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Tricks - Ultrashort Segment Hirschsprungs - Kristine Thayer

Video Published 2018-11-10 Updated 2026-08-01

Timestops (6)

Case Presentation and Initial Workup

Presenter introduces a 16-year-old with trisomy 21 and lifelong constipation. Initial suction rectal biopsy showed no ga…

Pathology Results and Imaging

Transanal biopsy at 3 cm confirmed hypertrophied nerves and abnormal calretinin. Barium enema showed no transition zone.…

Surgical Planning and Differential Diagnosis

Panel discusses whether to perform primary pull-through (Soave vs. Duhamel) versus diverting stoma in a 16-year-old. Dis…

Discovery of Neurogenic Bladder

All repeat biopsies (transanal and laparoscopic) returned normal. Patient found to have 2-liter neurogenic bladder with …

Myomectomy and Final Pathology

Surgeon performed posterior strip myomectomy (22 cm × 6 cm) for diagnostic and therapeutic purposes. Pathology showed ag…

Hinman-Allen Syndrome and Outcome

Urology consultation diagnosed Hinman-Allen syndrome: non-neurogenic neurogenic bladder from voluntary pelvic floor cont…

Topic Overview

A 16-year-old with trisomy 21 presented with lifelong constipation, stooling only twice monthly on MiraLAX. Initial suction rectal biopsy showed absent ganglion cells, but subsequent workup revealed conflicting pathology: a 3-cm transanal biopsy demonstrated hypertrophied nerve bundles and abnormal calretinin consistent with Hirschsprung disease, yet higher biopsies (5–7 cm transanally and laparoscopic colonic biopsies) all returned normal. Barium enema showed no transition zone. During workup, a 2-liter neurogenic bladder was discovered, raising concern for Hinman-Allen syndrome—a non-neurogenic neurogenic bladder with voluntary pelvic floor contraction seen in trisomy 21 adolescents. The surgeon performed a posterior myomectomy; pathology of the strip specimen confirmed aganglionosis from the anal verge to 2 cm, sparse ganglion cells from 2–4 cm, and normal ganglion cells beyond 4 cm, with hypertrophied nerves throughout. Post-myomectomy, the patient achieved spontaneous bowel movements and was managed with intermittent catheterization for the bladder dysfunction.

Key Takeaways

Suction rectal biopsy requires adequate submucosa, correct anatomic level, and calretinin staining for reliable Hirschsprung diagnosis. (1:10)
Conflicting pathology at different levels warrants anorectal manometry in cooperative patients to confirm physiologic obstruction. (3:02)
Hinman-Allen syndrome—non-neurogenic neurogenic bladder from voluntary pelvic floor contraction—is prevalent in trisomy 21 adolescents. (15:13)
Myomectomy for short-segment Hirschsprung often fails long-term, with increased obstructive symptoms and soiling risk. (17:00)
Strip myomectomy pathology showed aganglionosis 0-2 cm, sparse ganglion cells 2-4 cm, confirming ultrashort-segment disease. (13:44)

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

Kristine Thayer — guest
Jack — guest
Speaker 3 — host
Bob — guest
Sharif — guest
Speaker 6 — guest

Chapters

0:00Case Presentation and Initial Workup — Presenter introduces a 16-year-old with trisomy 21 and lifelong constipation. Initial suction rectal biopsy showed no ganglion cells. Discussion of adequacy criteria for suction biopsies and decision to proceed with transanal full-thickness biopsy.
2:57Pathology Results and Imaging — Transanal biopsy at 3 cm confirmed hypertrophied nerves and abnormal calretinin. Barium enema showed no transition zone. Additional biopsies obtained transanally (5, 6, 7 cm) and laparoscopically; all returned normal. Discussion of surgical approach in an adolescent.
5:13Surgical Planning and Differential Diagnosis — Panel discusses whether to perform primary pull-through (Soave vs. Duhamel) versus diverting stoma in a 16-year-old. Discrepancy noted between severe symptoms (stooling twice monthly) and relatively normal-appearing colon. Botox injection proposed as diagnostic test.
8:54Discovery of Neurogenic Bladder — All repeat biopsies (transanal and laparoscopic) returned normal. Patient found to have 2-liter neurogenic bladder with overflow incontinence. MRI of lumbar spine ordered to rule out tethered cord. Discussion of whether ultra-short segment Hirschsprung diagnosis remains valid.
11:22Myomectomy and Final Pathology — Surgeon performed posterior strip myomectomy (22 cm × 6 cm) for diagnostic and therapeutic purposes. Pathology showed aganglionosis from verge to 2 cm, sparse ganglion cells 2–4 cm, normal ganglion cells 4–6 cm, with hypertrophied nerves throughout. Patient achieved spontaneous bowel movements post-procedure.
15:13Hinman-Allen Syndrome and Outcome — Urology consultation diagnosed Hinman-Allen syndrome: non-neurogenic neurogenic bladder from voluntary pelvic floor contraction, prevalent in trisomy 21 adolescents. Managed with intermittent catheterization. Panel discusses whether Hirschsprung pull-through would have been preferable and long-term prognosis of myomectomy.

