Ultra-Short Segment Hirschsprung Disease: Difficult Cases

All right, um, go ahead and advance, uh, this is a, a 16 year old trisomy 21 that presented to the GI doctors with an indeterminate, uh, amount of time of constipation, so mom said, oh, he's been constipated since birth, I've had trouble all along, um, and so the GI doctor decided to do a suction rectal biopsy. Uh, got the, the results which did not demonstrate any ganglion cells, and so he referred the patient to me, uh, in talking to the mom, um, he's had trouble all along, uh, with constipation, but he never was hospitalized for any bouts of enterocolitis, uh, was treated with, um, uh, MiraLax, and was stooling only twice a month, so that was kind of the history. Um, I don't think anybody would consider a suction rectal biopsy in a 16-year-old to be adequate opinions. No. Well, I guess it's not, I, I think. I think you have to ask the question, number one, is it a deep enough biopsy? So do you have adequate amount of submucosa? Number 2, is it at the right level? So do you have normal rectal mucosa, or are you getting some transitional epithelium that suggests it might be too low? And thirdly, it's not just presence or absence of ganglion cells, it's also, uh, is there hypertrophy of the nerves. Although in very short segment Hirschman's, you may not see hypertrophy of the nerves, what's the cholinesterase look like? And, um, the last few years, the cal retinin staining has been really, uh, important. In our experience, so I, I, if you have a suction biopsy in a 16 year old that satisfies all those criteria, then it probably is adequate, although most of the time it's not, it's not an adequate biopsy. Right, and, and I didn't consider it adequate. There was, um, scant submucosa as described by the pathologist. So what realistically would be the next step? I mean. And this may be too uh elementary for people, but go ahead and advance the slide. Marked next slide, good. So the gold standards are suction rectal biopsy, I believe in infants, and if you don't get an adequate specimen advance to an open transiental rectal biopsy, oh, and go back one, sorry. Yeah. In any event, um, and then would you plus or minus the barium enema at this point? So those are kind of the points to ponder at this point in the, in the clinical scenario. Go ahead and advance. I did a trans anal rectal biopsy 3 centimeters above the dentate line um and got the pathology, and I was really skeptical about whether this was really short segment Hirschprung's. Um, and the biopsy came back as an excellent quality specimen. There were hypertrophy nerve bundles and abnormal cal retin, lack of significant fiber staining within the mucosa, so they came back with the diagnosis of, um, short segment Hirschprung's at that point, and remember this is in a 16 year old, uh, next slide. I did get a barium enema. It was on unprepped bowels and basically was read as no distinctive transition zone. To my eyes for a 16-year-old with chronic constipation, the colon and the rectosigmoid looked pretty normal. Next slide. I brought him into the hospital because I wanted to get an unprep, I mean a prepped bowel, uh, a barium enema as part of the workup, and I was planning on doing additional biopsies both laparoscopically and transannually so that I could determine a level. Um, so again, the barium enema on, uh, now prep bowel looks pretty normal, um, and he was able to evacuate everything pretty easily. It wasn't like I really had to overcome a distal obstruction and getting him cleaned out. Next slide. So I repeated trans anal rectal biopsies at 56, and 7 centimeters and then performed laparoscopic biopsies at the peritoneal flexion, rectosigmoid, sigmoid proximal and distal, and distal descending. Uh, my plan was to get the permanent results from all of these biopsies and then decide what to do, and I guess this is another discussion point. In a 16 year old, would you do a primary slave? Would you do a Duhamel, and would you protect that with a diversion? Why don't we Stop right there for a second and I'll ask you Jack, your thoughts on some of these questions. So I, I have almost always in 16 year olds with new diagnosis of Hirschprung's disease, they almost always have very dilated. Uh, colons, this colon doesn't look as dilated as, as the ones I've seen. So in my experience, I've usually done a stoma, um, and given them about six months to try and decompress or decrease the size of the colon, and then I've generally done a Duhamel in the older kids. Um, I find trying to, uh, pull a dilated rectum. Through the anus using a transanal technique to require too much stretching of the sphincter like we were talking about before, I think that's, it's an important point to try not to stretch the sphincter. So my, my experience has mainly been to use a Duhamel technique with an initial stoma. Now in this case, that colon doesn't look that dilated, so I might be tempted to try and do it without the stoma. Um, but I probably would still use a Duhamel because I