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Dr. Todd Ponsky

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Hirschsprung Disease in Brief

Video Published 2022-02-10 Updated 2026-08-01

Topic Overview

This discussion covers the diagnosis and management of Hirschsprung disease, a congenital bowel obstruction caused by absent ganglion cells in the distal colon. The speakers review that more than 95% of neonates pass meconium within 48 hours, and failure to do so should prompt consideration of Hirschsprung disease, which has an incidence of approximately 1 in 5,000 children. Diagnostic workup includes contrast enema looking for a transition zone and rectosigmoid ratio less than 1.0, with rectal biopsy being the definitive test showing absence of ganglion cells and presence of hypertrophic nerves. Surgical management involves three main techniques (Swensen, Suave, and Duamel) all using a transanal approach to resect aganglionic bowel and restore continuity, with Hirschsprung-associated enterocolitis being a critical postoperative complication requiring urgent recognition and treatment. Long-term, approximately 80% of patients experience constipation requiring ongoing management, though most achieve social continence by school age.

Key Takeaways

Failure to pass meconium within 48h warrants Hirschsprung workup; incidence is 1 in 5,000 births. (1:11)
Rectal biopsy is definitive: must be >1cm above dentate, include submucosa, show absent ganglion cells. (3:49)
Contrast enema shows transition zone and rectosigmoid ratio <1.0; inability to evacuate contrast is key. (2:42)
Hirschsprung-associated enterocolitis presents with distention, fever, vomiting; treat urgently with fluids, rectal exam, irrigations, antibiotics. (8:48)
All three surgical techniques (Swensen, Suave, Duamel) use transanal approach to resect aganglionic bowel and restore continuity. (7:29)

Inside this episode

Kai, the Library's AI content creator, listened to this episode and mapped who's speaking, the chapters, key claims, and cases. Every item links to the exact moment in the recording.

AI-enriched

Who's speaking

Rod Girardo — host
Jason Frischer — guest
Aaron Garrison — guest

Chapters

0:00Introduction and Epidemiology — Overview of Hirschsprung disease history, presentation, incidence, and familial associations including genetic factors and syndromic associations.
2:16Diagnostic Workup — Detailed review of diagnostic modalities including contrast enema findings, rectal biopsy techniques and pathology, and anorectal manometry with discussion of the recto-anal inhibitory reflex.
5:49Initial Management and Family Counseling — Discussion of family education, short-term management strategies including irrigations and antibiotics for enterocolitis, and differences in approach between neonates and older children.
7:42Surgical Management and Complications — Review of surgical goals, three main operative techniques (Swensen, Suave, Duamel), early and late postoperative complications, and detailed discussion of Hirschsprung-associated enterocolitis recognition and treatment.
10:06Long-term Prognosis — Discussion of long-term outcomes including constipation prevalence and expectations for social continence.

