Colorectal Quiz: Episode 46 - Hirschsprung's Disease
With Dr. Jason F Fisher & Dr. Lily Chang & Dr. Mark Levitt & Dr. Christy Ryan · hosted by Dr. Felipe Glu
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Educational content from recorded physician discussions — not medical advice. Talk to your (or your child's) care team about your situation.
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What the experts said
Trisomy 21 is associated with approximately 50 times higher incidence of Hirschsprung disease compared to non-trisomy 21 patients
About 5-10% of trisomy 21 patients have Hirschsprung disease
In Hirschsprung disease with free air, perforation typically occurs in the cecum because the transition zone is usually around the hepatic flexure and the right colon becomes very dilated with nowhere to empty, with the cecum perforating due to Laplace's law
In anorectal malformation patients with delayed diagnosis, perforation typically occurs in the sigmoid colon as a linear longitudinal tear along the taenia
Patients are obstructed both at the sphincter level and in the aganglionic segment in Hirschsprung disease
Breaking the cycle of physiologic obstruction requires getting a tube across the obstruction to allow egress of stool, because stasis is the problem leading to bacterial overgrowth
Proper irrigation technique involves instilling 20-40 mL of warm saline at a time and evacuating it (withdrawing with catheter), not just infusing into the colon lumen
Hirschsprung disease is almost never an emergency operation
Irrigation usually wins the day in Hirschsprung disease management
Rectosigmoid ratio less than 1 on contrast enema is indicative of Hirschsprung disease
Sawtoothing in the rectum on contrast enema indicates not just Hirschsprung disease but Hirschsprung-associated enterocolitis and represents hyperperistalsis
Pathologic diagnosis of Hirschsprung disease requires absence of ganglion cells on 100 histologic levels
Pathologic diagnosis of Hirschsprung disease requires presence of hypertrophic nerves greater than 40 microns
Frozen section can only definitively tell you it is NOT Hirschsprung disease, not that it IS Hirschsprung disease, because confirming Hirschsprung disease requires 100 levels with no ganglion cells anywhere
Calretinin staining is used as a confirmatory test: if calretinin is present, it means ganglion cells are nearby; if calretinin is absent, it further confirms Hirschsprung disease
Literature from PCPLC and Michael Rawlins shows similar outcomes in Hirschsprung disease when definitive surgery is delayed to about 3 months
It is acceptable to wait to do definitive surgery as long as the patient is receiving good irrigations and growing and healthy otherwise
If frozen section is available and shows ganglion cells in the sigmoid, no further mapping biopsies are needed
In areas without frozen section, the entire colon should be mapped with biopsies of left colon, transverse colon, and hepatic flexure/right colon
Cecal pull-throughs do not succeed very well; pull-through should not extend beyond hepatic flexure/distal ascending colon
If the transition zone is proximal to the hepatic flexure, the patient should have their colon removed with ileoanal or ileoduhamel anastomosis rather than attempting to pull through the full right colon
Do not biopsy the appendix for Hirschsprung mapping—it is not helpful
Many patients' appendixes are aganglionic even when they have rectosigmoid Hirschsprung disease
When going to OR electively for pull-through and finding no ganglion cells in sigmoid/left colon, should not do pull-through that day because you want permanent section before discarding any colon
You have to be careful about frozen section in the setting of enterocolitis and basing decisions on frozen section if there is active enterocolitis
Too much inflammation from enterocolitis can prevent pathologists from reading ganglion cells on frozen section
In much of the world without frozen section availability, the strategy is to bring up the dilated portion of colon for ostomy, which is more likely to be functional
In many parts of the world, ileostomy is not an option because patients will not have quick enough access to medical care if they become dehydrated
Using modern technology (H&E stains, camera, microscope, Zoom), images can be sent from areas without pathologists to experts who can evaluate for ganglion cells, and by pure numbers (80% rectosigmoid Hirschsprung disease), this approach is saving a lot of colons
Ileostomy is preferred for diversion in cases where there is time, frozen section is available, and the patient can be kept well hydrated with easy access to healthcare
When patients have a diverting colostomy, the mesentery is sometimes hard to get to reach at pull-through because it is shortened, divided, and becomes inflamed
If you do a good job with pull-through using elegant technique and preserving the anal canal without overstretching sphincters, patients will still get some enterocolitis
Patients who had their sphincters overstretched during Hirschsprung surgery developed fecal incontinence but never got enterocolitis
If you preserve the continence mechanism with elegant technique, you by definition preserve the fact that Hirschsprung patients cannot relax their internal sphincter, and therefore they are susceptible to enterocolitis
A study of Botox injection at 1 month post-pull-through (Columbus protocol) showed it did not help prevent enterocolitis
Cincinnati protocol now injects Botox at the anal sphincter at the time of restoring intestinal continuity; prospective study is ongoing with mid-30s patients enrolled, but it is not 100% foolproof as some patients still developed enterocolitis
Families should be sent home with equipment to irrigate and taught how to irrigate before the pull-through so they can practice, rather than having issues with catheter going through anastomosis post-op day 5 when ready to go home
Cold saline can significantly change the temperature of a small child during irrigation