Colorectal Quiz Episode 28: Female ARM Management - Perineal Fistula

Published: 2022-02-28

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Inside this episode

Kai, the Library's AI content creator, listened to this episode and mapped who's speaking, the chapters, key claims, and cases. Every item links to the exact moment in the recording.

AI-enriched

Who's speaking

Amanda Jensen — host
Jason Frischer — guest
Kathleen Van Leeuwen — guest
Christine Velasco — guest
Mark Levitt — guest

Chapters

0:05Case Presentation and Introduction — Introduction of panel members and presentation of a 2-month-old female with perineal fistula, prenatal hydronephrosis, stooling 3 times daily, who had been recommended colostomy by two prior surgeons.
2:22Management Options and Decision Framework — Discussion of five management options (colostomy then repair, primary repair, dilation then repair, colostomy with simultaneous repair, dilation only) and the clinical reasoning for each approach, emphasizing that diversion is not required when the patient is passing stool.
6:38Classification of Female Anorectal Malformations — Detailed review of six anatomic variants from vestibular fistula to normal anus, using visual diagrams to distinguish which require surgery, which need anterior wall dissection versus cutback, and which may be managed with dilation alone.
11:16Multidisciplinary Evaluation: Cystoscopy and Vaginoscopy — Rationale and technique for cystoscopy and vaginoscopy in anorectal malformations, including screening for vaginal septum, distal vaginal atresia, ectopic ureter, and cervical duplication. Case findings included a gaping ectopic right ureter and normal single cervix.
15:03Associated Anomalies and Prognostic Factors — Discussion of the association between neurologic anomalies and gynecologic anomalies, the importance of renal differential function assessment (DMSA), and the impact of tethered cord on prognosis for bowel control despite a favorable malformation type.
18:46Summary and Preview — Recap of key teaching points regarding normal anus criteria, physical exam findings in female anorectal malformations, and the role of exam under anesthesia with cystoscopy/vaginoscopy. Preview of part two covering postoperative management.

Key claims

3:02A normal anus must be of appropriate size, in the center of the sphincter, and have a perineal body. — Amanda Jensen
3:12If the hole is in the center of the sphincter with adequate lumen and a perineal body, the patient does not need to be touched. — Mark Levitt
3:24If the hole is too small or outside of the sphincter, the patient needs surgery. — Mark Levitt
4:20There are five management options for perineal fistula: colostomy then repair, primary repair, dilation then repair, colostomy with simultaneous repair, and dilation only. — Mark Levitt
5:23Diverting with a colostomy does not necessarily prevent wound complications and carries morbidity from both the colostomy and its closure. — Mark Levitt
5:54Diversion of stool is not the reason for colostomy unless the fistula is very tiny and the patient cannot pass stool, which can be managed by dilation. — Mark Levitt
6:07Dilation alone could be problematic if the distal end is fistulous and will not grow, causing proximal distension. — Mark Levitt
9:14A vestibular fistula is not a vaginal fistula because the posterior vaginal wall is intact with no fistula to it. — Mark Levitt
9:34True vaginal fistulas are exceedingly rare. — Mark Levitt
10:52Some perineal fistulas can be managed with posterior wall mobilization without touching the anterior wall. — Mark Levitt
7:38Anal stenosis with a tiny hole in the middle of the sphincteric ellipse requires screening for Currarino syndrome. — Mark Levitt
12:12Many children with anorectal malformations have genitourinary anomalies, which is well documented in the literature. — Kathleen Van Leeuwen
12:48Seeing a single cervix on vaginoscopy does not mean there is actually only one; a second cervix may be found later if there is a narrow side. — Kathleen Van Leeuwen
14:28The incidence of vaginal atresia is quite rare, and vaginal septums are more common at around 3 to 5% of vestibular fistulas. — Mark Levitt
14:36Perineal fistulas can also be associated with distal vaginal atresia. — Mark Levitt
15:22When neurologic anomalies are found, there is increased likelihood of gynecological anomalies, especially on the same side. — Jason Frischer
16:36Differential renal function is relevant when considering whether to reimplant an ectopic ureter or remove a non-functional kidney. — Mark Levitt
17:20Absent kidneys are usually not truly absent but rather non-functional, often multicystic and dysplastic. — Mark Levitt
17:44Every surgeon caring for an anorectal malformation should know the malformation type, spine status (tethered cord or myelomeningocele, or normal), and sacral status including sacral ratio. — Mark Levitt
18:15A patient with a low-type malformation but associated spinal problem has a different prognosis for bowel control than a perineal fistula patient with a normal spine. — Mark Levitt

Cases discussed

1:232-month-old female with perineal fistula at fourchette, prenatal and postnatal right hydronephrosis, stooling 3 times daily through small hole at posterior fourchette of vagina

Open questions

What is the optimal timing for primary repair of perineal fistula when the patient is stooling adequately—immediate versus delayed to allow growth?
In a patient with ectopic ureter and low differential function, what threshold of renal function justifies reimplantation versus nephrectomy?
How does the presence of tethered cord quantitatively affect the prognosis for bowel control in low-type anorectal malformations?

This episode was analyzed and enriched by Kai, the Library's AI content creator. Every item links to the moment it comes from — click a timestamp to listen in context.

