Dr. Rae Hanke, Dr. Alex Casar, Dr. Jason Frischer, and Dr. Aaron Garrison come together to provide you the essentials on diagnosis and management of Hirschprung's Disease.
Intro and outro tracks are adapted from "I dunno" by grapes, featuring J Lang, Morusque. Artist URL: ccmixter.org/files/grapes/16626
Type: podcast · 20 min · posted 2020-12-30 Canonical: https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187 ## Chapters - [0:00](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=0) Introduction and Epidemiology - [1:55](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=115) Diagnostic Workup - [5:08](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=308) Initial Management and Surgical Goals - [6:59](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=419) Surgical Techniques - [11:46](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=706) Complications and Enterocolitis - [14:51](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=891) Management of Poor Outcomes and Clinical Pearls ## Statements - "Hirschsprung disease is a congenital developmental anomaly of intestinal ganglion cell migration that results in a functional bowel obstruction" — Aaron Garrison (clinical) [0:07](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=7) - "More than 95% of neonates pass meconium within the first 48 hours of life, and failure to pass meconium is typical of Hirschsprung's disease" — Jason Frischer (clinical) [0:35](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=35) - "Some infants with Hirschsprung's disease do pass meconium" — Jason Frischer (clinical) [0:35](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=35) - "Hirschsprung disease has an incidence of about 1 in 5,000 children" — Aaron Garrison (epidemiological) [1:03](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=63) - "About 10% of children with Hirschsprung disease will have a positive family history" — Aaron Garrison (epidemiological) [1:03](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=63) - "The RET gene is a predisposing genetic condition associated with Hirschsprung disease" — Aaron Garrison (clinical) [1:03](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=63) - "Up to 10% of children with Hirschsprung's disease will have trisomy 21" — Aaron Garrison (epidemiological) [1:03](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=63) - "Only 1 to 2% of patients with trisomy 21 have Hirschsprung disease" — Aaron Garrison (epidemiological) [1:03](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=63) - "Hirschsprung disease is associated with Waardenburg syndrome and congenital central hypoventilation (Ondine's curse)" — Aaron Garrison (clinical) [1:03](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=63) - "The classic finding on contrast enema is a transition zone in the rectosigmoid" — Jason Frischer (clinical) [1:57](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=117) - "A rectosigmoid ratio of less than 1.0 is suggestive of Hirschsprung's disease" — Jason Frischer (clinical) [1:57](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=117) - "Approximately 10% of newborns with Hirschsprung's disease may lack the typical findings on a contrast enema" — Jason Frischer (clinical) [1:57](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=117) - "Rectal biopsy is the true definitive diagnosis for Hirschsprung disease" — Jason Frischer (clinical) [1:57](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=117) - "Typical biopsy features include absence of ganglion cells, presence of hypertrophic nerves, abnormal pattern of cholinesterase staining, and an absence of calretinine staining" — Jason Frischer (clinical) [1:57](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=117) - "An adequate biopsy must be taken from the rectum at least one centimeter above the dentate line and must include both mucosa and submucosal layers" — Jason Frischer (guideline) [1:57](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=117) - "In Hirschsprung's disease, anorectal manometry shows a lack of the rectoanal inhibitory reflex (RAIR)" — Jason Frischer (clinical) [4:23](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=263) - "Any patient with an absent RAIR must undergo a rectal biopsy for confirmation of the diagnosis" — Jason Frischer (guideline) [4:23](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=263) - "Enterocolitis is the life-threatening part of Hirschsprung's disease" — Aaron Garrison (clinical) [5:12](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=312) - "There are three goals to the surgical management of Hirschsprung's disease: identify the extent of the aganglionic segment, resect that segment, and restore the bowel to its continuity" — Jason Frischer (guideline) [6:42](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=402) - "The contrast enema can be used as a roadmap for surgery but is not always accurate to where the level is" — Aaron Garrison (clinical) [6:59](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=419) - "The Swenson procedure involves pulling down the aganglionic bowel and performing a full thickness anastomosis one to two centimeters above the dentate line" — Jason Frischer (clinical) [7:36](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=456) - "The Suave procedure involves performing a mucosectomy from a transanal approach slightly above the dentate line and pulling through the normal bowel" — Jason Frischer (clinical) [7:36](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=456) - "In the Suave procedure, the aganglionic cuff can become stiff enough to cause an obstruction