Colorectal Quiz 25: Perineal Groove

Hey there, listeners. It's Amanda Jensen from Riley Children's. Welcome to the colorectal quiz. Today we are going to talk about the perineal groove. We have a special guest with us, Mr. Jonathan Sutcliffe. Welcome. It's another week. I'm so excited. Mark, you know, we have a landmark episode today. We're crossing, we're crossing rivers, waters, continents. Wow. We've made it big or small, however you wanna look at it. Well, honestly, we have now finally gone global with the podcast because our first international guest and expert is joining us all the way from Leeds in the United Kingdom, mister. Jonathan Sutcliffe, and I say that very specifically because, uh, of course, Mr. Jonathan, why is it that misters are surgeons in The Great Britain, I think it's to do with the fact that barbers were the um forerunner uh of uh of surgeons, so over here anyway, doctors were doctors and the surgeons came from barbers, so. Uh, we're all named after those, those barber guys. And do you still take your, um, your very bloody cloths and wrap them around a pole outside of your office, or is that, because that's where the barbershop twirly thing comes from. Do you still do that, or is that, you know, gone? By the wayside. Yeah, it's an important part of our mandatory training, um, we, we do it Tuesdays, uh, every other week, um, but never miss, never miss that. All right, well, listen, we're really thrilled you're here. Jonathan has been a dear friend for longer than we can possibly admit. Uh, Jonathan has brought us a, a case. That we can learn a lot from, and I think the theme might be knowing when to operate is one thing, but knowing when not to operate is even more difficult. Alright, Jonathan, why don't you tell us about the case? If you're in a stay current app, go ahead and look at the picture. Yeah, so thanks for the invite. 6 day old term baby, um, on the way over to our center from an outside hospital. Uh, the pediatrician letter to the endocrinologist states, um, that they wonder if this baby's got number 1, an anorectal malformation with a very anterior anus query cloaca, and number 2, query ambiguous genitalia, um. Uh, they've done some bloods, presumably, uh, sodium, and I know they did do a phenotype, uh, sorry, a carrierty, and then they asked for an opinion. The endocrinologist and the urologist were together, they were doing a clinic, um, they asked if, um, I was around, if I could have a little look, um, and actually I, I, I saw them, um, just whilst they were waiting to see the endocrinologist, so, um. Just looking at the, the photo. If you're in the stay current app, go ahead and look at image one. It's really important to see this photo because when we talk about it, I could say I did not know of this diagnosis until I became Mark's partner and was entrenched in a Tertiary colorectal team, where you see lots of patients and have the opportunity to see a whole number of disorders, but this doesn't come into the pediatrician's or pediatric surgeon's office every day. So you really need to know what you're looking at. So Jonathan, uh, for those who can't see the photo, um, who have not gotten the app, could you just please describe what you saw? OK, so we got a female patient, she has what looks to be an unlocated anus, it looks to be in the correct position with corrugations going almost all the way round. But anteriorly there is a groove that extends from the anterior edge of the anus through to the posterior fourchette. The groove itself is pink and shiny, looks to be mucosally lined, uh, the labia looked normal, and we can't see the introdus fully. That was the finding, although to be fair, newborn baby, probably a little edema at that stage, maybe some hormonal effect, uh, but that's, that this is the, this is the baby. She was well, feeding well, stooling well, um, when you look closely, I said that there was, there were corrugations surrounding the anus apart from the anterior bit. When you look closely, actually you can see corrugations behind the, the, the pink lining at the 12 o'clock position if you look carefully. We were able to calibrate very easily to an adequate size. It was possible to make a spot diagnosis. Just because we are talking about the anus here, I want to emphasize some information from previous podcasts. So quality is needed for a normal anus is #1, an anus that's located in the sphincter complex, 2, an anus that is adequately sized, and number 3, a perineal body that is present. All right, Doctor Levitt, take it away. So what I'm hearing you say, Jonathan, is that this baby has an anal opening that you have determined by visual inspection alone is within the center of the sphincter complex, and you have checked it for size, and the additional finding that is confounding everybody, making people nervous about diagnoses like some endocrinologic disorder or cloaca, is a mucosal lined tract. Between the anterior anus and the vestibule. And