Key claims

1:10Suction rectal biopsy adequacy requires sufficient submucosa depth, correct anatomic level (normal rectal mucosa, not transitional epithelium), assessment of nerve hypertrophy, cholinesterase staining, and calretinin staining. — Jack
1:34In very short segment Hirschsprung disease, nerve hypertrophy may not be present. — Jack
1:41Calretinin staining has become important in Hirschsprung diagnosis in recent years. — Jack
2:25Gold standard for Hirschsprung diagnosis in infants is suction rectal biopsy; if inadequate, proceed to open transanal full-thickness rectal biopsy. — Kristine Thayer
3:02The transanal rectal biopsy at 3 cm above the dentate line showed hypertrophied nerve bundles and abnormal calretinin with lack of significant fiber staining in the mucosa, consistent with short segment Hirschsprung disease. — Kristine Thayer
3:41Barium enema on unprepped bowel showed no distinctive transition zone. — Kristine Thayer
4:41Transanal rectal biopsies at 5, 6, and 7 cm and laparoscopic biopsies at peritoneal reflection, rectosigmoid, proximal and distal sigmoid, and distal descending colon all returned normal. — Kristine Thayer
5:21In 16-year-olds with new diagnosis of Hirschsprung disease, the colon is almost always very dilated. — Jack
5:36In older children with dilated colon, typical approach is to perform a diverting stoma for approximately six months to decompress the colon, followed by a Duhamel procedure. — Jack
5:49Pulling a dilated rectum through the anus using a transanal technique requires excessive stretching of the sphincter, which should be avoided. — Jack
6:49The patient was stooling only twice per month on MiraLAX. — Bob
7:47It is difficult to explain stooling only twice per month with a colon appearance like this if the obstruction is truly at the anus. — Bob
8:09Botox is not a good treatment for established Hirschsprung disease; it is appropriate for obstructive symptoms after pull-through when the sphincter is not relaxing normally. — Jack
8:33Botox injection could serve as a diagnostic test: significant improvement after injection would support proceeding with surgical intervention in a case with conflicting findings. — Sharif
9:40The patient had a nearly 2-liter neurogenic bladder and was experiencing overflow incontinence rather than true voiding. — Kristine Thayer
11:48If a biopsy at 3 cm in an average 16-year-old showed the findings described, it would be abnormal; normal ganglion cells would be expected. — Jack
11:57In straightforward cases with a positive suction rectal biopsy showing all findings of Hirschsprung disease, a repeat low biopsy in the operating room is not routinely performed. — Speaker 3
12:29In confusing cases, repeat biopsies at the same low level have sometimes returned normal when the initial biopsy was positive, leading to abortion of the operation. — Speaker 3
13:44A strip myomectomy specimen (22 cm width × 6 cm length of posterior submucosa) showed no ganglion cells from the anal verge to 2 cm, sparse ganglion cells from 2 to 4 cm, normal ganglion cells from 4 to 6 cm, hypertrophied nerve bundles throughout the entire specimen including at 6 cm, and abnormal calretinin only in the distal 2 cm. — Kristine Thayer
14:46After the myomectomy, the patient was able to stool spontaneously. — Kristine Thayer
15:13Hinman-Allen syndrome is a non-neurogenic neurogenic bladder resulting from voluntary contraction of pelvic floor muscles, causing both constipation and urinary retention to the point where the bladder becomes neurogenic. — Kristine Thayer
15:13Hinman-Allen syndrome is very prevalent in trisomy 21 adolescents and is a learned behavior that can be overcome with intermittent catheterization. — Kristine Thayer
16:19Anorectal manometry in a cooperative 16-year-old could have determined whether the patient physiologically had Hirschsprung disease and would have allowed suspicion of the pathology results. — Speaker 6
16:44The patient was very combative and noncompliant, making anorectal manometry impractical. — Kristine Thayer
16:53This patient had Hirschsprung disease and would have done well with a Hirschsprung operation (Duhamel). — Jack
17:00Myomectomy for short segment Hirschsprung patients often does not have long-term success; patients often have more obstructive symptoms and higher risk of soiling because the myomectomy usually involves the sphincter. — Jack
17:36Thyroid function was normal in this patient. — Kristine Thayer

Cases discussed

0:0016-year-old with trisomy 21, lifelong constipation (stooling twice monthly on MiraLAX), no prior enterocolitis hospitalizations. Developed autism spectrum disorder and oppositional defiant disorder over preceding 18 months. Initial suction rectal biopsy showed absent ganglion cells; transanal biopsy at 3 cm confirmed Hirschsprung findings, but all higher biopsies were normal. Discovered to have 2-liter neurogenic bladder. Diagnosed with Hinman-Allen syndrome.

Points of disagreement

16:53Optimal surgical approach for this patient
- Jack: Patient had Hirschsprung disease and would have done well with a Duhamel procedure. Myomectomy for short segment Hirschsprung often lacks long-term success, with more obstructive symptoms and higher soiling risk due to sphincter involvement.
- Kristine Thayer: Performed myomectomy given conflicting pathology, discovery of Hinman-Allen syndrome, and concern that a major pull-through procedure might not address the underlying functional disorder. Patient achieved spontaneous bowel movements post-myomectomy.
7:59Role of Botox injection in this case
- Sharif: Botox injection would be useful diagnostically: significant improvement would support proceeding with major surgical intervention in a case with conflicting findings and other reasons for constipation.
- Jack: Botox is not a good treatment for established Hirschsprung disease; it is appropriate for post-pull-through sphincter dysfunction, not for primary diagnosis or treatment.