think that rectum is going to be very thick, and I think trying to pull it out through the anus is going to require too much stretching of the sphincter. Yeah, I, I agree with it, especially with large, with. Colon thinking of the Duomo. But Doctor Thair, could you review how much symptomatology did you have? Um, that's the other thing I get it when these things are very low. You know, really how bad off are you? And you have to ask yourself how successful or what kind of repair success do you think you're gonna get, um. You know, even if you find something that you're worried about, are we, is it just, are we fixing it because we get a pathologic piece versus, I mean, what we're after is a, is a functional result, and do we have an adequate functional, he's pooping twice a month. Uh, well, I don't think anybody that, that's, that, that's long. That's a good. I didn't catch that piece. Yeah, he's, and this is all history per mom, um. He apparently had begun to develop autism spectrum disorder and oppositional defiant disorder over the last 18 months or so, and so mom was struggling with the 16-year-old in terms of managing his stool and all of this other kind of business, and I think mom was really uh hopeful that uh surgical uh procedure would fix the problem and I I was. I was a little reticent to kind of go there. It is a challenge. It's hard to think of two months, two stools a month though, leaving a colon like that if the obstruction really is at the anus. That's very difficult for me to, yeah, there's there's a bit of a discrepancy. Yeah, and I'm surprised. I thought Jack would bring this up, but I'm surprised that He wouldn't recommend the Botox injection before doing anything surgical. Well, I don't think Botox is a good treatment for Hirschprung's disease. I think it's a good treatment for somebody who's got obstructive symptoms after a pull through because their sphincter is not relaxing normally, but I, I would not primarily treat established Hirschprung's disease. Are you talking about for diagnosis, Sharif, that's exactly what I, yeah, that's, that's, I'm not looking at it as treatment, but I think it would just. Make me, because the point was made is that the symptoms and the films and everything doesn't really fit, and you have a patient who has other reasons to be constipated. So I'm not necessarily questioning the diagnosis, but I think that would make me, if, if you inject Botox and the patient really does have a significant improvement, I would feel better about a significant surgical intervention. Next slide. Next slide. So the the results came back, I'm sorry. Sorry, there's like a slow, uh, slide change. I think you passed the results came back for all of those biopsies, including the trans anal biopsies all came back as normal, normal alretin, um, the all the biopsies of the colon laparoscopically were all normal. The, the submucosa was not hypertrophied. It was not your typical I've been constipated for 16 years looking bowel. Um, So next slide. In the course of this workup, which I have to say was all done inpatient, I discovered that he had almost 2 L neurogenic bladder. Um. And was, was, when Mom was describing his voiding, it was probably overflowing continence more than anything else. Uh, so given that additional scenario and along with this functional disorder of the colon that we haven't quite. Decided what was going on, I thought I should get an MRI of the lumbar spine. Just to rule out tethered chord as possible etiology for what was happening. Um, I don't have urology at my institution, so I had to consult, um, outside of the state, um, so the urology consult had been pended but was on my mind. Would anybody consider doing any additional surgery at this point to try and delineate if in fact the, the, the first biopsy that I had done was a factual biopsy? Uh, uh, maybe, maybe I don't understand. I. I thought that your biopsy at 3 centimeters had all the findings of Hirschberg's disease, right? And then when you, when you went and did your laparoscopic one, you repeated that rectal biopsy. I did additional higher trans anal rectal biopsy, higher than 3 centimeters, higher than 3 centimeters. Yeah. So to me he's still, he's still got Hirschprung's disease, but he's just got a short. A ganglionic segment and I would still think that a pull through would, would be good that, that, go ahead, Bob. I mean, so the question would be of your opinion, what is ultra short or short in a 16 year old, you know, we have 2 centimeters, we say, or 1 centimeter.5 in a, in a newborn or a kid. I mean when you're 16, is 3 really, are we in a, are we in a different place? Is it? Truly Hirstprung's, if you feel it would be, well, I think it is those markers, you have to say yes. I think if you took your average 16-year-old and did a biopsy at 3 centimeters, you wouldn't find those findings. You would find normal ganglion cells, I guess we would think, but I, we, we don't know, right? Let's take a, let's take a, a normal straightforward kid. You do a suction