you, and you have concluded with a quote spot diagnosis that that is a perineal groove. So that's setting the stage for this uh condition. Jason, you were gonna say something. Well, a couple things. One, I think describing the anus and where it's supposed to be, like we've done in previous podcasts is very important. I think we'll include on this podcast a link to, people always ask me, what size anus should A patient to have, and so we have a chart that we could include on this of a 2 month old, a 6 month old, a 2 year old, what size the anus should calibrate to uh using Hagar dilators. All right, and if you're in the stay current app, go ahead and look at image 2 for the appropriate size Haggard dilators based on the age of the patient. And really what we're talking about is a mucosal line tract. Cover over the perineal body. Right? It, it's a mucosal line track over the perineal body from what Mark was saying, going from the vestibule of the vagina to the anterior limit. Of the anus. And the first thing we're describing here is, is it, first we need to know, is the anus properly positioned. And I think that's what we just discussed, uh, and it's really important. Mark, or Jonathan, do you think, sometimes we have to do that in the operating room or use other modalities, whether it be MRI or electrical stimulation. Do you normally have to do that for these patients, or can you do this in the clinic? So position um and presence of a perineal body, I I like the way that was phrased, I think you can eyeball it, to be honest, now, um with due respect to, Uh, the authors of different papers, I've always found that it's pretty difficult to use measurements reliably, um, what is the center, where you're measuring from and to, uh, in a wriggling baby that won't be as relaxed as, as he or she might be. I, I, I think measurements can be difficult, so I think eyeballing it is, is fine. I agree 100%. I think it's the few cases a year that we see sometimes that are questionable, that might need further investigation, but typically, like you described, the color changes and really trying to get a visual inspection of where that muscle complex is located, will Give you enough confidence to make the diagnosis or, or the assessment that the anus is in proper position. Yeah, and I, I, I, I just wanna add something, I think, Jonathan, that was very sage advice, you know, we can, I think that we can get a sense of anus size and that uh table that was derived many, many years ago, which related to um how much to dilate an anus post. Post a PSA, which, um, as we're gonna talk about in an upcoming podcast is whether we should be dilating at all is now somewhat worthy of, of discussion. Um, but I think that the anus needs to be a supple without any narrowing or stenosis. And I think even if you were to pass an adequately sized hagar through a stenotic ringed anus. That might not be an anus that functions well. So, to Jonathan's point, um, size, um, is of value just to get a sense. I think you should know if it's too small. But other than that, there's obviously a very broad spectrum, and of course the anus stretches. And, and I vividly remember a case where one of our fellows examined a patient in clinic with um with quote anal stenosis, that was the query by the pediatrician. And the fellow went in and checked with Hagar's and came out and told me it was all perfect, the kid was fine. And I examined with my finger, and it was definitely stenotic. And the, it was obviously very important diagnosis because the patient had proximal dilatation and had pretty severe constipation. So, just checking with the Hagar. Sometimes gives you a false sense that the size is OK. I really wanna know about distensibility, but, um, to Jason's point, you know, this comes up a lot. Can you detect whether the anus is properly centered in the sphincter just by visual inspection alone? And I think you need to look at some cues and look at the ellipse and things, but if you're not sure, I don't see a problem with going to the OR and doing examination under anesthesia. With the electrical stimulation and being absolutely certain that the sphincter maps, and when it closes, the hole closes as well. Yeah. All right. So, so your, um, your plan for this patient was to, um, proceed with the endocrine evaluation and all the cloacal discussion, or did you alleviate the family with your instantaneous diagnosis that all was well? And, and, and how did that feel when the family got that wonderful news? OK, so, um, It was a congenital perineal groove in my mind, um, it actually, there are other scenarios that are like this where there is no objective test, um, of a diagnosis, it's just something that you, you're gonna make a call on, um, and if you've got a whole load of other people involved. You don't wanna be arrogant er and say there's no chance that you're, you're, you're gonna be wrong, but equally you don't want to be so soft that they leave with an undue sense