Open questions

What is the appropriate definition of ultra-short or short segment Hirschsprung disease in a 16-year-old, given that anatomic measurements from newborns may not apply?
Should anorectal manometry be routinely performed in adolescents with suspected Hirschsprung disease when pathology is conflicting?
What is the long-term functional outcome of posterior myomectomy for ultra-short segment Hirschsprung disease compared to formal pull-through procedures?
In cases with discordant pathology (positive low biopsy, normal higher biopsies), should a repeat biopsy at the original low level be performed intraoperatively before proceeding with definitive surgery?
How should the presence of Hinman-Allen syndrome influence surgical decision-making in a patient with pathologic evidence of Hirschsprung disease?

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:

Ultra-Short Segment Hirschsprung Disease in Adolescence: Diagnostic Ambiguity and Surgical Judgment

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

Adequacy of rectal biopsy is not binary

A suction rectal biopsy in a 16-year-old is rarely adequate, but adequacy depends on five criteria, not age alone 1:10. The specimen must contain sufficient submucosa, be taken from normal rectal mucosa rather than transitional epithelium, and be assessed for nerve hypertrophy, cholinesterase staining, and calretinin staining 1:10. In very short segment disease, nerve hypertrophy may be absent 1:34, making calretinin staining — which has gained importance in recent years 1:41 — particularly valuable. If the suction biopsy fails any criterion, proceed to open transanal full-thickness biopsy 2:25. The question is not whether the patient is too old for suction biopsy, but whether the specimen satisfies all five markers.

Clinical presentation should match pathology

When a 16-year-old presents with new Hirschsprung diagnosis, the colon is almost always very dilated 5:21. If the colon appears normal on contrast study and the patient evacuates easily, the diagnosis warrants skepticism even when low rectal biopsy shows hypertrophied nerves and abnormal calretinin [c5, c6]. Stooling only twice per month is difficult to reconcile with a colon that looks normal if the obstruction is truly at the anus 7:47. The discordance between pathology and physiology is the signal to pause, not to proceed.

Repeat biopsies at the same level can return normal

In confusing cases where initial low biopsy is positive but higher biopsies are normal 4:41, some surgeons have repeated the low biopsy intraoperatively and found normal ganglion cells where the first biopsy showed Hirschsprung findings 12:29. This is not sampling error in the usual sense — it raises the question of whether ultra-short segment disease exists on a spectrum where the transition from aganglionic to normally ganglionated bowel occurs over millimeters rather than centimeters. A biopsy at 3 cm in an average 16-year-old should show normal ganglion cells 11:48; if it does not, the finding is abnormal, but whether it represents surgically significant disease depends on the clinical picture.

Strip myomectomy provides continuous pathologic assessment

When discrete biopsies yield conflicting results, a posterior strip myomectomy specimen allows the pathologist to assess ganglion cell distribution continuously from the anal verge proximally 13:44. In this case, the specimen showed aganglionosis from verge to 2 cm, sparse ganglion cells from 2 to 4 cm, and normal ganglion cells from 4 to 6 cm, with hypertrophied nerve bundles throughout but abnormal calretinin only in the distal 2 cm 13:44. This gradient pattern supports ultra-short segment Hirschsprung disease and explains why higher discrete biopsies returned normal. The myomectomy is both diagnostic and therapeutic, though its long-term success in short segment disease is limited 17:00.

Hinman-Allen syndrome mimics and compounds Hirschsprung disease

In adolescents with trisomy 21, Hinman-Allen syndrome — a non-neurogenic neurogenic bladder from voluntary pelvic floor contraction — is prevalent and causes both constipation and urinary retention severe enough to render the bladder neurogenic [c21, c22]. The patient in this case had a nearly 2-liter neurogenic bladder and overflow incontinence 9:40. The syndrome is a learned behavior treatable with intermittent catheterization 15:13, but it complicates the clinical picture by producing constipation independent of any distal intestinal obstruction. When a patient has both pathologic findings consistent with Hirschsprung disease and a behavioral syndrome that produces identical symptoms, the risk of overtreatment is high.

Functional testing could have resolved diagnostic uncertainty

Anorectal manometry in a cooperative 16-year-old could have determined whether the patient physiologically had Hirschsprung disease and would have allowed suspicion of the pathology results 16:19. The absence of the rectoanal inhibitory reflex is the physiologic signature of Hirschsprung disease; if manometry shows a normal reflex, the pathologic findings must be reinterpreted. In this case, the patient was too combative and noncompliant for manometry 16:44, forcing reliance on pathology alone. When pathology and clinical picture diverge, functional testing is the tiebreaker — but only if the patient will tolerate it.