Key claims

0:00The first reports of Hirschsprung disease date back to the 17th century — Rod Girardo
0:00Treatment, workup, management, including operative surgical approach has changed dramatically since the 1940s — Rod Girardo
0:33Hirschsprung disease is a congenital anomaly of the GI tract that results in a functional bowel obstruction — Jason Frischer
0:48The ganglion cells don't make it all the way down distally and the colon ends up not being able to contract — Aaron Garrison
1:11More than 95% of neonates pass meconium within the first 48 hours of life — Jason Frischer
1:11Failure to pass meconium is typical of Hirschsprung's disease — Jason Frischer
1:11If 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 — Jason Frischer
1:32Hirschsprung disease has an incidence of about 1 in 5,000 children — Aaron Garrison
1:43About 10% of children with Hirschsprung disease will have a positive family history — Jason Frischer
1:43There are predisposing genetic conditions such as the RET gene — Jason Frischer
1:43Up to 10% of children with Hirschsprung's disease will have trisomy 21 — Jason Frischer
1:43Only 1 to 2% of patients with trisomy 21 have Hirschsprung's disease — Jason Frischer
1:43Hirschsprung's disease is associated with Wordenberg syndrome, congenital central hyperventilation (Andine's curse), and some other syndromes — Jason Frischer
2:25The three studies that should be considered for evaluating for Hirschsprung's disease include contrast enema, rectal biopsy, and possibly anorectal manometry — Jason Frischer
2:25Water-soluble contrast enema is typically used for evaluation — Jason Frischer
2:42The classic finding on contrast enema is a transition zone in the rectosigmoid, but that transition zone can be located anywhere within the bowel — Jason Frischer
2:55The transition zone is from contracted rectum that suddenly opens up into dilated rectum — Aaron Garrison
3:14A rectosigmoid ratio of less than 1.0 is suggestive of Hirschsprung's disease — Jason Frischer
3:23In Hirschsprung's disease, the rectosigmoid ratio is less than 1, which is the inverse of normal where the rectum is usually more dilated than the proximal colon — Aaron Garrison
3:23Inability to evacuate the contrast is a finding suggestive of Hirschsprung's disease — Aaron Garrison
3:23In total colonic Hirschsprung's disease, a foreshortened or question mark colon can be seen on contrast enema — Aaron Garrison
3:49Rectal biopsy is the most important part of diagnostic workup and is the true definitive diagnosis — Jason Frischer
4:04Typical features on biopsy include absence of ganglion cells, presence of hypertrophic nerves, abnormal pattern of colon esterase staining, and an absence of calretinine staining — Jason Frischer
4:04To be considered an adequate biopsy, it must be taken from the rectum at least 1 cm above the dentate line and must include both mucosa and submucosal layers — Jason Frischer
4:29A rectal biopsy can be obtained through suction technique or open full thickness technique — Jason Frischer
4:29The suction technique is typically used for patients less than 6 months of age — Jason Frischer
4:29One should consider using a full thickness technique for patients older than 6 months or when a suction biopsy is inadequate — Jason Frischer
4:47Suction rectal biopsy is done at the bedside and is painless — Aaron Garrison
4:47If suction biopsy is non-diagnostic, the patient can go to the operating room for a full thickness rectal biopsy done transanally — Aaron Garrison
4:47In anorectal manometry for Hirschsprung disease, there is a lack of the recto anal inhibitory reflex (RAIR) — Aaron Garrison
4:47The RAIR may be absent in other conditions as well, and some children have a false positive test — Aaron Garrison
5:42Any patient with an absent RAIR must undergo a rectal biopsy for confirmation of the diagnosis — Jason Frischer
6:07The expectation is that children with Hirschsprung disease will live a normal life with some close management and care — Aaron Garrison
6:07Children with Hirschsprung disease will need this condition managed for life — Aaron Garrison
6:37NPO babies diagnosed with Hirschsprung disease typically manage with irrigations, antibiotics if they show evidence of enterocolitis, and NPO or NG tubes if they're distended — Aaron Garrison
6:37Many times neonates are not distended and can be kept decompressed by doing irrigations, allowing them to have breast milk until ready for surgery — Aaron Garrison
7:03Older children with Hirschsprung disease are more difficult because the colon has become dilated and they're not amenable to just doing a primary pull through in many cases — Aaron Garrison
7:03Older children will start on an enema program and some may need diversion more proximally to give the colon time to decompress — Aaron Garrison
7:29There are three goals to surgical management: identify the extent of the aganglionic segment, resect that segment, and restore the bowel to its continuity — Jason Frischer
7:59The three procedures for Hirschsprung disease all involve a transanal approach of removing the aganglionic colon and pulling down healthy colon and sewing it to the anus — Jason Frischer
7:59The Swensen technique is a full thickness dissection and anastomosis — Jason Frischer
7:59The Suave procedure is a mucosectomy where you leave a cuff of aganglionic bowel and bring the ganglionated bowel through that cuff of rectum and perform the anastomosis — Jason Frischer
7:59The Duamel procedure involves performing a pouch with an anastomosis of aganglionic and ganglionated bowel — Jason Frischer
8:48Early postoperative complications include really bad diaper rash and excoriation that can often need to be treated like a burn — Aaron Garrison
8:48Anastomotic leak is a complication to watch for, though fortunately rare in these patients — Aaron Garrison
8:48Hirschsprung's associated enterocolitis is the main complication everyone needs to be aware of — Aaron Garrison
9:15Hirschsprung's associated enterocolitis is poorly understood and likely is an inflammatory condition secondary to bacterial overgrowth — Jason Frischer
9:15A child with enterocolitis presents with abdominal distention, vomiting, fever, and change in bowel habits — Jason Frischer
9:15Enterocolitis must be recognized as potential enterocolitis and treated urgently — Jason Frischer
9:15Treatment for enterocolitis includes fluid resuscitation, digital rectal exam, and colonic irrigations — Jason Frischer
9:15Depending on the severity of enterocolitis, broad-spectrum antibiotics are sometimes added and patients are usually started on metronidazole — Jason Frischer
10:09About 80% of kids with Hirschsprung's disease are constipated and will need some kind of management — Aaron Garrison
10:09Assuming the operation's been done well and there's not any transition zone or strictures, most patients are expected to do very well and be in kindergarten socially confident — Aaron Garrison

