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Anorectal Malformation and Assessment

Rebecca Rentea, MD, MS, MBA, discusses an overview of anorectal malformations, and how providers can appropriately assess in the primary care setting.


Anorectal Malformation and Assessment
Featured Speaker:
Rebecca Rentea, MD, MS, MBA

Rebecca M. Rentea, MD, MS, MBA is an associate professor of surgery, chief of the section of colorectal and pelvic reconstructive surgery, the director of the multidisciplinary Comprehensive Colorectal Center, and the pediatric surgery fellowship program director at Children's Mercy Hospital in Kansas City, Missouri. She completed her undergraduate studies at the University of Wisconsin-Madison, a general surgery residency at the Medical College of Wisconsin in Milwaukee, Wisconsin. She performed her pediatric surgery fellowship at Children's Mercy Hospital in Kansas City, Missouri, followed by a pediatric colorectal and pelvic reconstruction surgery fellowship at Nationwide Children's Hospital at the Ohio State University- Columbus, Ohio. She has a clinical and translational research background and a master's in health outcomes research from Northwestern University in Chicago, and an MBA from the University of Wisconsin. Her focus is on pediatric colorectal and pelvic reconstruction pediatric surgery, clinical outcomes research, and surgical education with minimally invasive surgical approaches.

Transcription:
Anorectal Malformation and Assessment

 Dr. Rob Steele (Host): Welcome to Pediatrics in Practice, a CME podcast. I'm your host, Dr. Rob Steele, Executive Vice President and Chief Strategy and Innovation Officer at Children's Mercy Kansas City. Before we introduce our guest, I want to remind you to claim your CME credits after listening to today's episode. You can do so by visiting cmkc.link/cmepodcast and then click the claim CME button.


Today, we are joined by Dr. Rebecca Rentea to discuss anorectal malformation and appropriate assessments. Dr. Rentea is an Associate Professor of Surgery, Chief of the Section of Colorectal and Pelvic Reconstructive Surgery, the Director of Multidisciplinary Comprehensive Colorectal Center and the Pediatric Surgery Fellowship Program at Children's Mercy Kansas City. Holy bananas! She doesn't sleep. She completed her undergraduate studies at the University of Wisconsin Madison, and a General Surgery residency at the Medical College of Wisconsin in Milwaukee, Wisconsin. She performed her Pediatric Surgery fellowship at Children's Mercy, followed by a Pediatric Colorectal and Pelvic Reconstruction Surgery Fellowship at Nationwide Children's at the Ohio State University in Columbus, Ohio, or we say THE Ohio State University. She has a clinical and translational research background and a Master's in Health Outcomes Research from Northwestern University in Chicago and an MBA from the University of Wisconsin. Her focus is on pediatric colorectal and pelvic reconstruction, pediatric surgery, clinical outcomes research, and surgical education with minimally invasive surgical approaches. Dr. Rentea, thank you for joining us today.


Dr. Rebecca Rentea: Thanks so much for having me on the podcast, Dr. Steele.


Host: Holy bananas! With that introduction, I'm tired just from introducing you. I mean, I can't imagine living your life. That is a very impressive resume. I have to ask, because of your specialty, and I know you're one of very few in the country for pediatric anorectal malformation experts, you get invited to a lot of places to speak and whatnot. Is that true?


Dr. Rebecca Rentea: it is. You know, this institution, Children's Mercy in Kansas City has been one of the most supportive institutions. And the excitement to have and build and maintain a multidisciplinary center was rooted in my early fellowship here at Children's Mercy. And that has allowed me to have a lot of specialty training. And it's really a lifestyle, meaning that the more that I learn and the more that I get to interact with patients and their families, the more that I am in this specialty. And I have had the opportunity to travel around the United States as well as internationally, because the specialty is really emerging and there's more and more of an understanding the children that get diagnosed with something that you get diagnosed with in the first couple months of life actually need multidisciplinary and long-term care. And so, that's kind of the crux of what I get to do and how I fit into Children's.


Host: Yeah, that's awesome. Well, we'll get back to travel maybe later in the podcast. We'll pull on that string just a little bit, but that's a really great segue. Could you go ahead for our listeners, many of whom are primary care pediatricians and whatnot, define anorectal malformations and explain maybe just the common types?


Dr. Rebecca Rentea: Yeah. So, there's really been an evolution. When we think about anorectal malformation, we often see in a textbook, 50 to 60 small little illustrations that have things kind of connecting to different places. But in the, I say outside world, in the non-ICU setting where a child comes in to a pediatrician's office or the family is noticing that something "isn't quite right" with their newborn child or their toddler that's kind of working on transitioning to toileting and getting out of diapers.


The things that we notice that define an anorectal malformation are an abnormality or issue with the size of the opening that allows the evacuation of stool, so an opening that is too small. The other thing that is noticeable is that there is an abnormal placement between where you visually expect the anal opening to be to let stool out. So, you might see really kind of like a discolored skin area, but then the actual opening is substantially different from where you'd expect it to be. And then, the third thing is that there's maybe stool coming out of a place where you would not expect it to be. So for example, in a female, it would look like the stool is emptying more toward the labial area. And sometimes there can be kind of a normal opening and additional stool. But, to repeat again, it's an abnormality with a size of opening, an abnormality with the location of the opening compared to where you'd expect it to be, and potentially that the anal opening is connecting to another structure.