The Duhamel remains the reference operation for adolescent Hirschsprung disease

Despite the diagnostic ambiguity, one discussant maintained that this patient had Hirschsprung disease and would have done well with a Duhamel procedure 16:53. In older children with dilated colon, the typical approach is a diverting stoma for approximately six months to decompress the colon, followed by Duhamel 5:36. Pulling a dilated rectum through the anus using a transanal technique requires excessive sphincter stretching, which should be avoided 5:49. Myomectomy for short segment Hirschsprung patients often lacks long-term success, with patients experiencing more obstructive symptoms and higher risk of soiling because the myomectomy usually involves the sphincter 17:00. The Duhamel avoids sphincter injury and remains the standard when the diagnosis is secure — the question here is whether the diagnosis was secure.

Takeaways from this story

Rectal biopsy adequacy requires five criteria: submucosa depth, correct level, nerve hypertrophy assessment, cholinesterase, and calretinin.
When pathology shows Hirschsprung but colon appears normal and evacuates easily, the diagnosis warrants skepticism despite positive markers.
Strip myomectomy provides continuous ganglion cell assessment when discrete biopsies yield conflicting results in ultra-short segment disease.
Hinman-Allen syndrome in trisomy 21 adolescents causes constipation and urinary retention from voluntary pelvic floor contraction, mimicking Hirschsprung.
Myomectomy for short segment Hirschsprung often lacks long-term success; Duhamel after stoma decompression remains the reference operation.

Duhamel vs Myomectomy for Adolescent Ultra-Short Segment Hirschsprung Disease

The points where the speakers disagreed, with each position presented side by side. Written by Kai from the episode transcript and reviewed before publishing.

For specialists · Points of disagreement · AI-written, human-reviewed

The Clinical Question

A 16-year-old with trisomy 21 presented with severe constipation — stooling only twice per month on MiraLAX 6:49. Transanal rectal biopsy at 3 cm showed hypertrophied nerve bundles and abnormal calretinin consistent with short segment Hirschsprung disease 3:02, but the barium enema revealed no transition zone 3:41 and the colon appeared relatively normal for someone with chronic constipation. Higher biopsies at 5, 6, and 7 cm and laparoscopic biopsies throughout the colon all returned normal 4:41. The patient also had a nearly 2-liter neurogenic bladder 9:40, later attributed to Hinman-Allen syndrome — a non-neurogenic neurogenic bladder from voluntary pelvic floor contraction, very prevalent in trisomy 21 adolescents [c21, c22].

The disagreement centred on whether this patient had true Hirschsprung disease requiring a formal pull-through procedure, or whether the pathology represented an anatomic variant in the context of a functional disorder better addressed with a limited myomectomy.

Position One: Hirschsprung Disease Warranting Duhamel Procedure

One discussant maintained that the patient had Hirschsprung disease and would have done well with a Duhamel procedure 16:53. The rationale: a biopsy at 3 cm in an average 16-year-old showing hypertrophied nerves and abnormal calretinin would be abnormal — normal ganglion cells would be expected at that level 11:48. The pathology met the diagnostic criteria for Hirschsprung disease, and the appropriate response to that diagnosis is a definitive pull-through operation.

This position emphasized that myomectomy for short segment Hirschsprung patients often lacks long-term success 17:00. The concern was that a limited procedure would leave the patient with persistent obstruction and add sphincter dysfunction on top of it.

For older adolescents with dilated colon — though this colon was less dilated than typical 5:21 — the standard approach would be a diverting stoma for approximately six months to decompress the colon, followed by a Duhamel procedure 5:36. Pulling a dilated rectum through the anus using a transanal technique requires excessive sphincter stretching, which should be avoided 5:49. The Duhamel approach addresses the aganglionic segment while preserving sphincter integrity.

Position Two: Myomectomy Given Diagnostic Uncertainty and Functional Overlay

The operating surgeon performed a strip myomectomy — a 22 cm width × 6 cm length posterior submucosa specimen — which showed no ganglion cells from the anal verge to 2 cm, sparse ganglion cells from 2 to 4 cm, normal ganglion cells from 4 to 6 cm, hypertrophied nerve bundles throughout the entire specimen including at 6 cm, and abnormal calretinin only in the distal 2 cm 13:44. After the myomectomy, the patient was able to stool spontaneously 14:46.

This approach reflected several concerns. The clinical picture did not fit classic Hirschsprung disease: stooling only twice per month is difficult to explain with a colon appearance like this if the obstruction is truly at the anus 7:47. The barium enema showed no transition zone 3:41. The discovery of Hinman-Allen syndrome — voluntary pelvic floor contraction causing both constipation and urinary retention 15:13 — suggested a significant functional component that a major pull-through might not address.

The myomectomy served both diagnostic and therapeutic purposes: it provided a continuous specimen from the dentate line upward to definitively map ganglion cell distribution, and it addressed the ultra-short aganglionic segment without the morbidity of a formal pull-through in a patient with multiple complicating factors. The concern was that proceeding with a major Hirschsprung operation based on one positive biopsy in a patient with atypical presentation and a known functional disorder might result in a big procedure without the expected functional result.

Diagnostic Uncertainty

A third discussant suggested that anorectal manometry in a cooperative 16-year-old could have determined whether the patient physiologically had Hirschsprung disease and would have allowed suspicion of the pathology results 16:19. However, the patient was very combative and noncompliant, making manometry impractical 16:44.