Perineal Fistula With Ectopic Ureter and Tethered Cord: Coordinated Surgical Planning

The patient case from this episode, retold from presentation to outcome with the decisions made along the way. Written by Kai from the episode transcript and reviewed before publishing.

For specialists · Case narrative · AI-written, human-reviewed

Presentation

A two-month-old female presented for third opinion regarding management of a perineal fistula, initially identified after prenatal diagnosis of right hydronephrosis 3:02. At presentation, she was stooling three times daily through a small opening at the posterior fourchette without difficulty. Two prior surgeons had recommended colostomy; the family sought additional guidance.

The Decision Point

The central question was whether this infant required colostomy before definitive repair, primary repair without diversion, or potentially no surgical intervention at all. The answer hinged on three anatomic criteria: whether the opening was appropriately sized, whether it sat within the center of the sphincter complex, and whether an adequate perineal body existed 3:02.

Five management pathways were considered: colostomy followed by delayed repair, primary repair without diversion, serial dilation followed by repair, colostomy with simultaneous repair, and dilation alone 4:20. The team rejected colostomy, reasoning that diversion does not reliably prevent wound complications and carries its own morbidity from both the initial procedure and subsequent closure 5:23. The infant was passing stool without obstruction, eliminating the primary indication for diversion 5:54. Dilation alone carried risk if the distal fistulous tract would not expand, potentially causing proximal distension 6:07.

The team recommended primary repair at four months without colostomy, coordinating the procedure with urologic and gynecologic evaluation under the same anesthetic.

What Was Done

At four months, the infant underwent examination under anesthesia with cystoscopy and vaginoscopy, alongside MRI screening for tethered cord. Cystoscopy revealed a gaping ectopic right ureter at the bladder neck with a normal left ureter. Vaginoscopy demonstrated a single normal cervix and normal vagina without septum or distal atresia 14:28. The vaginal examination was performed because children with anorectal malformations frequently harbor genitourinary anomalies 12:12, and a single visible cervix does not exclude duplication that may be identified later 12:48. MRI confirmed tethered cord. Urology planned ureteral reimplantation; the differential function between the two kidneys would determine whether to reimplant the ectopic ureter or remove a non-functional kidney 16:36.

Outcome

The discussants did not describe the results of the definitive colorectal repair or the ureteral reimplantation. The case presentation ended with the diagnostic findings and surgical plan.

What the Case Changes

This case illustrates that perineal fistula management decisions rest on precise anatomic assessment rather than reflex application of colostomy. Some perineal fistulas can be addressed through posterior wall mobilization without anterior dissection 10:52. The presence of a low anorectal malformation does not predict a benign course when associated anomalies exist — this infant's tethered cord fundamentally alters her prognosis for bowel control compared to a perineal fistula patient with normal spine 18:15.

Every surgeon managing an anorectal malformation must document three elements: the malformation type, the spine status (tethered cord, myelomeningocele, or normal), and the sacral status including sacral ratio 17:44. These define prognosis and guide family counseling. Coordinated evaluation under a single anesthetic — addressing colorectal anatomy, urologic anomalies, gynecologic structures, and spinal imaging — minimizes procedural burden while ensuring complete assessment. The scavenger hunt for associated anomalies is not optional; when neurologic anomalies are identified, the likelihood of gynecologic anomalies increases, particularly ipsilaterally 15:22.

Takeaways from this story

Colostomy does not reliably prevent wound complications in perineal fistula repair and adds morbidity from creation and closure.
Perineal fistulas meeting three criteria—appropriate size, centered in sphincter, adequate perineal body—require no surgery.
Tethered cord changes prognosis for bowel control in low anorectal malformations; spine and sacral status must be documented.
Single cervix on vaginoscopy does not exclude duplication; a second cervix may appear later if a narrow side exists.

Topic overview

A multidisciplinary discussion of a 2-month-old female with an anorectal malformation (perineal fistula at the fourchette) and associated hydronephrosis. The panel reviews the diagnostic criteria for normal anus anatomy, classification of female anorectal malformations from vestibular to perineal fistulas, and management options ranging from colostomy to primary repair. The case illustrates the importance of coordinated evaluation for associated genitourinary and spinal anomalies, with cystoscopy revealing an ectopic ureter and MRI identifying a tethered cord. The discussion emphasizes that prognosis for bowel control depends not only on malformation type but also on spinal status.

Key takeaways

Normal anus requires appropriate size, central sphincter position, and perineal body; otherwise surgery is needed. (3:02)
Colostomy for perineal fistula doesn't prevent wound complications and adds morbidity from creation and closure. (5:23)
Prognosis for bowel control depends on both malformation type AND spinal status, not malformation alone. (17:44)
Neurologic anomalies increase likelihood of ipsilateral gynecological anomalies in ARM patients. (15:22)
Vestibular fistulas are distinct from vaginal fistulas; true vaginal fistulas are exceedingly rare. (9:14)

Keywords

anorectal malformation perineal fistula vestibular fistula hydronephrosis ectopic ureter tethered cord vaginal septum distal vaginal atresia anal stenosis Currarino syndrome myelomeningocele hemisacrum multicystic dysplastic kidney cervical duplication colostomy

Hashtags

#PediatricSurgery #ColorectalSurgery #AnorectalMalformation #PediatricUrology

Transcript

Click "Show Transcript" to view the full text (17522 characters)

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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