or an outlet obstruction" — Jason Frischer (clinical) [7:36](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=456) - "The Duhamel procedure intentionally leaves a portion of the aganglionic rectum behind and brings the normally ganglionated bowel posterior to that rectum" — Aaron Garrison (clinical) [10:15](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=615) - "Children with Duhamel procedure may have higher risks of having constipation and stool withholding" — Aaron Garrison (clinical) [10:15](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=615) - "All three surgical techniques (Swenson, Suave, and Duhamel) are equally effective" — Aaron Garrison (opinion) [10:15](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=615) - "Hirschsprung's-associated enterocolitis is likely an inflammatory condition secondary to bacterial overgrowth" — Jason Frischer (clinical) [12:34](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=754) - "A child with enterocolitis presents with abdominal distension, vomiting, fever, and change in bowel habits that could be either diarrhea or not passing stool at all" — Jason Frischer (clinical) [12:34](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=754) - "Treatment of enterocolitis includes fluid resuscitation, digital rectal exam, and colonic irrigations" — Jason Frischer (guideline) [12:34](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=754) - "About 80% of kids with Hirschsprung's disease are constipated and will need some kind of management" — Aaron Garrison (epidemiological) [13:54](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=834) - "Most patients with rectosigmoid type Hirschsprung disease should be continent by the time they enter kindergarten" — Aaron Garrison (clinical) [13:54](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=834) - "If you're getting past the splenic flexure during surgery for Hirschsprung's disease, stop and await permanent sections and then do a diversion with an ileostomy" — Aaron Garrison (guideline) [17:10](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=1030) - "Patients tend to outgrow episodes of enterocolitis early in life" — Aaron Garrison (clinical) [17:10](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=1030) - "All patients should be able to perform irrigations before they get their pull-through and go home" — Jason Frischer (guideline) [18:35](https://library.globalcastmd.com/watch/hirschsprung-s-disease-3187?t=1115) ## Transcript Hi, I'm Jason Frischer. And I'm Aaron Garrison. We're both pediatric surgeons at Cincinnati Children's. Today we're going to review Hirschsprung's disease. Hirschsprung disease is a congenital developmental anomaly of intestinal ganglion cell migration that results in a functional bowel obstruction. I'm here today with Dr. Jason Frischer and Dr. Aaron Garrison, both pediatric colorectal surgeons at Cincinnati Children's, to discuss Hirschsprung disease. How does Hirschsprung's disease typically present? More than 95% of neonates pass meconium within the first 48 hours of life, and failure to pass meconium is typical of Hirschsprung's disease. However, some infants with Hirschsprung's disease do pass meconium. If an infant who has not passed meconium in the first 48 hours of life presents to your clinic, the possibility of Hirschsprung's disease should be entertained. How common is this condition? Are there any predisposing conditions or familial associations? So Hirschsprung disease is actually relatively common in a busy children's hospital. It's got an incidence of about 1 in 5,000 children. So it is something that does come up quite frequently. Unfortunately, about 10% of children will have a positive family history and means there is some predisposing genetic conditions such as the RET gene that can go along with that. So typically, if we have patients with strong family history, we will have them refer to genetics for evaluation and screening for other potential malignancies. As many of you know, Hirschsprung's disease is associated with trisomy 21, and up to 10% of children with Hirschsprung's disease will have trisomy 21, but only 1 to 2% of patients with trisomy 21 have Hirschsprung disease. There are a few other syndromes that are associated with Hirschsprung disease, including Wordenberg syndrome, congenital central hyperventilation, which is known as Ondine's curse, and some others. What diagnostic workups should be performed? The three studies that should be considered for evaluating for Hirschsprung's disease include contrast enema, rectal biopsy, and possibly anorectal manometry. Let's talk about those individually. A contrast enema can be performed in a child with suspected Hirschsprung disease. We typically use a water-soluble contrast enema, and that helps us differentiate between other causes of neonatal intestinal obstruction, such as meconium alias or intestinal atresia. The classic finding is a transition zone in the rectosigmoid, but that transition zone really can be located anywhere within the bowel. Other findings suggestive of Hirschsprung's disease include a rectosigmoid ratio of less than 1.0. What that really means is that the Hirschsprung's disease, the aganglionic bowel, is contracted and is narrow lumen compared to the dilated, ganglionated bowel more proximal. Also, the inability to evacuate the contrast, and in the case of total colonic Hirschsprung's disease, a foreshortened or question mark colon can be seen on the contrast enema. Approximately 10% of newborns with Hirschsprung's disease may lack the typical findings on a contrast enema. So, if there is a clinical suspicion