Another discussant raised the possibility of Botox injection as a diagnostic test rather than treatment: significant improvement after injection would support proceeding with major surgical intervention in a case with conflicting findings and other reasons for constipation 8:33. This was countered with the position that Botox is not a good treatment for established Hirschsprung disease — it is appropriate for obstructive symptoms after pull-through when the sphincter is not relaxing normally, not for primary diagnosis or treatment 8:09.

What Remains Unresolved

The discussants agreed that the pathology at 3 cm was abnormal and that the patient had some degree of distal intestinal pathology. They agreed that the clinical picture was atypical and that the discovery of Hinman-Allen syndrome complicated management. The disagreement was whether the pathologic findings constituted true Hirschsprung disease requiring definitive surgical correction, or whether they represented an anatomic variant in a patient whose primary problem was functional.

Long-term functional outcome will determine which approach was correct. The myomectomy achieved immediate spontaneous stooling 14:46, but whether this result persists or whether the patient develops the obstructive symptoms and soiling predicted for myomectomy patients 17:00 remains to be seen.

Takeaways from this story

Myomectomy for short segment Hirschsprung often fails long-term with more obstruction and soiling risk from sphincter involvement.
Stooling twice monthly is difficult to explain with this colon appearance if obstruction is truly at the anus.
Hinman-Allen syndrome — voluntary pelvic floor contraction — is very prevalent in trisomy 21 adolescents, causing both constipation and urinary retention.
Strip myomectomy specimen showed no ganglion cells from anal verge to 2 cm, sparse 2-4 cm, normal 4-6 cm, but hypertrophied nerves throughout.

Ultra-Short Segment Hirschsprung Disease: When Pathology and Clinical Picture Diverge

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 Diagnosis Exists

Hirschsprung disease — congenital absence of ganglion cells in the distal bowel — typically presents in infancy with failure to pass meconium or early-onset constipation. The aganglionic segment extends from the anus proximally, most commonly involving the rectosigmoid. In classic cases, the transition zone is visible on contrast enema and the diagnosis is straightforward. Ultra-short segment disease, where aganglionosis is confined to the distal 2–4 cm of rectum, exists at the diagnostic margin. The colon above looks normal. The contrast study shows no transition. The clinical picture is ambiguous. These patients force the question: when does pathologic aganglionosis constitute functional Hirschsprung disease?

The Core Clinical Problem

A 16-year-old with trisomy 21 presented with lifelong constipation, stooling only twice monthly despite laxatives 6:49. Initial suction rectal biopsy showed no ganglion cells, but adequacy was uncertain — in adolescents, suction biopsies rarely capture sufficient submucosa 1:10. Transanal full-thickness biopsy at 3 cm confirmed hypertrophied nerves and abnormal calretinin staining, consistent with Hirschsprung disease 3:02. Yet the barium enema showed no transition zone 3:41, and the colon appeared surprisingly normal for a 16-year-old with such severe symptoms 5:21. Higher biopsies — transanal at 5, 6, 7 cm and laparoscopic samples throughout the left colon — all returned normal 4:41.

The discrepancy was stark: pathology said Hirschsprung, but the clinical picture did not fit. One discussant noted the difficulty of reconciling such severe constipation with an obstruction confined to the distal rectum in a colon showing no proximal dilation 7:47. The patient's symptoms seemed disproportionate to a 3 cm aganglionic segment.

Diagnostic Approach and Pitfalls

A suction rectal biopsy is adequate only if it meets multiple criteria: sufficient submucosa depth, correct anatomic level (normal rectal mucosa, not transitional epithelium near the dentate line), assessment for nerve hypertrophy, cholinesterase staining, and calretinin staining 1:10. Calretinin has become particularly important in recent years 1:41. In very short segment disease, nerve hypertrophy may be absent 1:34, making histochemical staining essential.

When initial pathology is positive but the clinical picture is confusing, repeat biopsy at the same low level can yield different results. In some cases, a second biopsy has returned normal when the first showed Hirschsprung findings, leading to abortion of planned pull-through procedures 12:29. This is not sampling error — it reflects the patchy distribution of ganglion cells at the transition zone in ultra-short segment disease.

One discussant proposed Botox injection as a diagnostic test: significant symptomatic improvement after sphincter injection would support proceeding with definitive surgery in a case with conflicting findings 8:33. This is distinct from using Botox therapeutically, which is appropriate for post-pull-through sphincter dysfunction but not for established Hirschsprung disease 8:09.

The Confounding Factor

During inpatient workup, the patient was found to have a nearly 2-liter neurogenic bladder with overflow incontinence 9:40. Urology diagnosed Hinman-Allen syndrome: a non-neurogenic neurogenic bladder resulting from voluntary pelvic floor contraction, causing both urinary retention and constipation severe enough to render the bladder neurogenic 15:13. The condition is prevalent in adolescents with trisomy 21 and represents a learned behavior manageable with intermittent catheterization 15:13. The patient's noncompliance precluded anorectal manometry, which might have clarified whether he had physiologic Hirschsprung disease 16:19.

