Hey there listeners, it's Amanda Jensen from Riley Children's. Welcome back to the Colorectal quiz. Today we have a special episode for you. We are going to be talking about female anorectal malformation management, and today we have two very special guests with us. I will have Doctor Fisher introduce them. Doctor Fisher, take it away. We have a couple of guests. I'll introduce one. That was Doctor Jason Frischer from Cincinnati Children's. But we are lucky that Kathleen Van Leeuwen has decided to join us today. Kathleen is the director of the Colorectal Center and Differences of Sexual Development at Phoenix Children's Hospital and has been a good friend to Mark and I for many, many years. I've known Kathleen since you were the, I think, Michigan pediatric Surgery fellow, maybe even before that when you're at Columbia. Um, so, a long, long time, or maybe just a couple of years. But it's been a great pleasure and, and watching your career develop and, and I like to follow in your footsteps some. So, uh, it's awesome to have you here, but tell us who you brought along with you. Uh, Christine Velasco, and Christine, Doctor Christine Velasco was able to do a colorectal year in Cincinnati. Case is a 2 month old female who presented to our clinic after having been seen by 2 different physicians in the area and was coming for a third opinion for her anal rectal malformation. She initially prenatally was diagnosed with hydronephrosis of the right kidney. And this was uh postnatally found to be present as well. And then she was also noted to have a perineal fistula. So, having seen the two other surgeons, uh, had been stooling on her own about 3 times a day, and they had actually recommended colostomy prior to proceeding with any type of repair. And she came to see us for yet another opinion. First of all, you have a Um, a full-term baby with, um, an anorectal malformation described as a perineal fistula. That was Doctor Mark Levitt from Children's National in DC. And I can tell you, the conversations that go around a female, the perineal fistula are more time-consuming than the conversations that need to happen about a cloaca. And the number of opinions that people seek for this relatively benign type of malformation are clearly quite incredible, and it's amazing to me that there still remains a lot of uh mystery about what to do and whether this is an anorectal malformation at all. So let's just quickly go over this. What makes a normal anus? Number 1, it must be of appropriate size. 2, it must be in the center of the sphincter. And 3, You must have a perineal body. And if the hole is in the center of the sphincter or it's in somewhat of the sphincter, and if the hole is enough of a lumen, and if there's a perineal body, that patient does not need to be touched. And if the hole is too small, then they need surgery. And if the hole is outside of the sphincter, then of course, they need surgery. And the bonus is then you gain an adequate perineal body. You guys suggested a primary repair, so you were against the idea of doing a colostomy, which I, Agree with, um, but there were other options, were there not? Definitely. This baby's been stooling through this, uh, small hole that's at the, at, it's at the posterior foreshadow of the vagina. So it is, it is not a big hole. It is clear to me on the first exam that she's gonna need that hole moved, or at least do an examiner anesthesia. And figure out where the sphincter muscles are and probably move and create the anus and create the perineal body. I told her and that that we would want to do the examiner anesthesia and decide whether or not to move the anus, but then I thought since she was stooling through that hole, that she didn't need the colostomy. As, as I can see it, there are 4 options for this patient. Uh, colostomy, as we discussed, to start out, and then repair. Then primary repair. Dilations. And then primary repair. And then So ostomy with repair at the same like ostomy, OK, it's great. So I then there are 51 option is then there are 5 and the 5th 1, the 5th 1 would be dilations only and let them grow up like that, and I can tell you there, there's a validity to all of these, uh, there's a validity to all of these options. So I think we should talk through. Talk through them. So, um, just to review, those are, those are great. Primary repair, I think, you know, you need to feel comfortable with, uh, operating on a small baby. The, the concern about a primary repair, of course, is the distance of the perineal body, most concerningly. Although I will tell you that diverting with a colostomy doesn't necessarily stop that from happening and You have the morbidity of a colostomy and of the colostomy closure, which is nothing to sneeze at. That is a, those are some serious morbidities sometimes. So if you can be avoided, should be avoided. Um, dilation with a delayed repair is a similar theme to a primary repair. Um, I don't see a huge advantage to getting the baby bigger, but we also need to recognize, as Kathy mentioned, this is not an emergency. They are passing stool, so the diversion of stool is not the reason for the colostomy, unless it's a very, very tiny fistula, and they can't pass stool, but that can be managed by, by dilation. And dilation alone, is potentially OK, but could be problematic if it's a fistulous distal end, which won't grow, and the patient will get very distended proximally. So, those are all the things that you're thinking about. And the other thing, just to make it complicated, is we need to know exactly what we're dealing with. Cause everyone's definition of a perineal fistula and where that fistula is may differ. And if you're listening on a stay current app, this is image one. What you see is an artistic diagram of a female perineum. So this is with a normal urethra and