of the disease, a rectal biopsy must be considered. The second part of a diagnostic workup for Hirschsprung's disease, and most important, is the rectal biopsy. It is the true definitive diagnosis. In a child with suspected Hirschsprung's disease, one can perform a rectal biopsy to confirm the diagnosis. Typical features on the biopsy include absence of ganglion cells, presence of hypertrophic nerves, abnormal pattern of cholinesterase staining, and an absence of calretinine staining. To be considered an adequate biopsy, it must be taken from the rectum at least one centimeter above the dentate line and must include both mucosa and submucosal layers. A rectal biopsy can be obtained through suction technique or open full thickness technique. The suction technique is typically used for patients less than six months of age, and one should consider using a full thickness technique for patients older than six months, or when a suction biopsy is inadequate. And would we get anal rectal manometry on all of these patients? Anal rectal manometry is a newer modality that is sometimes used. One must understand the findings for a patient in Hirschsprung's disease, that when doing anal rectal manometry, there is a lack of the recto anal inhibitory reflex, or RARE, R-A-I-R. This reflex may be absent in other conditions as well, and some children have a false positive test. So any patient with an absent RARE must undergo a rectal biopsy for confirmation of the diagnosis. I like to think and use anal rectal manometry to rule out Hirschsprung's disease in some patients, but when it's undiagnostic or even positive, I still perform a biopsy to provide a definitive diagnosis. What should we do once a diagnosis is made? So the first thing I usually do is talk to the family and give them education about the disease, because most of them have never heard of it and they're not sure what to expect. I usually tell them that their child will need this condition managed for life, but that our expectation is that he or she will also live a normal life with some close management and care by the doctors and nurses. The other short-term thing that we teach families to do is rectal irrigations, and this is best taught before you actually do the operation. So getting the family familiar with them, because as we'll talk about later, enterocolitis is the biggest thing that we get concerned about is it's the life-threatening part of Hirschsprung's disease. NICU babies who are diagnosed with Hirschsprung's disease will typically manage with irrigations, antibiotics if they show evidence of enterocolitis, and NPO or NG tubes if they're distended. Many times, though, they're not distended and you can kind of keep them decompressed by doing irrigations, allowing them to have breast milk until you get to the point where they're ready for surgery. Older children are a little bit more difficult in that they've had this problem since birth, and a lot of times the colon has become dilated, and so they're not amenable to just doing a primary pull-through in many cases. So children like that will start on an enema program. Some may need diversion more proximally to give the colon time to decompress. Everyone we manage a little bit differently, but those are a little bit more challenging groups to kind of decide which operation you're going to do and when. What are the goals of surgical management? There are three goals to the surgical management of Hirschsprung's disease. First, identify the extent of the aganglionic segment. Second, resect that segment. And third, restore the bowel to its continuity. What are the principles of surgical management of Hirschsprung disease? So there are a couple things to keep in mind before you do one of these operations, and that's you can use the contrast enema as a roadmap, and most times they are accurate to where the level is, but not always. So there are a few different techniques to obtain your biopsies. We usually do them laparoscopically, or we'll pull the colon out through the umbilicus to take a full thickness biopsy. The goal is to get past the aganglionic segment into the normally innervated bowel that does not have hypertrophic nerves, and ultimately to pull that segment of bowel down through and perform your anastomosis above the dentate line. What are the common surgical options for Hirschsprung's disease? There are three main surgical options that one would consider when performing surgery for Hirschsprung's disease. There's the Swenson, the Suave, and the Duamel. It's important to understand what each procedure entails, as well as the pros and cons of each. Our preferred technique is the Swenson procedure. Essentially, that's where you pull down the aganglionic bowel, you perform your full thickness anastomosis up one to two centimeters above the dentate line. We like that because it leaves really the most minimal amount of aganglionic bowel that you can, and I think it's possible to do the operation without a lot of stretch or injury to pelvic nerves and blood vessels. Some of the time you can do this completely transanally. I prefer doing a combination of laparoscopic and transanal that really minimize the amount of stretch and transanal dissection that you're doing. But it is very important to be cautious about injuring the urethra as it's quite close, especially in boys. The Swave procedure is another technique, very popular, and is actually the performing of a mucosectomy from a transanal approach slightly above the dentate line and pulling through the normal bowel. Again, this can be performed in combination with a abdominal approach, either open or