Surgical Resolution and Pathologic Findings

The surgeon performed a posterior strip myomectomy, excising a specimen of posterior submucosa for continuous pathologic assessment from the anal verge proximally 13:44. This provided both diagnosis and treatment. Pathology showed a gradient: no ganglion cells from verge to 2 cm, sparse ganglion cells from 2–4 cm, normal ganglion cells from 4–6 cm, with hypertrophied nerve bundles throughout the entire specimen and abnormal calretinin only in the distal 2 cm 13:44. After myomectomy, the patient achieved spontaneous bowel movements 14:46.

The Contested Question

Did this patient have Hirschsprung disease requiring pull-through, or ultra-short segment pathology that could be managed with myomectomy? One discussant argued the patient had Hirschsprung disease and would have done well with a Duhamel procedure 16:53. The concern with myomectomy is durability: these patients often develop recurrent obstructive symptoms and higher soiling rates because the myomectomy involves the sphincter 17:00. In a typical 16-year-old, a biopsy at 3 cm would show normal ganglion cells; finding Hirschsprung pathology at that level is abnormal 11:48.

The counterargument: this patient had Hinman-Allen syndrome driving both bladder and bowel dysfunction. Performing a major pull-through operation might not have addressed the underlying pelvic floor dysfunction and could have resulted in worse functional outcomes.

When to Involve Pediatric Surgery

Refer adolescents with severe, lifelong constipation unresponsive to medical management, particularly those with trisomy 21 or other risk factors for Hirschsprung disease. Refer earlier if there is failure to thrive, abdominal distension, or enterocolitis. In adolescents, the diagnosis is more complex than in infants — expect ambiguous imaging, consider pelvic floor dysfunction as a confounding factor, and recognize that pathology alone may not dictate surgical approach. Anorectal manometry, when feasible, can clarify whether functional obstruction is present. The goal is not simply to confirm aganglionosis but to determine whether the patient has physiologic Hirschsprung disease that will respond to pull-through.

Takeaways from this story

Ultra-short segment Hirschsprung may show normal colon appearance on imaging despite severe constipation, creating diagnostic ambiguity.
Repeat biopsy at the same low rectal level can yield different results in ultra-short segment disease due to patchy ganglion cell distribution.
Hinman-Allen syndrome — voluntary pelvic floor contraction causing neurogenic bladder — is prevalent in adolescents with trisomy 21 and mimics Hirschsprung.
Strip myomectomy provides continuous pathologic assessment but may have worse long-term functional outcomes than definitive pull-through.
Anorectal manometry can clarify whether functional obstruction is present when clinical and pathologic findings conflict.

Keywords

Hirschsprung disease short segment Hirschsprung disease ultra-short segment Hirschsprung disease trisomy 21 constipation enterocolitis autism spectrum disorder oppositional defiant disorder neurogenic bladder Hinman-Allen syndrome non-neurogenic neurogenic bladder overflow incontinence tethered cord suction rectal biopsy transanal full-thickness rectal biopsy

Hashtags

#Trisomy21 #Constipation #HirschsprungsDisease #PediatricSurgery #Gastroenterology #NeurogenicBladder #BariumEnema #SuctionRectalBiopsy #TransanalBiopsy #SurgicalTechniques #CalretininStaining #HypertrophyNerves #FunctionalDisorder #AutismSpectrumDisorder #OppositionalDefiantDisorder #Enterocolitis #LaparoscopicBiopsy #TetheredCord #DuhamelProcedure #Myomectomy #HirschsprungDisease #ColorectalSurgery #DownSyndrome