This episode was analyzed and enriched by Kai, the Library's AI content creator. Every item links to the moment it comes from — click a timestamp to listen in context.

Written for:

Hirschsprung Disease: When Ganglion Cells Don't Migrate and the Colon Won't Relax

The episode's main topic retold as a plain-language walkthrough — what it is, why it matters, and what the speakers concluded. Written by Kai from the episode transcript and reviewed before publishing.

For the care team · Explainer · AI-written, human-reviewed

Why This Exists as a Distinct Problem

Hirschsprung disease exists because embryonic neural crest cells sometimes fail to complete their migration down the developing gut. The result is a distal segment of colon—usually rectosigmoid, sometimes the entire colon—that lacks the ganglion cells necessary for peristalsis 0:33 0:48. That aganglionic segment remains contracted, creating a functional obstruction. The proximal bowel dilates in response, and the infant fails to pass meconium 1:11. At an incidence of 1 in 5,000, this is common enough that any busy children's hospital sees it regularly 1:32. About 10% of affected children have a positive family history, often linked to RET gene mutations 1:43 1:43. Ten percent have trisomy 21, though only 1-2% of children with trisomy 21 have Hirschsprung disease 1:43 1:43. It also associates with Waardenburg syndrome and congenital central hypoventilation 1:43.

The Core Clinical Problem

More than 95% of neonates pass meconium within 48 hours 1:11. Failure to do so should prompt consideration of Hirschsprung disease 1:11. The aganglionic segment cannot relax, so stool does not pass. The proximal colon dilates. If unrecognized, bacterial overgrowth leads to enterocolitis—abdominal distention, vomiting, fever, and a change in bowel habits 9:15—which must be treated urgently 9:15.

How the Diagnosis Works

Three studies matter: contrast enema, rectal biopsy, and sometimes anorectal manometry 2:25. Water-soluble contrast enema typically shows a transition zone—the boundary between contracted aganglionic rectum distally and dilated normal colon proximally 2:42 2:55. A rectosigmoid ratio less than 1.0 is suggestive; normally the rectum is more dilated than the proximal colon, but in Hirschsprung disease the inverse is true 3:14 3:23. Inability to evacuate contrast is another finding 3:23. In total colonic disease, the colon appears foreshortened or question-mark shaped 3:23.

Rectal biopsy is the definitive test 3:49. Pathology shows absent ganglion cells, hypertrophic nerves, abnormal acetylcholinesterase staining, and absent calretinin 4:04. The biopsy must be taken at least 1 cm above the dentate line and must include submucosa 4:04. In infants under 6 months, suction biopsy at the bedside is standard and painless 4:29 4:47. For older children or when suction biopsy is inadequate, full-thickness transanal biopsy in the operating room is used 4:29 4:47.

Anorectal manometry detects absence of the recto-anal inhibitory reflex (RAIR) 4:47, but this finding is not specific—false positives occur 4:47. Any patient with absent RAIR must undergo rectal biopsy for confirmation 5:42.

How the Approach Works

Once diagnosed, neonates are managed with rectal irrigations to decompress the colon, allowing them to feed until surgery 6:37 6:37. If they develop enterocolitis, they receive fluid resuscitation, digital rectal exam, irrigations, and often metronidazole with or without broad-spectrum antibiotics depending on severity 9:15 9:15. Older children present a different problem: their colon has been dilated for months or years and is not amenable to primary pull-through 7:03. They start on an enema program, and some require proximal diversion to allow the colon to decompress before definitive repair 7:03.

Surgical goals are straightforward: identify the extent of aganglionic bowel, resect it, and restore continuity 7:29. All three standard procedures—Swenson, Soave, and Duhamel—use a transanal approach to remove the aganglionic segment and pull down healthy colon to the anus 7:59. They differ in dissection technique. Swenson is a full-thickness dissection and anastomosis 7:59. Soave is a mucosectomy, leaving a cuff of aganglionic muscle and pulling ganglionated bowel through it 7:59. Duhamel creates a pouch by anastomosing aganglionic and ganglionated bowel side-to-side 7:59.

