Welcome to another episode of the Colorectal Quiz. I am Filipe Jalos, Colorectal Research Fellow at Chidwun's National Hospital and today we'll be discussing Hirschsprung disease constipation. Make sure you download the StakeHair and App to follow along with images and other related cases. Welcome back everyone! Today we have a fascinating case from Dr. Chris Geyer coming to us from Children's Hospital Los Angeles. As always, we are joined today by Dr. Jason Fischer and Mark Levitt. Dr. Geyer,
let's start with your case. Sure, so this patient was 20 years old at the time that I met him, the Down syndrome patient, but a pretty high functioning Down syndrome patient. He had a pull-through done around six months of age and has been dealing with constipation and his mom had a myriad of different management schemes she had tried over this time with some intermittent success and currently she was managing with daily intermittent enemas which was becoming problematic
with him going to school. So this patient had surgery as a baby and continued to have problems for 20 years. I thought Hirschsprung was considered curable with surgery. So the ongoing medical management for this patient and his mother was not adequate. What are some reasons for the decrease in the number of patients that are suffering under the condition of Down syndrome? You will find a lot of great information in the description below.
So the ongoing medical management for this patient and his mother was not adequate. What are some reasons for the compensation in these patients. Thank you. So, Dr. Geier, how did you evaluate this patient? We took this patient to the OR for an exam under anesthesia, but they didn't have an X-ray. So we took this patient to the OR for an X-ray. And we got the results that the patient's X-ray results were not good enough. So we took this patient to the OR for an X-ray.
We took this patient to the OR for an exam under anesthesia. We did not identify any strictures at the anoplasty. There was no evidence of a suave cuff. We were pretty sure this was a suave pull-through, although we did not have the operative notes. There was no evidence of a twist. So no evidence of any kind of mechanical problem. Did you do a rectal biopsy? We also did a rectal biopsy. And that rectal biopsy showed abundant ganglion cells, big nerves, and a normal calretinine staining pattern.
So the reason for the biopsy was to determine if there was a retained Hirschsprung segment, correct? Yes. And of course, it's important to remember to look not only at the biopsy, but also how obstructed the patient is. For example, this patient does not have recurrent enterocrylitis, does not have failure to drive, is not chronically distended, and is really behaving more like functional constipation. Dr. Geier, let's get back to your case. Your next step was a contrast enema.
Dr. Levitt, can you describe those findings? Thank you for that detailed description. What happened next? This patient was actually initially referred to our motility team, and so came with some motility testing completed as well. So anal rectomonometry was done, which showed normal resting pressures, an absent rare that was consistent with the previous diagnosis of Hirschsprungs. And they commented that the first sensation the patient had was when the balloon was filled to 70 billion years.
An absent recto-anal inhibitory reflex means that the internal anal sphincter doesn't relax when the rectum is distended, which can contribute to constipation. Just to throw something out there, it's possible that this patient has a sphincter problem, perhaps for their whole life, given that he never emptied well, which could have led to the nerve hypertrophy and constipation behavior. Can I ask one question about your guys' opinion on anal rectomonometry and Botox?
Do you guys routinely need monometry to show a high resting pressure before you would use Botox? And then for a non-cooperative patient, you'd have to empirically treat. Great discussion! Let's get back to our patient. This patient also had colonic manometry to evaluate how well the colon muscles are contracting and moving the stool along. What did his tests show?
We have a pretty robust manometry motility program here, and a lot of patients have encountered this, especially in the post-Hirschsprungs patient, where they come with a colonic manometry done that suggests good contraction. Thank you. Those cases are rare though, where everything has anatomically checked out and it's still not empty. That would be a case for a colonic manometry. For this patient, you have the data now. What do you do with it?
Just to take a step back, HIPCs are high amplitude propagating contractions, which aid in the transfer colonic contents over the long distance and often proceed emptying. This is useful information when treating functional constipation. When medical management is exhausted, these patients can undergo a Malone procedure, which creates a pathway directly into the colon through the abdominal walls for enemas. Thank you. Thank you. Dr. Geier, was this ultimately your plan for the patient?
That's fantastic. It seems like you were able to look past the diagnosis of Hirschsprung disease, which had already been addressed surgically, and really focus on what was causing this patient's current symptoms. What advice would you give to other physicians managing patients with persistent constipation after surgery for Hirschsprung disease? Thank you.
Thank you all for being here today and participating in this robust discussion. I think the most important thing is to remember that while the surgery can correct the underlying anatomical problem in Hirschsprung disease, many other factors can contribute to constipation.
It's essential to take a thorough history, perform a physical exam, and consider all potential causes of constipation, including utility disorders, pelvic floor dysfunction, and behavioral issues. A multidisciplinary approach involving gastroenterologists, surgeons, and pelvic floor therapists is often necessary to provide optimal care for these patients. Thank you.