of doubt and anxiety, um, so I tried to, I tried to, to, to address both of those things and was open, I said look, I really do think this is, um, a, a congenital perineal groove, um, and I don't think you're gonna need. Any major surgery and you probably won't need any surgery at all, I said I don't think you've got a cloaca, and I'd be very surprised if you've got two problems, um, i.e., my, my boss in Melbourne, John Hudson said you do not get a morphological abnormality in the same patient, you get an endocrinological, um, abnormality. Um, so you don't get a cloaca in association with DSD effectively. Um, so we're due. Due due respect, I'd, I'd said, um, I don't, I don't think there's an endocrine abnormality here. Um, how did the family feel? Man, they were tense, um, they said later on, uh, how hard it was for the 1st 6 days of the baby's life when presumably they got people ringing up all the time, um, saying congratulations, maybe is it a boy or a girl? Um, they don't know whether this is a cloacre, so doubtless they'll have been looking this up. Um, I, you know, I wouldn't have thought that would be on the differential, but nevertheless that must have been mentioned to them, and they were, they were pretty scared, so I think it must have been a, a relief to them, um, uh, to, to know. Um, we chatted about, um, what a congenital perineal groove, uh, is or was, and, and, and what, if any problems it's likely to cause. I don't know about you guys, uh. I don't think it's a common diagnosis, but um I think we're seeing it more often than we used to. I don't um I can't give you numbers, but it's a sense that I've got. I remember being caught out er when I was starting out as a consultant with what I thought was a um a perianal er fissure in an older child that just wasn't getting better with anything I did. Um, and, and I'm just holding my hand up. I, I didn't recognize, I didn't recognize, uh, it at that stage, and I, and I should have done, and I wish that I had done. Um, other people have been misdiagnosed as having perineal trauma or NAI, uh, uh, it isn't uncommon for non-healing fissures to be, uh, the cause, and people have described in the literature. Other diagnoses like dermatitis or, or infection, so, I think basically, if you haven't seen it before, it's, it's hard to, it's hard to spot it. Jonathan, I think you're spot on, I, and that's what I, during my fellowship and training, I had never seen this, and it wasn't until I came to Cincinnati and working with Mark that I saw my first one, and now I feel like I see less than 6 dozen a year. It's not a very common diagnosis, probably even less than that, probably. 2 you can count them on one hand, how many you see a year, um, but it's the ability just to recognize it. You said, uh, you said spot on, Jason, that's very British of you. Um, um, Jonathan, I'm curious to know, um, if you have a perineal groove in the presence of a true perineal fistula, meaning the anus is, um, not normal. It's, uh, very tiny and, um, anterior to the center of the sphincter. Um, is your management standard perineal fistula fair, or do you also excise the mucosal lined perineal body? That's a really good question, um, there's a, there's a quote from Ed Kiely, who's one of the, um, now retired senior guys, um, in GOS. Uh, which is, what is it that you think you're doing, so I apply that pretty much any time there's any sense of grayness, what is it that I think I'm trying to achieve, also on whose behalf. So for this, for the, the, the situation you describe, um, I'm thinking what I need this perineum to be able to achieve and whether or not the congenital perineal groove is likely to affect that either now or in the future. So I have had a couple of patients where they've had a congenital perineal groove and a very anterior anus that that that that needed that needed treatment. And, um, well, I'm, I'm sorry to interrupt, but we're gonna be very careful with our terminology. That I would call an anterior anus is a normal anus that happens to be anterior. A perineal, a perineal fistula is not an anus. If you're gonna give it the, if you, if you're gonna give it the name anus, in my opinion, that is a hole of adequate size surrounded by sphincter with a dentate line. So an anterior anus, again, to your point from Mr. Kylie. Does not need fixing. Right, and Jason and I, uh, one of the icons in our own training, Arthur Alsis at Mount Sinai, said, it's very hard to improve on an asymptomatic patient. Right? So again, I think that's the same message that um Ed Kiley was giving. So let's, I wanna be very specific with my question. The, the hole where stool is passing is a fistula. It is fistulous tissue. It is too small, it is not distensible, it is not surrounded by a dentate line, and it is anterior to the center of the sphincter. And in addition to that, and that we all know and deal with, in addition to that, there is a mucosal line tract reaching all the way to the