Early postoperative complications include severe diaper rash requiring burn-like management 8:48 and, rarely, anastomotic leak 8:48. The main concern is Hirschsprung-associated enterocolitis, poorly understood but likely related to bacterial overgrowth 8:48 9:15. It must be recognized and treated urgently 9:15.

Where Practice Is Contested

The choice among Swenson, Soave, and Duhamel is largely institutional and surgeon-dependent. The discussants do not advocate for one over another. Anorectal manometry is optional—some centers use it, others proceed directly to biopsy.

When to Involve This Team

Any neonate who has not passed meconium by 48 hours should be evaluated 1:11. Older children with chronic constipation refractory to standard management warrant consideration, especially if there is a history of delayed meconium passage. Once diagnosed, pediatric colorectal surgery manages the condition lifelong 6:07. Families should be counseled that about 80% of children remain constipated and require ongoing management, but most achieve social continence by school age 10:09 10:09. The expectation is a normal life with close follow-up 6:07.

Takeaways from this story

Any neonate who hasn't passed meconium by 48 hours warrants evaluation for Hirschsprung disease—incidence is 1 in 5,000.
Rectal biopsy is definitive; it must include submucosa and be taken >1 cm above the dentate line to show absent ganglion cells.
Enterocolitis—distention, vomiting, fever—is the main complication and requires urgent irrigations, fluids, and often metronidazole.
All three surgical techniques (Swenson, Soave, Duhamel) remove aganglionic bowel transanally; they differ in dissection depth.
Eighty percent remain constipated long-term, but most achieve social continence by school age with ongoing management.

Hirschsprung Disease: From Bedside Recognition to Surgical Correction

The episode's teaching points arranged as a structured lesson, building from the basics up to the finer points. Written by Kai from the episode transcript and reviewed before publishing.

For trainees · Teaching arc · AI-written, human-reviewed

Foundation: What Failure to Pass Meconium Actually Means

More than 95% of neonates pass meconium within 48 hours. 1:11 When an infant hasn't, Hirschsprung disease should move from differential to active consideration 1:11. The pathophysiology is straightforward: ganglion cells fail to migrate distally during development, leaving a segment of colon unable to contract 0:48. This creates a functional obstruction 0:33. The incidence is 1 in 5,000 1:32 — common enough that every pediatric provider will encounter it, rare enough that pattern recognition matters.

Diagnostic Sequence: Why the Contrast Enema Comes First

The contrast enema identifies the transition zone. 2:42 This is the boundary where contracted aganglionic rectum abruptly opens into dilated proximal colon 2:55 — the inverse of normal anatomy where the rectum is the most capacious segment. A rectosigmoid ratio less than 1.0 quantifies this reversal 3:14 3:23. Inability to evacuate contrast adds specificity 3:23. In total colonic disease, look for a foreshortened or question mark colon 3:23. The enema tells you *where* the problem is and guides biopsy planning.

The Biopsy Standard: What Makes It Adequate

Rectal biopsy is the definitive diagnosis. 3:49 But adequacy has specific requirements: the specimen must come from at least 1 cm above the dentate line and must include both mucosa and submucosa 4:04. Below 1 cm, you're sampling the physiologic hypoganglionic zone present in all infants. Without submucosa, you miss the myenteric plexus where ganglion cells reside. For infants under 6 months, suction biopsy at the bedside suffices and is painless 4:29 4:47. Beyond 6 months or when suction yields inadequate tissue, proceed to full-thickness transanal biopsy under anesthesia 4:29 4:47. Pathology should report absence of ganglion cells, hypertrophic nerves, abnormal acetylcholinesterase staining, and absent calretinine 4:04.

When Manometry Misleads

Absent recto-anal inhibitory reflex (RAIR) suggests Hirschsprung but does not confirm it. 4:47 The reflex can be absent in other conditions, producing false positives 4:47. Any absent RAIR mandates rectal biopsy 5:42. Manometry is an adjunct, not a shortcut — it may support your suspicion but cannot replace histology.