Transcript

All right, um, go ahead and advance, uh, this is a, a 16 year old trisomy 21 that presented to the GI doctors with an indeterminate, uh, amount of time of constipation, so mom said, oh, he's been constipated since birth, I've had trouble all along, um, and so the GI doctor decided to do a suction rectal biopsy. Uh, got the results which did not demonstrate any ganglion cells, and so he referred the patient to me, uh, in talking to the mom, um, he's had trouble all along, uh, with constipation, but he never was hospitalized for any bouts of enterocolitis, uh, was treated with, um, uh, MiraLax, and was stooling only twice a month, so that was kind of the history. Um, I don't think anybody would consider a suction rectal biopsy in a 16-year-old to be adequate opinions. No. Well, I guess it's not, I, I think. I think you have to ask the question, number one, is it a deep enough biopsy? So do you have adequate amount of submucosa? Number 2, is it at the right level? So do you have normal rectal mucosa, or are you getting some transitional epithelium that suggests it might be too low? And thirdly, it's not just presence or absence of ganglion cells, it's also, uh, is there hypertrophy of the nerves. Although in very short segment Hirschman's, you may not see hypertrophy of the nerves, what's the cholinesterase look like? And, um, the last few years, the cal retinin staining has been really, uh, important. In our experience, so I, I, if you have a suction biopsy in a 16 year old that satisfies all those criteria, then it probably is adequate, although most of the time it's not, it's not an adequate biopsy. Right, and, and I didn't consider it adequate. There was, um, scant submucosa as described by the pathologist. So what realistically would be the next step? I mean. And this may be too uh elementary for people, but go ahead and advance the slide. Marked next slide, good. So the gold standards are suction rectal biopsy, I believe in infants, and if you don't get an adequate specimen advance to an open transiental rectal biopsy, oh, and go back one, sorry. Yeah. In any event, um, and then would you plus or minus the barium enema at this point? So those are kind of the points to ponder at this point in the, in the clinical scenario. Go ahead and advance. I did a trans anal rectal biopsy 3 centimeters above the dentate line um and got the pathology, and I was really skeptical about whether this was really short segment Hirschprung's. Um, and the biopsy came back as an excellent quality specimen. There were hypertrophy nerve bundles and abnormal cal retin, lack of significant fiber staining within the mucosa, so they came back with the diagnosis of, um, short segment Hirschprung's at that point, and remember this is in a 16 year old, uh, next slide. I did get a barium enema. It was on unprepped bowels and basically was read as no distinctive transition zone. To my eyes for a 16-year-old with chronic constipation, the colon and the rectosigmoid looked pretty normal. Next slide. I brought him into the hospital because I wanted to get an unprep, I mean a prepped bowel, uh, a barium enema as part of the workup, and I was planning on doing additional biopsies both laparoscopically and transannually so that I could determine a level. Um, so again, the barium enema on, uh, now prep bowel looks pretty normal, um, and he was able to evacuate everything pretty easily. It wasn't like I really had to overcome a distal obstruction and getting him cleaned out. Next slide. So I repeated trans anal rectal biopsies at 56, and 7 centimeters and then performed laparoscopic biopsies at the peritoneal flexion, rectosigmoid, sigmoid proximal and distal, and distal descending. Uh, my plan was to get the permanent results from all of these biopsies and then decide what to do, and I guess this is another discussion point. In a 16 year old, would you do a primary slave? Would you do a Duhamel, and would you protect that with a diversion? Why don't we Stop right there for a second and I'll ask you Jack, your thoughts on some of these questions. So I, I have almost always in 16 year olds with new diagnosis of Hirschprung's disease, they almost always have very dilated. Uh, colons, this colon doesn't look as dilated as, as the ones I've seen. So in my experience, I've usually done a stoma, um, and given them about six months to try and decompress or decrease the size of the colon, and then I've generally done a Duhamel in the older kids. Um, I find trying to, uh, pull a dilated rectum. Through the anus using a transanal technique to require too much stretching of the sphincter like we were talking about before, I think that's, it's an important point to try not to stretch the sphincter. So my, my experience has mainly been to use a Duhamel technique with an initial stoma. Now in this case, that colon doesn't look that dilated, so I might be tempted to try and do it without the stoma. Um, but I probably would still use a Duhamel because I think that rectum is going to be very thick, and I think trying to pull it out through the anus is going to require too much stretching of the sphincter. Yeah, I, I agree with it, especially with large, with. Colon thinking of the Duomo. But Doctor Thair, could you review how much symptomatology did you have? Um, that's the other thing I get it when these things are very low. You know, really how bad off are you? And you have to ask yourself how successful or what kind of repair success do you think you're gonna get, um. You know, even if you find something that you're worried about, are we, is it just, are we fixing it because we get a pathologic piece versus, I mean, what we're after is a, is a functional result, and do we have an adequate functional, he's pooping twice a month. Uh, well, I don't think anybody that, that's, that, that's long. That's a good. I didn't catch that piece. Yeah, he's, and this is all history per mom, um. He apparently had begun to develop autism spectrum disorder and oppositional defiant disorder over the last 18 months or so, and so mom was struggling with the 16-year-old in terms of managing his stool and all of this other kind of business, and I think mom was really uh hopeful that uh surgical uh procedure would fix the problem and I I was. I was a little reticent to kind of go there. It is a challenge. It's hard to think of two months, two stools a month though, leaving a colon like that if the obstruction really is at the anus. That's very difficult for me to, yeah, there's there's a bit of a discrepancy. Yeah, and I'm surprised. I thought Jack would bring this up, but I'm surprised that He wouldn't recommend the Botox injection before doing anything surgical. Well, I don't think Botox is a good treatment for Hirschprung's disease. I think it's a good treatment for somebody who's got obstructive symptoms after a pull through because their sphincter is not relaxing normally, but I, I would not primarily treat established Hirschprung's disease. Are you talking about for diagnosis, Sharif, that's exactly what I, yeah, that's, that's, I'm not looking at it as treatment, but I think it