vestibule. My question to you is, When you repair the perineal fistula that we have all agreed, it's the kind that needs repairing, do you leave the mucosal line tract untouched, or do you excise the 2 millimeter trough of tissue and suture up the perineal body with normal skin? Yeah, so I've taken the trough at that stage, by the way, thank you for pointing out the nomenclature thing, it is really important, um. And let me just, let me also just translate nomenclature, um, in English, um, is nomenclature. Um, by the way, Jonathan, um, there is a birth defect where the baby's bowels are, are, the baby is born and the bowels are outside of the body, but not covered in a sack. What, what is that called? How can you say anything other than gastritisis? Come on, what do you call it? Come on, what do you say? The schisis, called the schisis, the shyster. All right, so, so, because, because the point I'm getting at here is the, um, the perineal groove is, is, um, is mucosal line, and we all agree that if the anus is OK, just leave it alone. And over time, it becomes squamous epithelium and is of no consequence. And I can tell you, I maybe can think of one case where it was an older patient with a perineal groove. With a normal anus, and there's a lot of uh we weeping of mucus of mucus. And I excise the uh the tissue, although I can tell you maybe I did that once because most of the time it goes away. Let's take a step back because I think we brought up a complicated case and let's talk about a simple case first because most of the time, like you were alluding to Mark, patient comes to your office. A 2 month old, a 1 month old, abnormal findings in the perineum. We diagnose a perineal groove. I guess my two questions for the team here are, do you do any further workup once you made your, in your mind the diagnosis of perineal groove, and what is your treatment? Because that's what our families are gonna wanna know. And so, Mark and Jonathan, I ask you, when you have this family, parents, anxious, you're, they're in a surgeon's office. Are you doing any further workup and what is your treatment? So, um, there's the quote, um, that I'm aware of, which is, uh, you go to a barber, you get your haircut. So I'm aware that if you come to a colorectal surgeon, we're gonna make everything on an ARM spectrum, um, which may or may not be true. So I'd, I don't know what you guys think, but I look at this as probably being the most minor, one of the most minor parts of an ARM spectrum. The reason why I say that is that I've seen 2 or 3 that have been in association with either a perineal fistula. Um, or, uh, a recto vestibular fistula, so I've kind of thought, well, seems to happen a little bit more than random, um, and I'm assuming therefore it's part of the Vacterelle association now. I would recommend doing a um a Vacterel workup um on any patient with an anorectal malformation because. I think that there's a pragmatic thing which is if you start bringing in stratification and saying I'll do a partial one up until that level and I'll do a full one after that, I think the systems trip up on themselves, you know, the registrars or the, the fellows will get mixed up about what you're gonna do and and then down the line when you're in clinic. You, and you wanna just make sure that all the I's are dotted and the T's are crossed for your ARM patients in general. I wanna know that everything's been done and it's OK, because these are non-invasive tests, um, and if you've not done a spinal ultrasound within the period of time that each institution's radiologist will probably say something different, but if you don't have it within a reasonable period of time. And a question ever arises about tethered cord, then you can't answer it. So what I did was I explained to the family that it's very likely to come back as normal, but because we know that there is an association of different abnormalities that are, if they're there, they're already there, um, that, that it's, I, my routine is to look for them, but it's not because I've found anything that makes me particularly worried, um. They, they were happy with it, and I think most patients are. What do you guys do? You know, when I discussed this with the family, it's, it's what Mark said earlier. And, and we all, I think it's the common theme of this, this discussion. If it's not broken, Don't fix it. And so, if it looks a little funny, but it's not causing any functional problems, Then I don't really aggressively treat it, and I give um the cautious care discussion with the family, meaning that if it's secreting a lot of mucus like Mark had mentioned and causing real irritation and discomfort to the child, then maybe I would excise it, and I think I've excised one in my career so far. Oh well then I, then I've excised two. Oh, we're gonna go in. We're getting close to the time of the joke, and my joke is Olympic-based cause it is the time of the Olympics. I mean, cause I, I said I excise