Surgical Goals and the Three Approaches

Surgery has three objectives: identify the extent of aganglionic bowel, resect it, and restore continuity. 7:29 All three named procedures — Swenson, Soave, and Duhamel — use a transanal approach to remove aganglionic colon and pull healthy colon to the anus 7:59. They differ in dissection plane and anastomotic technique. Swenson performs full-thickness dissection and anastomosis 7:59. Soave leaves a muscular cuff of aganglionic rectum and pulls ganglionated bowel through it after mucosectomy 7:59. Duhamel creates a side-to-side pouch anastomosis between aganglionic and ganglionated segments 7:59. The choice depends on surgeon experience and anatomic factors, not superiority of one technique over another.

The Complication That Demands Urgency

Hirschsprung-associated enterocolitis is poorly understood, likely inflammatory, and driven by bacterial overgrowth. 9:15 A child presents with distention, vomiting, fever, and altered bowel habits 9:15. Recognize it and treat urgently 9:15: fluid resuscitation, digital rectal exam to decompress, colonic irrigations, and broad-spectrum antibiotics with metronidazole depending on severity 9:15 9:15. This is not a complication to observe — it is the leading cause of mortality in Hirschsprung disease and requires immediate intervention.

Long-Term Reality: Constipation Is the Rule

About 80% of children with Hirschsprung disease will be constipated long-term and require ongoing management. 10:09 The expectation is normal life with close care 6:07, but "normal" includes bowel management programs for most patients. Assuming good surgical technique without residual transition zone or stricture, most children achieve social continence by school age 10:09. The operation corrects the anatomy; it does not restore normal physiology.

Takeaways from this story

Adequate rectal biopsy requires tissue from >1 cm above dentate line with both mucosa and submucosa to avoid false negatives
Absent RAIR on manometry has false positives; any absent reflex mandates confirmatory rectal biopsy before diagnosis
Hirschsprung enterocolitis presents with distention, fever, vomiting—treat urgently with fluids, decompression, irrigations
Expect 80% of post-operative patients to need long-term constipation management despite successful pull-through surgery

Hirschsprung Disease: From Bedside Diagnosis to Definitive Management

The episode's teaching points arranged as a structured lesson, building from the basics up to the finer points. Written by Kai from the episode transcript and reviewed before publishing.

For specialists · Teaching arc · AI-written, human-reviewed

Diagnostic Sequence: Building the Case

Failure to pass meconium is the sentinel finding. More than 95% of neonates pass meconium within 48 hours; those who don't require evaluation for Hirschsprung disease 1:11 1:11. The incidence is 1 in 5,000, common enough that every pediatric service will encounter it 1:32. About 10% have a positive family history, and up to 10% of children with Hirschsprung disease have trisomy 21—though only 1-2% of children with trisomy 21 have Hirschsprung disease 1:43 1:43 1:43. The RET gene is a known predisposing factor 1:43.

Contrast enema reveals the transition zone, but the ratio matters more. The classic finding is a transition zone in the rectosigmoid—contracted aganglionic rectum opening abruptly into dilated proximal colon 2:42 2:55. The rectosigmoid ratio quantifies this: less than 1.0 is diagnostic, the inverse of normal anatomy where the rectum is typically the most dilated segment 3:14 3:23. Inability to evacuate contrast reinforces the diagnosis 3:23. In total colonic disease, look for a foreshortened or question mark colon 3:23.

Rectal biopsy is definitive, but technique determines adequacy. The biopsy must be taken at least 1 cm above the dentate line and must include both mucosa and submucosa 4:04. Suction technique is used for infants under 6 months and can be performed painlessly at the bedside 4:29 4:47. For older children or when suction biopsy is inadequate, proceed to full-thickness transanal biopsy in the operating room 4:29 4:47. Pathology shows absent ganglion cells, hypertrophic nerves, abnormal acetylcholinesterase staining, and absent calretinine 4:04.

Anorectal manometry has limited utility. Absence of the recto-anal inhibitory reflex (RAIR) suggests Hirschsprung disease, but false positives occur in other conditions 4:47 4:47. Any patient with absent RAIR requires rectal biopsy for confirmation—manometry alone cannot establish the diagnosis 5:42.

Surgical Timing: Age Dictates Strategy

Neonates can often be managed with irrigations until definitive repair. If the infant is not distended, rectal irrigations maintain decompression and allow breast milk feeding while awaiting surgery 6:37 6:37. Antibiotics are added only if enterocolitis develops 6:37.

