. So what they saw was a blind index sigmoid colon, no vagina, no midline uterus scene, and two normal ovaries with fallopian tubes. Wait, is this Meyer-Rotakansky-Kuster-Hauser syndrome? It is Meyer-Rotakansky-like in that there are ovaries, there are scrawny little tubes, probably remnants, and then nothing else. No midline structure at all. Very, very rare associated with a cloaca, extremely rare. There's almost always something gynecologic, Muellerian, connected to the common channel. In this case, you basically saw what one would see in a Meyer-Rotakansky situation. Can it be Meyer-Rotakansky-like with an anorectal malformation? Yes, I think that's what I'm calling it. I see. So the anatomy is similar to Meyer-Rotakansky, so much so that the planning of how to deal with the malarian systems is also similar. To add to that, I think there's a slightly different to that normal Meyer-Rotakansky with an anorectal malformation because you've got actually no rectum going to the pelvis at all. You know, you've got almost like a rectal stroke colonic atresia. What Chris is alluding to is the more common scenario is you have an anorectal malformation that looks like a recto-vestibular fistula with a completely normal urethra, but no vagina in between the two. And that I would call recto-vestibular fistula with distal vaginal atresia. But to Jason's point, the rectum ends as a fistula in the vestibule. What's particularly odd here is the rectum ends blind and quite high in the pelvis. A distal colostogram was performed, which confirmed a blind ending rectum floating in the pelvis that cannot be reachable through a posterior sagittal incision. It almost appeared to be a pouch colon. What do we think of the sacrum from these films? Very, very foreshortened, it appears. It looks foreshortened. It looks like everything below that level forgot to develop. Yeah, it's all a super duper caudal regression. So just to summarize, you have a single perineal orifice that is a urethra only, no malaria system, and a blind ending rectum high in the pelvis. And a pretty patchless urethra at that as well. Put your thinking caps on, everybody. What shall we do before Chris gives the big reveal? Just to also add, the stoma, as well as the mucous fistula, were placed near the midline, which was not an ordinary placement. This created a small conundrum for planning the repair. What we decided to do was to put a lap scope in and do a laparoscopic assisted PSOP to mobilize that distal rectum, see if we could get it down. We were not thinking about doing any vaginal replacements or anything like this because we weren't going to touch the perineal body because we were going to pretty much do a small incision because we were going to laparoscopically ail it. This was obviously a surprise. You couldn't safely dig through all those pulsating vessels with laparoscopes, right? We decided we'd rather wake the child up at this stage and get a CT angiogram, which we got to have done the next morning, which shows that you've got your aorta, which is coming right down to pretty much the base of the bladder and wrapping around the bladder. So it's demonstrating a bifurcation of the aorta quite distal to where we're accustomed to that occurring. So with the anatomy that we could see, we managed to work out that there weren't any big vessels going into the pelvis. So we thought we could safely dissect in front of the aorta. But we decided to do it open this time because we thought we might have to take the stoma down to get length anyway. So the second operation was open. You took down the two stomas and made an anastomosis, which allowed you to get the distal segment into the pelvis. Yes. We meticulously dissected down pelvis anterior to aorta and posterior to the bladder. And we did a limited PSARP in the supine position and we managed to bring the colon into the center of the muscle complex. And we did our anal pedasty there. And you chose not to divert? So that was the question, you know, we're thinking, do you divert? Do you not divert? We've done quite a limited dissection to divert. You're going to have to divert further. You might damage some of the blood supply there. So we decided not to divert. Yeah, I think it's safe. I mean, basically you have a colocolonic anastomosis at your colostomy closure site. And then all you really have is an analplasty with a couple of sutures posterior to it. I think that's a wise decision. I think if I was going to divert in this case, I'd probably do an ileostomy. So while an ileostomy would have been a preferred choice to divert, you obviously felt that not diverting would be safe as this was an anal rectal malformation and not a situation like Hirschsprung's disease, where you'd be concerned about a distal obstruction from non-relaxing sphincters, causing backup pressure into the anastomosis and blowing it out. We thought it was quite safe. And doing a limited incision, we didn't think that it would be that risky to do this. It looks like when they did their limited incision, your incision is posterior sagittal, but you did not really develop an incision within the perineal body. Absolutely. And that was on purpose that way, because we didn't want to destroy or scar the perineal body for the gynecological structures, which we might be able to incorporate when she goes through puberty. In the past, a vaginal replacement would have been done at the same time as the rectal repair in these patients. However, time and research have shown that colonic neovaginas are not great for patients 20 years down the road. And we should try very hard to avoid them. And I can tell you in most cloacas, you should be able to get the native vagina to reach. And in the circumstance where it can't, in a case like this, you would need a vaginal replacement. But there are options here. So let's discuss those. One, which I'm sure, Chris, you went over with your gynecologist, that introitus to me is potentially dilatable in the future. Absolutely. The, which can get a very, can get the, get her a very functional vagina. Two, one could open that area