laparoscopic, to do a majority of the dissection. But the actual anastomosis and very distal dissection is a mucosectomy for a determined length, which can be anywhere from one to many centimeters long. I think over the course of time, the length of that mucosectomy has gotten shorter and shorter. The actual anastomosis is performed within a cuff of aganglionic rectum. And so, in essence, the Swave procedure is performing a mucosectomy, leaving a cuff of aganglionic bowel, and you're pulling through ganglionated bowel through that aganglionated cuff down to perform your anastomosis slightly above the dentate line. The pros of this approach is theoretically less injury to pelvic structures, the nerves in that region, and other structures such as the urethra and vagina, which are in close proximity. The cons of this procedure is that there are times when that aganglionic cuff becomes stiff enough to cause an obstruction or an outlet obstruction of your pulled through ganglionated colon. And what about the Duhamel procedure? So, the Duhamel procedure is where you would intentionally leave a portion of the aganglionic rectum behind and bring the normally ganglionated bowel posterior to that rectum. You then make an anastomosis by using a stapler, and that makes a common panel between the two structures. The pro side of this is that you're not dissecting as much in the pelvis, so there may be less injury to pelvic structures. However, the downside that we see is that some of the children can have trouble evacuating that pouch. So, there may be higher risks of having constipation and stool withholding with a Duhamel. Furthermore, where you do your anastomosis, it can often leave a spur if the anastomosis is not large enough. So, sometimes we have to go in and revise that spur or make the anastomosis larger. There are three different surgical techniques that we just reviewed. All of them are equally effective, and one should perform the technique they're most comfortable with. To review, we have the Swenson technique, which is a full thickness dissection and anastomosis. There's the Suave procedure, which is a mucosectomy. You leave a cuff of aganglionic bowel and bring the ganglionated bowel through that cuff of rectum and perform your anastomosis. And then there's the Duhamel procedure, which is performing a pouch with an anastomosis of aganglionic and ganglionated bowel. What are some common complications for these operations? Dr. So, I like to divide these up into the early and the late complications. So, early on, you can see a really bad diaper rash and excoriation. It can often need to be treated like a burn. Obviously, any time you're anastomosing bowel, you have to be worried about a leak, which fortunately is rare in these patients. So, anastomotic leaks, obviously, are usually going to show up in the first week after surgery. Fever, abdominal distension, maybe free air. And that often requires another operation or a more proximal diversion, depending on the extent of the leak. But probably the main thing everyone needs to be aware of is Hirschsprung's-associated enterocolitis. This is truly a life-threatening problem that everybody needs to be educated on. How do you diagnose and treat Hirschsprung's-associated enterocolitis? Hirschsprung's-associated enterocolitis is poorly understood and likely is an inflammatory condition secondary to bacterial overgrowth. A child who presents with enterocolitis shows up to an emergency room with abdominal distension, vomiting, fever, change in bowel habits that could be either diarrhea or not passing stool at all. And this must be recognized as potential enterocolitis and treated urgently. When we treat these patients with enterocolitis, it is important to provide fluid resuscitation, digital rectal exam, and colonic irrigations. Depending on the severity of the enterocolitis, we sometimes add broad-spectrum antibiotics and we usually start these patients on metronidazole. Enterocolitis can present similarly as gastroenteritis, but because of the severity that is potential in a patient with enterocolitis, we treat them as if they have enterocolitis. And again, the key tenants to treating enterocolitis are fluid resuscitation, digital rectal exam, and colonic irrigations. Adding antibiotic coverage, whether it be through metronidazole or broad-spectrum antibiotics, is dependent on the severity of the presentation. What is the long-term prognosis for these patients? When families ask me what is their prognosis, I think it's hard to tell from the beginning because Hirschsprung's disease is such a spectrum of disease and presentations, and kids who have more syndromic types really are a different category. I would say the most common rectosigmoid type patients, though, really should do well and should be continent by the time they enter kindergarten. I do mention that about 80% of kids with Hirschsprung's disease are constipated and will need some kind of management. I think we do manage their constipation pretty aggressively here. Managing that early and aggressively, I think we prevent some of the complications and things that can show up later, such as when the bowel gets distended and defunctionalized. So assuming that the operation's been done well and that there's not any transition zone or strictures, we expect that most of the patients are going to do very well and be in kindergarten socially continent. For a patient who isn't doing well after a pull through, what are your management options? Great question. I think you have to have a systemic and organized plan when taking care of patients who aren't doing well after