Older children present a different problem. Chronic obstruction has dilated the proximal colon, making primary pull-through less feasible 7:03. These patients require an enema program and may need proximal diversion to allow colonic decompression before definitive repair 7:03.

Operative Approach: Three Techniques, Same Goals

All three procedures use transanal dissection to resect aganglionic bowel and restore continuity. The goals are identical: identify the extent of aganglionosis, resect that segment, and restore bowel continuity 7:29 7:59. The Swenson technique performs full-thickness dissection and anastomosis 7:59. The Soave procedure leaves a muscular cuff of aganglionic rectum and pulls ganglionated bowel through it for mucosa-to-mucosa anastomosis 7:59. The Duhamel creates a side-to-side pouch anastomosis between aganglionic and ganglionated segments 7:59.

Postoperative Management: Enterocolitis is the Threat

Early complications include severe perianal excoriation requiring burn-level wound care. Anastomotic leak is rare but must be monitored 8:48 8:48. The critical complication is Hirschsprung-associated enterocolitis—an inflammatory condition likely driven by bacterial overgrowth 8:48 9:15. Presentation includes abdominal distention, vomiting, fever, and change in bowel habits 9:15. Treatment is urgent: fluid resuscitation, digital rectal exam, colonic irrigations, and metronidazole 9:15 9:15 9:15. Broad-spectrum antibiotics are added for severe cases 9:15.

Long-term, 80% remain constipated and require ongoing management. With a well-executed operation and no residual transition zone or stricture, most children achieve social continence by kindergarten 10:09 10:09. The expectation is a normal life with close management 6:07 6:07.

Takeaways from this story

Rectosigmoid ratio <1.0 on contrast enema quantifies the diagnostic inversion: contracted aganglionic rectum with dilated proximal colon.
Adequate rectal biopsy requires tissue ≥1 cm above dentate line with mucosa and submucosa; suction technique works for infants <6 months.
Older children with chronic dilation often need proximal diversion before pull-through; neonates can usually be managed with irrigations.
Hirschsprung-associated enterocolitis requires urgent treatment: fluids, digital exam, irrigations, and metronidazole for bacterial overgrowth.
80% remain constipated long-term; social continence by kindergarten is achievable with well-executed surgery and no residual transition zone.

Keywords

Hirschsprung disease aganglionosis functional bowel obstruction trisomy 21 Wordenberg syndrome congenital central hyperventilation Andine's curse enterocolitis Hirschsprung's associated enterocolitis constipation total colonic Hirschsprung's disease contrast enema water-soluble contrast enema rectal biopsy suction rectal biopsy