a normal vagina. You're obligated to do an exam to confirm this, and then additionally, there's a hole, and that hole may or may not be normal. So, going from left to right, the yellow dot is first in a vestibular fistula. The next dot is at the forchette, so just where the vestibule ends and the squamous epithelium of the perineal body starts. The next one, the 3rd 1, the dot is clearly a perineal fistula, but intentionally placed. Anterior to a sphincter mechanism, not in the sphincter. The 4th 1 is a very small hole, so a perineal fistula, but at the anteriormost portion of the sphincteric ellipse. The 5th 1 is a very tiny hole in the middle of the sphincteric ellipse, and that one I would call anal stenosis rather than a perineal fistula, and recognize that that's possible and you need to screen for curino. And the final one is a normal, meaning there's a hole, it's in the center of the sphincter, and it's the right size. So these 6 images really become vital in the discussion of which patients need surgery and which of those actually require the anterior wall dissection versus can you get away with just a posterior wall. Dissection, also known as a cutback. But there are some of these perineal fistulas where you do not need to do an anterior wall dissection. Transposition, not required. It's pretty good. It just needs to be made larger. So let's go through that. So the first one is a vestibular fistula. Everyone agrees that patient will need surgery. What technique you use as a topic. Of controversy, further discussion, anterior approach, posterior approach, honestly, I don't care. As long as the patient ends up with a healed perineal body, and anal opening that's in the center of the sphincter, that is of adequate size. Can I ask a question, please, to the panel? Is that the same thing as a vaginal fistula? Cause I often get notes and read and at meetings, and they say vaginal fistula, and you didn't mention vaginal fistula, so. Yeah, so that's, that's a, that is the question, and I, I think actually that description, I'm, I have seen much less over the years, um, but it, uh, this is not, none of these, this vestibular fistula is not a vaginal fistula because the vaginal wall, the posterior vaginal wall is intact. There's no fistula to it. You can have a vaginal fistula, but it's exceedingly rare. So we, I didn't mention that one. Um, but obviously, you'd look in, you'd see a urethra and a vagina, you'd see nothing else. And obviously, there's no anus. So, where's the hole? Well, the hole's on the back of the vagina, but none of these show that because all of these show stool emanating from a perineal position. Vestibular, we agree, needs surgery. The second one is a Fourchet fistula. I think we all agree. Needs surgery. That hole is not the right size. It's not in the center of the sphincter, and there's no perineal. Christine, this is, that's the location of the case you're describing today, correct? Just so that our audience is aware, that's the location of our, for our case today. Number 2, correct. Number 2. So 44chet. So, so just to confirm, there's no perineal body. There, the hole is too small, and it's not anywhere within the sphincter. Number 3 is similar, but a little bit further back than the ochet. Also, needs surgery, hole is too small, perineal body is inadequate, and no sphincter is surrounding that hole. Number 4 is really interesting. Number 4 is a lot of them are number 4, and these are the ones that I was sort of referring to that could be dealt with, with a posterior wall mobilization without touching the anterior wall at all. Number 5, could be dilation only or a little bit of a plasty, but definitely needs screening for Corino, and number 6 is normal. So we're gonna be talking about a Forchet fistula. And you guys have decided to offer the patient no colostomy, and the baby's already coming to you at 2 months, and you're recommending a repair without a colostomy. Correct. We recommended that the uh surgery and to book it as an elective basis as the baby was stooling without difficulty. We didn't recommend any dilations either. The baby was now 4 months of age. She had this prenatal history and postnatal history of hydronephrosis. We booked the initial surgery to be done in conjunction with our urology colleagues for a cystoscopy. And vaginoscopy, as well as the MRI to check for tethered cord at the same time. Why did you do a vaginoscopy? Tell us, tell us actually how you do the vaginoscopy and why. Many kids with anorectal malformations also have genitourinary anomalies, and that's well documented in the literature, but also we're just assuming that if you already have an ectopic ureter and you have a vestibular fistula. There's more to be found here and we do try to let the family know that and that's, I think, Christine, when we do the scopes, will you, uh, so we, as, uh, Doctor Van Leeuwen said, we proceed with the cystoscopy with vaginoscopy, uh, using the cystoscope, uh, when you're looking. You're looking for a single cervix, and uh just because see a single cervix does not mean there is actually only one, and, and Mark will tell, Mark will, I'm sure attest to that is that when I see one, that doesn't mean there's not two, we're gonna find another one another time if there's a narrow side. Um, obviously you're counting the kidneys on this kid too, so if they have 2 kidneys, you're looking for, um, a single cervix versus a duplicated system. And um the other thing is to measure. I mean, it's, I, I don't think I worry too much about the length of the vagina on most of these kids, but Um, you're just expecting, uh, kind of like a certain length that comes from the DSG side of me is to make sure that we don't, we're not noticing any surprises for later. Um, this kid, I wasn't worried about the reproductive anatomy, but