Host: Great. Great overview. You know, with that definition and variability that you've now described, I imagine the presentation of these can have a pretty significant variation as well. But maybe for the listener, you could give us a sense of what is the typical presentation? What do you typically see?


Dr. Rebecca Rentea: I'm again going to kind of break this up into two groups. When we see children that have transferred from another hospital to our neonatal intensive care unit, what we typically see is no anal opening. So, this is usually diagnosed on day one or two of life. This is a complete surprise to the family and the care team. This is not something that you would diagnose in utero because an infant does not need to stool in utero. And so, there is not any real findings. And so, this is a surprise diagnosis and that really is the version of what we see when we're in still a NICU or acute hospital setting.


Host: Right. That's not too subtle. I imagine that one doesn't get missed.


Dr. Rebecca Rentea: Correct. It can be a surprise, so it can look, you know, externally like everything's okay, and then eventually it's like, "Wait, why is this infant distended? Why are they vomiting?" You begin to look down below, and it's like, "Okay, something is wrong." So, that one is more commonly, when there's literally no opening, that's definitely something that we see, and that is eventually the infant really does alert us that there's something very wrong or different.


In the outpatient setting, what we notice the most is that their infants may be straining with stool, and then it prompts the family to start looking down below of what's going on. Or when the infant goes from being breastfed or having some of those early feeds and then transitioning either to formula, which really thickens up your stool, or when they're going suddenly to table food. Because one of the most important things here is that an abnormal opening in any of those issues I just described does not actually grow or change with the infant's size as they get to a toddler. And so, it becomes more and more pronounced that there's worsening constipation, more straining with stool. And that's often how we then get a question from a provider to our group.


Host: Is it reasonable to assume that most of those presentations are going to happen in that infancy and maybe even early toddler period? Or do you have a fair number of patients that are actually presenting at a much older age?


Dr. Rebecca Rentea: So, fairly spread out. I would say a very aware family and a very in tune pediatrician together will usually pick these up within the first two, three months of life that there's a variation in what is expected, but there are children that have kind of this borderline presentation where there is an opening, maybe they were doing great on breastfeeds and then, you know, there's been a lot of reassurance provided, and then suddenly things are really, really different, even though the parents might've alerted that something was not quite right, right kind of at the eight, nine-month mark. And that can really be a surprise for everybody, because of the amount of constipation and how acutely suddenly not having an appropriate-sized anal opening becomes.


Host: Yeah, great. For the general pediatrician who very, very commonly speaking from experience as a general pediatrician gets the, "My child isn't pooping well," you know, what are the key findings perhaps on examination or maybe even key questions if you've got any pearls of wisdom? How do you tease out what is the typical constipation that we might see in many children that really have nothing to do with a malformation versus one in which we should increase our index of suspicion?


Dr. Rebecca Rentea: Yep. So, I would say asking the family how the child is stooling, what kind of feeds they're on. Again, a breast milk-fed new infant may not stool every day, but they're also not uncomfortable. They're hungry, they're eating, they're stooling well otherwise. I would say a good physical exam. My mom, who's also a family doctor, she always says all the clothes come off, so I don't think that that's something new. But, you know, all the diapers are off, everything is off, and a good exam down below will reveal is there an anal opening? When the butt cheeks are spread a little bit, does it look like the size is appropriate? And then, any of these other things that I noted, if there's like this little punched out pink opening and the infant is kind of straining in your face trying to stool actively while they're examined, that's probably an index that there's something not quite right.


But a normally defined opening, it looks like it's sitting in the sphincter complex, meaning like in that discolored, kind of light, darker skinned area where you'd expect an opening to be. I would then ask if the family is having to do any maneuvers. You may often find that families are having to put suppositories up there. You know, are they even able to do that? Or is the opening too small? Are they using temperature probes? So, I would say that that begins to sort out the difference of, "Hey, this is actually a common problem of just constipation, and that goes down a little bit of a different workup pathway," rather than is it an actual abnormality with the anorectal opening where you get poop out of.


Host: Yeah, great. Yeah, well explained. That's fantastic. So, you know, I imagine you probably have patients that come in with the concern that there actually may be malformation and, in the end, doesn't appear that that's the case, that it ends up being constipation. What's sort of your go to regimen with regard to constipation as you're transitioning them back to their physicians and whatnot? What pearls of wisdom can you give us there?


Dr. Rebecca Rentea: Yeah. I would say first of all, the over-counter medicines are safe for children. I think that there's a lot of information out there, a lot of discussion between Facebook groups and what families have gone through and a lot of overlays of very complex children who then their families relay their experience. So, I would just first say that those medications are safe. And, if you give too many of those, you will have very liquid stool. So often, it's better to help a family with a child that cannot get stool out than it is to "do nothing." So, I recommend the liquid senna medication, and I do that as weight-based per kilogram. So, again, for an infant, that makes more sense. But kind of in that betweener stage of a child that's maybe two, three, four, I often find that attempts to get stool out are a little bit underdosed because, again, we're a little bit unfamiliar of actually putting a medication there for a child to stool, even though we really want them to get stool out.