Transcript

The first reports of Hirschsprung disease date back to the 17th century, but treatment, workup, management, including operative surgical approach has changed dramatically since the 1940s. So whether you're team Swenson or Suave, today we're going to break down Hirschsprung disease with a couple experts. Hi, I'm Jason Frischer. He's the director of the colorectal center at Cincinnati Children's Hospital Medical Center. Today we're going to review Hirschsprung disease. Hirschsprung disease is a congenital anomaly of the GI tract that results in a functional bowel obstruction. And that's Dr. Aaron Garrison, a pediatric colorectal surgeon at Cincinnati Children's Hospital Medical Center. The ganglion cells don't make it all the way down distally. The colon ends up not being able to contract. So how does Hirschsprung 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. 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 Hirschsprung disease? 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. Are there any familial associations or risk factors? 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. 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's disease. There are a few other syndromes that are associated with Hirschsprung's disease, including Wordenberg syndrome, congenital central hyperventilation, which is known as Andine's curse, and some others. How do you work up Hirschsprung's disease? The three studies that should be considered for evaluating for Hirschsprung's disease include contrast enema, rectal biopsy, and possibly anorectal manometry. We typically use a water-soluble contrast enema. Alright, so what are you looking for on that enema? The classic finding is a transition zone in the rectosigmoid, but that transition zone really can be located anywhere within the bowel. Hold on a second. What does he mean when he says transition zone? Well remember when Dr. Garrison explained that the nerve cells don't migrate down to the distal part of the rectum? Well, when that happens, it's contracted. And when there's normal nerve cells, it's not contracted. So the transition zone is from contracted rectum and all of a sudden it opens up into dilated rectum. That's the transition zone. Other findings suggestive of Hirschsprung's disease include a rectosigmoid ratio of less than 1.0. A rectosigmoid ratio less than 1? Yes. Just like when you're holding a water balloon and the most distal part is the most dilated, the rectum is usually more dilated than the proximal colon. And in Hirschsprung's disease, the inverse is true, and the rectosigmoid ratio is actually less than 1. 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. The second part of a diagnostic workup for Hirschsprung's disease, and most important, is the rectal biopsy. It is the true definitive diagnosis. So what are the buzzwords on the pathology report that would make us think this is Hirschsprung disease? Typical features on the biopsy include absence of ganglion cells, presence of hypertrophic nerves, abnormal pattern of colon esterase staining, and an absence of calretinine staining. To be considered an adequate biopsy, it must be taken from the rectum at least 1 cm above the dentate line, and must include both mucosa and submucosal layers. What are the different ways to get a biopsy? A rectal biopsy can be obtained through suction technique or open full thickness technique. The suction technique is typically used for patients less than 6 months of age, and one should consider using a full thickness technique for patients older than 6 months or when a suction biopsy is inadequate. So Hirschsprung disease typically presents in a neonate, and as stated, the diagnostic tool of choice is a suction rectal biopsy. This is actually very common and done at the bedside. A small device is inserted into the rectum and deployed, which takes a partial thickness piece of rectum, and this is sent down to the lab. This is painless. Typically this will diagnose Hirschsprung disease, but if this test is non-diagnostic, the patient can go to the operating room for a full thickness rectal biopsy done transanally. Now in very rare cases, typically the older patients, there is an option for anal rectal manometry. When doing anal rectal manometry, there is a lack of the recto anal inhibitory reflex, or RAIR, R-A-I-R. This reflex may be absent in other conditions as well, and some children have a false positive test. Okay, so you do the anal rectal manometry, and then they don't have a RAIR, or you, I guess, have an absent RAIR. What do you do next? So any patient with an absent RAIR must undergo a rectal biopsy for confirmation of the diagnosis. Okay, so you got the contrast enema. It made you think we should move forward with either a suction rectal biopsy or a full thickness biopsy of the colon. And then the pathology report comes back and says, hey, this is aganglionosis. This is Hirschsprung disease. So we have the diagnosis. What do you do next? Well, 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. So we set the expectations for the long term, but what are some short term things that we talk to the families about? The NPO babies who are diagnosed with Hirschsprung 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. Okay, so let's forget about the neonate. What about a children who's a little bit older with Hirschsprung disease? 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. Alright, before we move on to surgical technique, let's just take a step back. What are the goals of surgical management? There are three goals to the surgical management of Hirschsprung disease. First, identify the extent of the aganglionic segment. Second, resect that segment. And third, restore the bowel to its continuity. Alright, so we looked at our preoperative imaging. We're coming up with a plan for surgery. But keep in mind, we have some options for a surgical approach. The three procedures for Hirschsprung disease all involve a transanal approach of removing the aganglionic colon and pulling down healthy colon and sewing it to the anus. Where they differentiate from each other is how much rectal dissection is performed and how the anastomosis is performed. We have the Swensen 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 Duamel procedure, which is performing a pouch with an anastomosis of aganglionic and ganglionated bowel. Alright, what are the postoperative complications to keep an eye out for? So, I like to divide these up into the early and the late complications. So, early on you can see really bad diaper rash and excoriation. It can often need to be treated like a burn. Obviously, anytime you're anastomosing bowel, you have to be worried about a leak, which fortunately is rare in these patients. But probably the main thing everyone needs to be aware of is Hirschsprung's associated enterocolitis. Okay, let's change gears. How about 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 distention, vomiting, fever, change in bowel habits. 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. If you want to see our guidelines for Hirschsprung's associated enterocolitis, download the Stay Current Pediatric Surgery app. It's in the Apple App Store. It's in the Google Play Store. We got guidelines like this and many others for you. What's the long-term prognosis for these patients? I do mention that about 80% of kids with Hirschsprung's disease are constipated and will need some kind of management. 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 confident. Well, there you have it. Our videocast on Hirschsprung's disease. If you like this one and you want more like it, subscribe to our YouTube page and download the Stay Current Pediatric Surgery app. But until next time, I'm Rod Girardo from Cincinnati Children's and remember, knowledge should be free.

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