rectal biopsy. It comes back as positive for Hirschsprung's, all the findings of Hirschsprung's disease. Do you routinely get another biopsy, not just, do you routinely get another low biopsy in the operating, not just you're trying to find your level, but do you repeat that in the operating room? No, I don't. OK, um, so that's the question one, and I know that, um, in cases like this where it's a confusing case, I know of a couple of cases where that was done. And again, and the repeat biopsy is the exact same situation that that repeat biopsy came back as normal, the really low ones of the operation was aborted. I don't know if you remember that. Yeah, so, uh, and so I think that that's the question. This is an unusual case. Things don't really quite go along with Hirsprung's, and so it's a, it's a repeat biopsy now shows normal ganglion cells. Do you proceed unless you're just calling it ultra ultra short segment. Now the question is, uh, Kristen, did you do that, uh, when the, the, would, I guess at that question, you have pathology there at your institution. Yes, and then I also, I also sent it out to um Laurie Children's in Chicago. So you did a, uh, you did a laparoscopic biopsy just above, just at the low before the peritoneal reflection. And that's the one that came back as normal. Am I right? Including the including the transanal biopsies at 56, and 7 centimeters from the dentate line. So I did additional intrarectal biopsies, and they're all normal transanally. Those are all normal. And then did you Repeat like even lower down that 31 again or no? Well, that I'm getting to that. What I eventually ended up doing was I did a strip myomectomy and I spent a 22 centimeter width by 6 centimeter length of posterior, uh, submucosa to the pathologist so they could look at the continuity of ganglion cells from the dentate line up. And I figured that would be diagnostic as well as therapeutic, basically doing a myomectomy for short ultra short segment Hirsch. So how, so how, so what, so how did things end up going? What ended up happening? There were no ganglion cells from the verge to 2 centimeters. There were sparse ganglion cells from 2 to 4 centimeters. There was normal ganglion cells from 4 to 6. There was hypertrophied nerve bundles throughout the entire specimen, including 6 centimeters. The Cretin was the only, was only abnormal at the distal 2 centimeters. Um, after the myomectomy and his recovery, he was able to stool spontaneously. Um, Additionally, uh, I had to end up, uh, putting a Foley catheter in to decompress his bladder, um, and ultimately started intermittent catheterizations, uh, in, in discussions with the urology colleagues, they came up with this Hinman-Allen syndrome, which I had never heard of. And apparently it's a voluntary, um, well, they call it a non-neurogenic neurogenic bladder, and it is 20, it's very prevalent in trisomy 21 kids at this age, and it's a result of voluntary contraction of the pelvic floor muscles where they have both constipation and urinary retention to the point where the bladder becomes. Neurogenic and and it's basically a learned behavior and you overcome it with intermittent catheterizations and um if you can change their behavior, you can salvage the the the kidneys, etc. He fortunately hadn't gotten to the point where he was having significant nephron loss, but. I just thought it was interesting. It's very easy to go down the garden path of, oh, this is just Hirstrung and do what I would consider a big procedure and maybe end up with not the same result. So just to wrap it up, I am curious, just some final thoughts on everyone on, on this case. It's a tough case. Yeah, I, I'm just, it would have been interesting, not that we do it very often, to do intellectum monometry. 16 year old, you'll get better results than you would for, yeah. Yeah, that would have actually maybe in this case determined that this kid is not physiologically got Hirsprung's disease and would have. Would have allowed you to look with suspicion at the pathology results. The problem was that he was very combative and noncompliant, so it was sort of a rock and a hard place situation. Yeah, I think he, I think he had Hirschsprung's disease and I think he would have done well with a, with a Hirschprung's operation. My experience with, uh, this myectomy for these short segment Hirschsprung's patients is that they, they often don't have, um, long term success. Um, they, they end up with a lot more obstructive symptoms and also because you've done a myectomy, usually involving the sphincter, I think they have a higher risk of, of soiling. So, I, I stick with my original plan. I think I, I think he would have done well with the Duhamel. He may do well with what you've done as well. So, um, but, you know, give it, let us know in 10 years. Yeah. Yeah, it's hard for me because I've stopped doing because of your work. So I don't do thyroid function was normal. All, yeah, all of the, all of the other things were normal. Yeah, great case. Thank you.