one, so then you said you excise one, and I said, well, that makes me look very inexperienced. So then I said I excise two. Yes, of course you might have even helped me excise the first one. So you, honestly, there have been many that I've seen, uh, I don't know, maybe not many, maybe 2025. It's not common. Um, and then I've, I've excised one, but it, they had to basically say I really can't take the mucus. But I do agree, Jonathan, that if I'm already repairing the anus, then might as well just take out that little strip. Um, but, but, you know, who knows, maybe we shouldn't be doing that because most of these will epithelialize. But I, I, I definitely agree with this, um, with the philosophy, and I think we have to make sure, uh, people understand, and what a shame that this poor baby had 6 days where the family didn't even know if there was an, a gender assignment problem. And, and just to repeat from the last or 2 podcasts ago, if the patient has no anus, It's a cloaca with a single perinealo. That's what we talked about the last time. But if a patient has a patent anus, a normal anus, and a urogenital sinus, now we're talking about endocrine problems. But this patient, I suspect with proper labial retraction. You could easily see a urethra and a vagina. That is not an endocrine problem, period. Um, and this baby had a gender assignment, uh, question in the parents' mind for six days is, is, uh, for lack of a better physical exam, that would have been, uh, that would have been corrected. Yeah. Yeah, and, and just to reiterate, I'd completely agree with you, if it ain't broken, don't fix it. You know, I wouldn't, I wouldn't advocate surgery unless you think you're gonna make something better. Um, I think, uh, and I do agree with you on the Vacty workup, although it's probably gonna be negative, but I, we all have seen perineal fistulas with tethered cord, and I recently saw a patient that did not get the complete workup and happened to have only one kidney. Uh, on evaluation at the age of 6, and that's probably something that's important to know about. Should have gotten a kidney ultrasound, etc. All right, I think we should, uh, leave it with that philosophical conclusion of Jonathan. Um, uh, and, um, very, you know, simple yet complicated case. And we all know that sometimes the most simple cases generate the most discussion. And the most nervousness from a family, um, in large part because there's a fair bit of ambiguity and a broad spectrum of what different people will do for that problem, and that brings a lot of confusion, and I hope this case that, um, Jonathan has brought to us will give some, some clarity. Yeah, I think Jonathan, this is a great case. So simple, yet can be so complex, just like you demonstrated. A simple physical exam. And an understanding of the process. And all is said and done, and you have a nice calm, relaxed family. If this is a rare diagnosis, it went down a course that was a little complicated, and it required a mister. To make the diagnosis. All right, we got a, we have a joke for this week. Do you have one? Um, I don't, I don't know if Jonathan maybe wants to import one for us. Um, You have a good joke. Yeah, uh, no, I'll, um, it doesn't have to be colorectal related, but you do get bonus points if it is. I'll tell you, I'll have a good think, and if I ever come back, I'll, I'll have a good one for you. Jason, you look like you've got one. I don't have any good ones, but this is being recorded during the Summer Olympics of 2020/2021, and so I have a couple Olympic jokes for us. The first one, what is the best part of an Olympic boxer's joke? The punch line, terrible. I mean, it only gets worse and worse every, every time. One other one. Why can't tomatoes win races against lettuce in the summer games? Uh, cause the lettuce are always ahead and the tomatoes are always trying to catch up. All right, and that wraps up episode 25 and discussion of a perineal groove. Thank you, Mr. Jonathan Sutcliffe, for joining us today. Uh, just to summarize what we talked about, so a perineal groove is Uh, rare congenital malformation is characterized by exposed wet sulcus with the non-keratinized mucous membrane that extends from the posterior vaginal forchet to the anterior ridge of the anal orifice, and the anus can be normal in this situation. Uh, in which case, The majority of the time with a congenital peritoneal root, we observe it over time and leave it alone and let it epithelialize. It will usually epithelialize by the age of 2, if there's no surgical correction. And then also in any patient with an anorectal malformation, it's very important to complete the entire veal workup and all of the associated imaging. In rare cases, if the mucosal drainage is too much for the patient, this would be a situation where you would consider excising that area. But again, very rare circumstance. Until next time, this is Amanda Jensen with Riley Children. And remember, knowledge should be free.