and lay in a buckle graft. Yeah. And I would venture to say that in 20 years or perhaps even shorter, we're going to have tissue engineering options. Oh, I think it's going to be, there are people right now taking a few vaginal cells and growing them and hopeful, just like you said, Mark, we're going to have some great tissue engineering that will assist us and make this a easier and better procedure for our patients. What are some other ideas that are in the works to potentially solve this complex anatomic issue? Yeah. So I think really in these, these days, one can completely avoid a vaginal replacement. I'll tell you another great idea that our gynecologist, Alison May, who came up with in a case of a cloaca, where you have to do all of this work, and then you have a native vagina that doesn't reach. We haven't done it yet. It's just theoretical would be to provide a neo vagina as a bridge. The patient can menstruate through that and 20 years later, then we could potentially remove it. So a few comments on that. I think it's a great idea. I think you need it when there's a problem. If there's no problem, why go in and remove tissue, whether it be bowel or whatever you have as your graft? So going back to this patient, what are the concerns or problems you foresee with a vaginal reconstruction? Let's say this was 10, 20 years ago, and we were going to do a vagina. I would not use this colon for replacement because I'm very worried about its blood supply. And if you're going to take some piece of left-sided colon to use it as a graft for a vaginal replacement, I think you're going to have major problems from a blood supply issue because of probably the original procedure that disrupted the blood supply already one time with the divided stoma. I agree. I think we should just avoid neo vaginas if we have to. My other concern for this patient is room within the introitus because right now that introitus is basically encompassed by a urethra. There would have to be a form of urethroplasty in order to make room room for whatever vaginal reconstruction, if that's so desired in the future, to fill that spot because you still need to leave the perineal body. So you either have to somehow move the urethra interior or somehow make some space for whatever vaginal reconstruction you're going to do in the future. I think there's going to be a real estate problem. Those are really valid concerns for this patient. What about the anomalous vasculature that was found on the initial laparoscopy? I applaud you, Chris, and your partners for going in thinking you're going to do this big reconstruction, encounter something that you weren't expecting and doing the safe thing. We have tools that will allow us to define the vascular anatomy. You did that, understood the vascular anatomy, and then did what you needed to do. I really commend you on that. I will say a topic that has really never been much written about is the vascular anomalies associated with an anorectal malformation. I vividly remember a case where we encountered an aberrant external iliac artery that looped up and actually was within the abdominal wall and looked very much like the obliterated umbilical artery and in fact was a blood supply to one of the extremities. So be aware that there are some odd formulations of these pelvic anatomic blood blood. So if you aren't certain about what you are seeing, you should take a step back, gather more information, and then reconfront the situation, just like Dr. Wesgarth Taylor's team did. I want to enhance that point. Fred Reichman used to say, you are judged by what you are willing to stop for. And as surgeons, you have to be willing to say, hold on, I'm not exactly sure what I'm dealing with here. I'm going to stop. I'm going to get more information. I'm going to go get some help. I'm not going to plow through. I think it was very wise to quit, get some more vascular anatomy data, and then come back and fight another day. That's excellent advice for any surgeon, whether they're still in training or have been in practice for many years. Let's finish up this case. What are some final thoughts about the procedure itself, the anatomy, and what to watch out for in the future? Following the basic principles, assessing the anatomy, deciding if you can proceed with the repair, the gynecologic planning, which I think is key in this particular case, you just needed to manage the rectum. This management of the rectum was particularly challenging because you had to take down the colostomy. But all you really did was manage the rectum safely, left the urethra as urethra, and we have to deal with the gynecologic system in the future. So really- I also think looking at this, the odds of continence for this child are concerning. Interesting. The sphincter complex, when you stimulate it, was very, very good. I mean, let's be positive. And also from a bladder standpoint that I'm worried about that standpoint as well. But again, we won't know until time tells us. You said this child is not leaking urine all the time, which is also a positive finding from a condent standpoint in the future. It's important to remember that the visualization of the bladder neck will not predict its competency and ability to hold back urine. This patient will need urodynamics in the future. Well, that was an excellent case. Any final thoughts, Dr. Levitt or Dr. Fisher? Well, that was an awesome case, Mark. Chris, this was really fun and interesting. What makes pediatric surgery great is seeing different things all the time, and it's never always the same. And so I really appreciate you sharing this case. I think I learned a lot, and hopefully our audience will learn a lot too from it. Lots to learn, even though it's so rare and the odds of everyone seeing a case like this is low, but there's so many learning points within the case that I think is appropriate for and applicable to all the different types of cases we see. Thank you all for joining us today as we discuss complex female and erectile mophomations with Drs. Mark Levitt, Jason Fisher, and Chris Rusgarth-Haley.