So, Miralax mushes your poop so that makes it soft. It does not get poop out of your body. But senna, Ex-Lax sends the stool out by squeezing the colon. So between those two medicines, I feel that the majority of infants that have an opening that's big enough that looks like it's surrounded by muscle, meaning it's in that complex area where you expect the opening to be. And we don't think that there's any other big maneuvers that the family has to do to get poop out of their infant's body are easily treated with those two medications.


Host: At which point do you begin to recommend perhaps enemas or, you know, more physical evacuation? Do you feel that the oral medications as you described over-the-counter take care of the overwhelming majority? Or at what point do you recommend that maybe starting the regimen with something more physical?


Dr. Rebecca Rentea: So, there's a clinic that we have at Children's for children that do not have any types of malformations called the BRICK Clinic, so, they've not had a surgery, and that is staffed by GI providers who then are very well-versed in kind of getting over some of the constipation issues and how we can kind of get a little bit more "aggressive" beyond MiraLax and senna.


But I would say that when enemas or some of those over-the-counters are used is when there's been a buildup of stool and we're just starting to make sure that we have the right dosing of medicine. So, putting medicine when you have harder pieces and you've never really cleared it, that's when I often recommend starting with a little enema from below as a one-time thing, just so that a child doesn't feel like, "Oh my goodness, I feel so full. And now, I'm kind of expected to do all the work, that there's not a clear runway to get it out."


Host: Yeah. Wonderful. And for our listeners, yes, you did hear that right. That clinic is called the BRICK Clinic. Yeah, that's exactly right. Yeah. Very good. Well, so Dr. Rentea, on the flip side, at what point then is surgery really required when you actually do recognize a malformation? What's your algorithm there on deciding when surgery is needed?


Dr. Rebecca Rentea: Yeah. So, when we see families in our clinic, we assess the things that I stated. We have medical sizers, so it's not actually only a digital exam. And, if there's a concern for placement size, sometimes we also uncover a family history that everybody has had a variation in their anorectal anatomy. And we then recommend an examination under anesthesia. This is not a surgery, but we are then able to actually assess what we suspect and cannot fully certify in clinic. And then, if there's a variation in any of that, we do recommend a surgery too. What we're trying to accomplish there with that surgery is to make sure the anus is large enough to get stool out and that it's completely surrounded by muscle.


Host: Okay. Great. Thank you. Dr. Rentea, that's a fantastic overview and even some pearls of wisdom along the way for constipation. Really appreciate that. I'll let the listeners know, you know, you were an invited speaker to the European Pediatric Colorectal Conference in Milan. We were talking about travel. What I need to know is, did you do any shopping while you were there? Did you get to do some?


Dr. Rebecca Rentea: I did. It was rather fabulous. So, it was one of the shortest trips I've ever done, but the conference did something fabulous, which is that they right away arranged a tour when you got off the airplane so that you got your Italian experience.


Host: Yeah, great.


Dr. Rebecca Rentea: The shopping, you know, they kind of positioned the shopping mall right next to the Duomo where you can tour. So, a little bit of shopping was done in celebration.


Host: Fantastic. Well, I have one last question before we leave. You go to these conferences and you're talking with your colleagues, I can imagine the conversations for someone who is not an expert in anorectal malformations must be jaw-dropping as you casually talk about the anus and the rectum and evacuation and all those terms. My question is, do you have a lot of spouses and, you know, significant others listening in on your conversation and what's their reaction?


Dr. Rebecca Rentea: So, there's often also children listening in on those conversations. They're rather delighted that we talk about stool as much as we do. And I think that spouses kind of get used to it, and significant others get used to it. I would say that within the conference, you know, you're just so used to discussing in that terms. And internationally, we're one of like five centers in the United States kind of equally spaced out that are as large and as multidisciplinary and have all of the specialties incorporated. So, it's just really an exciting time to kind of talk, and I don't think we really think about how much shop talk we're doing.


And on the kids side, when I see children in clinic, they're, you know, appropriately shy. They haven't met myself or my team. And I often have to say, "Hey, I'm that doctor, and I'm going to ask you a couple questions about what you're doing this summer, but I really do talk about poop." And they kind of look at me. But once we get into that dialogue, I think they get more comfortable that somebody such as myself or my partner or my team would be as very interested in that. And I think a lot of times, you know, this is one of the areas that gets the least amount of popularity, that can kind of be the most covered up, that can be some of the largest burden to families. Kind of a stooling accident or being uncomfortable when you have issues in any of that aspect can make a really significant impact negatively on the quality of life. So, we hope to improve and help that at this hospital.


Host: Yeah. Great. Fantastic. Fantastic. Well, Dr. Rentea, thank you again for joining us today. As a reminder, claim your CME credit by listening to our show today. Visit cmkc.link.com/cmepodcast and click Claim CME button. This has been another episode of Pediatrics in Practice, a CME podcast. See you next time.