we, uh, we found the ectopic ureter, just this gaping ureter that had no, it was, this child was not gonna end up being, um, some, it wasn't gonna be something that could avoid surgery, and we found that at the time of the anaplasty. So coming out to tell them about how successful the surgery was for the oplasty also involved telling them. We just found for sure that we're gonna need to do a reimplantation of the ureter and uh they headed off to MRI where we found the tethered cord. So just to um just to review, um, it is our routine as well. Uh, vestibular fistula, we would definitely look into the introitis. If you have the ability to do cystoscopy, great. If not, you need to hold up the labia and look very carefully. You're looking for a lumen to make sure there's not And a distal vaginal atresia, and you wanna make sure there's not a vaginal septum. Incidence of vaginal atresia is quite rare, and vaginal septums are a little bit more common, somewhere around 3 to 5% of vestibulars. Now this is really a Forchette fistula, so a little bit more of a perineal, a little bit less common, but I can assure you, I've, Seeing perineal fistulas with distal vaginal atresia as well. You're obligated to look, and if you're blessed by having GYN collaboration, have them join you to take a look, and on occasion, you'll find something, and then you may need to deal with the vaginal septum or make a plan for um the vagina. If you find distal vaginal atresia, Is that a vaginal replacement? Is that a vaginal pull-through, or is it dilation alone? All right, Doctor Van Leeuwen, what did you find? What we found was that she had a single cervix and a normal vagina. And so that was one piece of good news for this family postoperatively. The other thing to note just when you're on a scavenger hunt for anomalies, when you do find neurologic anomalies. That leads to more likely gynecological anomalies as well, especially on the same side. And we can just note that we do have images from the cystoscopy that. If you're listening in the stay current app, please refer to image number 2. The left is on the leftmost side of the slide. You can see her cervix, which is normal, and then the dilated right ectopic ureter at the right bladder neck, and then the rightmost picture is the normal left ureter. Yeah, and again, it, uh, I really like how you played this out with uh having urology join for the cystoscopy before the uh anoplasty work and gynecology to check out the, uh, gynecologic anatomy at the same time. We try very hard, as I know you guys do, um, in Cincinnati and in Phoenix to, uh, coordinate these, um, activities for the patient. Obviously, you knew about there, there was a ureterral problem prenatally. Um, and obviously, the patient, um, you know, probably got a VCUG and a, um, and then the cystoscopy. The one thing to keep in mind, back to Kathy's comment about Mullerian anomalies, uh, differential function between the two kidneys is quite potentially relevant. So, um, one thing to keep in mind for those with the uro with the urology, uh, uh, passion out there on the podcast. This is a patient I probably would have gotten a DMSA on and figured out differential function because that's a ureter that you might reimplant if there's a moiety that's valuable, but it's also a ureter that might be attached to a kidney that you might actually want to remove, um, if, if it's a 99% uh left side and a 1% right side scenario. So just be aware of the fact that absent kidney, quote unquote. And it's usually not absent, it's more non-functional and it's often multicystic and dysplastic, not absent, is obviously a very important association and always knowing what is the urologic status, what is the gynecologic status, and what is the actual colorectal definition is vitally important. And then the other thing that you guys have nicely thrown in here is, um, is, is you mentioned the status of the spine. Um, and, um, my feeling is that every surgeon takes care of an interectal malformation, ought to know the type of malformation, the status of the spine, i.e., tethered cord or myelomeningocele, or in most cases, luckily normal, and the status of the sacrum and our routine is always to look at the sacrum for a hemisacrum. And then make sure we calculate the sacral ratio, which we find very valuable, at least in informing our conversation with the family about potential for bowel control because this is an interesting patient with a very low type of malformation, however, with an associated spinal problem, and therefore their prognosis is not the same as a perineal fistula patient with a normal spine, and you can't have the same. All right guys, and we're out of time. This wraps up our colorectal quiz for today. Today we discussed the female anorectal malformation and specific management of a perineal fistula. This is going to be part one of a two-part series. Today we talked about what it means to have a normal anus in regards to is it an appropriate size? Is it in The center of the sphincter and is there a perineal body. And then in regards to female anorectal malformations, really looking on physical exam, do they have a normal urethra, a normal vagina? And then in regards to the hole, where is it in relation to all of the other anatomy? And This hole, you know, may or may not be normal, but we're obligated to exam and figure out what is the best approach surgically. And lastly, in the operating room during our exam under anesthesia, using cystoscopy and vaginoscopy to really figure out the gynecological and urological anatomy. Next week, we will dive into the post-operative management. Until next time, I'm Amanda Jensen at Riley Children's. Thank you for joining us for the Colorectal podcast. Remember, knowledge should be free.
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