Hirschsprung's Disease
With Dr. Jason Frischer & Dr. Aaron Garrison · hosted by Dr. Rod Girardo · StayCurrentMD
Cued at 13:54 · stops at 14:39 · press play
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
Hirschsprung disease is a congenital developmental anomaly of intestinal ganglion cell migration that results in a functional bowel obstruction.
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.
Some infants with Hirschsprung's disease do pass meconium.
Hirschsprung disease has an incidence of about 1 in 5,000 children.
About 10% of children with Hirschsprung disease will have a positive family history.
There are predisposing genetic conditions such as the RET gene that can be associated with Hirschsprung disease.
Up to 10% of children with Hirschsprung's disease will have trisomy 21.
Only 1 to 2% of patients with trisomy 21 have Hirschsprung disease.
Hirschsprung disease is associated with Waardenburg syndrome, congenital central hypoventilation (Ondine's curse), and some other syndromes.
The classic finding on contrast enema is a transition zone in the rectosigmoid, but that transition zone can be located anywhere within the bowel.
A rectosigmoid ratio of less than 1.0 is suggestive of Hirschsprung's disease, meaning the aganglionic bowel is contracted and narrow compared to the dilated ganglionated bowel more proximal.
In total colonic Hirschsprung's disease, a foreshortened or question mark colon can be seen on contrast enema.
Approximately 10% of newborns with Hirschsprung's disease may lack the typical findings on a contrast enema.
Rectal biopsy is the true definitive diagnosis for Hirschsprung disease.
Typical features on rectal 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.
Suction biopsy technique is typically used for patients less than six months of age.
Full thickness biopsy technique should be considered for patients older than six months, or when a suction biopsy is inadequate.
In Hirschsprung's disease, anorectal manometry shows a lack of the rectoanal inhibitory reflex (RAIR).
The rectoanal inhibitory reflex may be absent in other conditions as well, and some children have a false positive test.
Any patient with an absent RAIR must undergo a rectal biopsy for confirmation of the diagnosis.
Enterocolitis is the life-threatening part of Hirschsprung's disease.
NICU babies diagnosed with Hirschsprung's disease are typically managed with irrigations, antibiotics if they show evidence of enterocolitis, and NPO or NG tubes if they're distended.
Older children with Hirschsprung disease often have dilated colon and are not amenable to just doing a primary pull-through in many cases.
The three goals of surgical management are: identify the extent of the aganglionic segment, resect that segment, and restore the bowel to its continuity.
The contrast enema can be used as a roadmap for surgery, and most times it is accurate to where the level is, but not always.
The goal of surgery is to get past the aganglionic segment into the normally innervated bowel that does not have hypertrophic nerves, and to pull that segment of bowel down through and perform anastomosis above the dentate line.
In the Swenson procedure, you pull down the aganglionic bowel and perform a full thickness anastomosis one to two centimeters above the dentate line, leaving the most minimal amount of aganglionic bowel possible.
In the Swenson procedure, it is very important to be cautious about injuring the urethra as it's quite close, especially in boys.
The Suave procedure involves performing a mucosectomy from a transanal approach slightly above the dentate line and pulling through the normal bowel.
In the Suave procedure, the actual anastomosis is performed within a cuff of aganglionic rectum.
The Suave procedure theoretically causes less injury to pelvic structures, nerves, urethra and vagina.
A con of the Suave procedure is that the aganglionic cuff can become stiff enough to cause an obstruction or outlet obstruction.
In the Duhamel procedure, you intentionally leave a portion of the aganglionic rectum behind and bring the normally ganglionated bowel posterior to that rectum, then make an anastomosis using a stapler to create a common panel.
The Duhamel procedure involves less dissection in the pelvis, so there may be less injury to pelvic structures.
Children who have the Duhamel procedure may have higher risks of constipation and stool withholding because they can have trouble evacuating the pouch.
In the Duhamel procedure, the anastomosis can leave a spur if it is not large enough, sometimes requiring revision.
All three surgical techniques (Swenson, Suave, and Duhamel) are equally effective.
Early complications after Hirschsprung surgery include diaper rash and excoriation that can need to be treated like a burn.
Anastomotic leaks are rare but usually show up in the first week after surgery with fever, abdominal distension, and possibly free air, often requiring another operation or proximal diversion.
Hirschsprung's-associated enterocolitis is likely an inflammatory condition secondary to bacterial overgrowth.
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.
Treatment of enterocolitis includes fluid resuscitation, digital rectal exam, and colonic irrigations.
For enterocolitis, antibiotics including metronidazole or broad-spectrum antibiotics are added depending on the severity of presentation.
About 80% of kids with Hirschsprung's disease are constipated and will need some kind of management.
Most patients with rectosigmoid Hirschsprung disease should be continent by the time they enter kindergarten.
For patients not doing well after pull-through, if there is a stricture at the anastomosis, it needs to be addressed either through dilations or revising the pull through procedure.
Anatomic problems after pull-through can include a twist in the pull through, an obstructing cuff, a non-functioning Duhamel pouch, or a transition zone or continued aganglionic segment.
For patients with anatomic problems after pull-through, you typically have to revise the pull through.
For patients without anatomic problems after pull-through, treatment can include bowel management, Botox injection to relieve sphincter tone, or motility studies.