surgery for Hirschsprung's disease. And the first and foremost is to take obviously a good history and a good physical exam. If you find that there's a stricture at your anastomosis from a prior pull through for Hirschsprung's disease, then that needs to be addressed either through dilations or revising the pull through procedure. If you don't see a stricture on your physical exam, then typically I get a contrast enema and perform a rectal exam under anesthesia and repeat biopsy to further investigate these patients. Then you have to define whether it's anatomic problem or a functional problem. So anatomic problems can be a twist in your pull through, an obstructing cuff, a non-functioning DUAML pouch, or you could see from your biopsy you have a transition zone or continued aganglionic segment causing a functional obstruction and therefore causing problems in the patient who already had a pull through. For patients with an anatomic problem, you have to revise the pull through typically. For patients who do not have an anatomic problem, a patient can undergo bowel management if necessary, or Botox injection to relieve sphincter tone if necessary, and sometimes even further management or workup, including motility studies, may be required to further delineate if there's a segment of colon that's just not functioning properly. These are very complicated patients and a systematic approach with a physical exam and then a contrast study and an exam under anesthesia helps you start to delineate these patients. And then further treatment either with bowel management or motility studies may be required to really work up these few patients that really struggle after pull through for Hirschsprung's disease. To see our guideline on Hirschsprung's associated enterocolitis, either see the link in our outline or in the state current app, see the suspected Hirschsprung's associated enterocolitis guidelines. Darison, what are your clinical pearls for trainees out there? Things that they should know right off the top of their head when it comes to Hirschsprung's disease? I think there's a couple things or potential traps that you can fall into. So if you're in surgery doing an operation for Hirschsprung's disease and you keep leveling and you're getting past the splenic flexure, I think that's a point that I've been taught to stop and await your permanent sections and then do a diversion with an ileostomy. The reason being you don't want to start pulling through bowel that you don't need to remove. And you also don't want to start doing pelvic dissections when you're potentially dealing with a total colonic Hirschsprung's situation. I think one of the other ones is just, you know, continuing to be aware that you could have a patient with total colonic Hirschsprung's even if the contrast enema doesn't quite reflect that. And being prepared to do an ileostomy and not rushing to do something in the neonatal period, kind of taking a more long-term approach to it. I think we've all seen patients who kind of struggle with episodes of enterocolitis early in life and they ultimately just do tend to kind of outgrow it. So don't necessarily feel like there's something wrong, that you did something wrong, as long as you've kind of taken the steps that Dr. Frischer outlined above and made sure that there's nothing anatomically causing these episodes. Then making sure the family knows how to treat colitis, making sure there's no stricture, and being aggressive about medication, sometimes starting laxatives pretty early on can help quite a bit. I didn't know, Frischer, what pearls would you give? There are so many pearls, but a few that I think of are exposure. I think when doing this, the transanal dissection, having good exposure, we like to use the Lone Star Retractor. Some people use just sutures to expose the anal canal, but I think good visualization of the anal canal is important, which brings me to my next point, which is understanding the anatomy of the anal canal and really being able to identify the dentate line. So I think it is imperative that you identify the dentate line because your dissection transanally, whether that be through a Swensen, Suave, or Duhamel technique, you need to make sure that you're starting your dissection above or proximal to the dentate line in order to get a good result. When we perform our pull-throughs, we usually like to straighten out the colon and sort of remove that sigmoid or S-curve in the sigmoid to allow for sort of a straight-line evacuation path for the stool and also allows for easier irrigations when needed for patients with potential enterocolitis. Which leads me to the last point, which I think is one of the most important points, which is prior to performing a pull-through procedure, I ensure that our families are instructed and can perform irrigations so that if their child happens to have enterocolitis or develop signs and symptoms of enterocolitis, the number one treatment is irrigations. And I would have my families perform irrigations before they even bring the patient to the emergency room. And so all patients, before they get their pull-through and when they're ready to go home, are able to perform irrigations before the pull-through and go home with the proper equipment and supplies to do the irrigations. This is Rod Girardo from Cincinnati Children's Hospital, the contributing editor for this audio chapter. What else do you want to hear? Let us know in the Stay Current app, Twitter, Facebook, or Instagram pages. And remember, knowledge should be free. --- Not medical advice · citation policy: https://library.globalcastmd.com/ai