would just. Make me, because the point was made is that the symptoms and the films and everything doesn't really fit, and you have a patient who has other reasons to be constipated. So I'm not necessarily questioning the diagnosis, but I think that would make me, if, if you inject Botox and the patient really does have a significant improvement, I would feel better about a significant surgical intervention. Next slide. Next slide here it comes. So the the results came back, I'm sorry. Sorry, there's like a slow, uh, slide change. I think you passed the results came back for all of those biopsies, including the trans anal biopsies all came back as normal, normal alretin, um, the all the biopsies of the colon laparoscopically were all normal. The, the submucosa was not hypertrophied. It was not your typical I've been constipated for 16 years looking bowel. Um, So next slide. In the course of this workup, which I have to say was all done inpatient, I discovered that he had almost 2 L neurogenic bladder. Um. And was, was, when Mom was describing his voiding, it was probably overflowing continence more than anything else. Uh, so given that additional scenario and along with this functional disorder of the colon that we haven't quite. Decided what was going on, I thought I should get an MRI of the lumbar spine. Just to rule out tethered chord as possible etiology for what was happening. Um, I don't have urology at my institution, so I had to consult, um, outside of the state, um, so the urology consult had been pended but was on my mind. Would anybody consider doing any additional surgery at this point to try and delineate if in fact the, the, the first biopsy that I had done was a factual biopsy? Uh, uh, maybe, maybe I don't understand. I. I thought that your biopsy at 3 centimeters had all the findings of Hirschberg's disease, right? And then when you, when you went and did your laparoscopic one, you repeated that rectal biopsy. I did additional higher trans anal rectal biopsy, higher than 3 centimeters, higher than 3 centimeters. Yeah. So to me he's still, he's still got Hirschprung's disease, but he's just got a short. A ganglionic segment and I would still think that a pull through would, would be good that, that, go ahead, Bob. I mean, so the question would be of your opinion, what is ultra short or short in a 16 year old, you know, we have 2 centimeters, we say, or 1 centimeter.5 in a, in a newborn or a kid. I mean when you're 16, is 3 really, are we in a, are we in a different place? Is it? Truly Hirstprung's, if you feel it would be, well, I think it is those markers, you have to say yes. I think if you took your average 16-year-old and did a biopsy at 3 centimeters, you wouldn't find those findings. You would find normal ganglion cells, I guess we would think, but I, we, we don't know, right? Let's take a, let's take a, a normal straightforward kid. You do a suction rectal biopsy. It comes back as positive for Hirschsprung's, all the findings of Hirschsprung's disease. Do you routinely get another biopsy, not just, do you routinely get another low biopsy in the operating, not just you're trying to find your level, but do you repeat that in the operating room? No, I don't. OK, um, so that's the question one, and I know that, um, in cases like this where it's a confusing case, I know of a couple of cases where that was done. And again, and the repeat biopsy is the exact same situation that that repeat biopsy came back as normal, the really low ones of the operation was aborted. I don't know if you remember that. Yeah, so, uh, and so I think that that's the question. This is an unusual case. Things don't really quite go along with Hirsprung's, and so it's a, it's a repeat biopsy now shows normal ganglion cells. Do you proceed unless you're just calling it ultra ultra short segment. Now the question is, uh, Kristen, did you do that, uh, when the, the, would, I guess at that question, you have pathology there at your institution. Yes, and then I also, I also sent it out to um Laurie Children's in Chicago. So you did a, uh, you did a laparoscopic biopsy just above, just at the low before the peritoneal reflection. And that's the one that came back as normal. Am I right? Including the including the transanal biopsies at 56, and 7 centimeters from the dentate line. So I did additional intrarectal biopsies, and they're all normal transanally. Those are all normal. And then did you Repeat like even lower down that 31 again or no? Well, that I'm getting to that. What I eventually ended up doing was I did a strip myomectomy and I spent a 22 centimeter width by 6 centimeter length of posterior, uh, submucosa to the pathologist so they could look at the continuity of ganglion cells from the dentate line up. And I figured that would be diagnostic as well as therapeutic, basically doing a myomectomy for short ultra short segment Hirsch. So how, so how, so what, so how did things end up going? What ended up happening? There were no ganglion cells from the verge to 2 centimeters. There were sparse ganglion cells from 2 to 4 centimeters. There was normal ganglion cells from 4 to 6. There was hypertrophied nerve bundles throughout the entire specimen, including 6 centimeters. The Cretin was the only, was only abnormal at the distal 2 centimeters. Um, after the myomectomy and his recovery, he was able to stool spontaneously. Um, Additionally, uh, I had to end up, uh, putting a Foley catheter in to decompress his bladder, um, and ultimately started intermittent catheterizations, uh, in, in discussions with the urology colleagues, they came up with this Hinman-Allen syndrome, which I had never heard of. And apparently it's a voluntary, um, well, they call it a non-neurogenic neurogenic bladder, and it is 20, it's very prevalent in trisomy 21 kids at this age, and it's a result of voluntary contraction of the pelvic floor muscles where they have both constipation and urinary retention to the point where the bladder becomes. Neurogenic and and it's basically a learned behavior and you overcome it with intermittent catheterizations and um if you can change their behavior, you can salvage the the the kidneys, etc. He fortunately hadn't gotten to the point where he was having significant nephron loss, but. I just thought it was interesting. It's very easy to go down the garden path of, oh, this is just Hirstrung and do what I would consider a big procedure and maybe end up with not the same result. So just to wrap it up, I am curious, just some final thoughts on everyone on, on this case. It's a tough case. Yeah, I, I'm just, it would have been interesting, not that we do it very often, to do intellectum monometry. 16 year old, you'll get better results than you would for, yeah. That would have actually maybe in this case determined that this kid is not physiologically got Hirsprung's disease and would have. Would have allowed you to look with suspicion at the pathology results. The problem was that he was very combative and noncompliant, so it was sort of a rock and a hard place situation. Yeah, I think he, I think he had Hirschsprung's disease and I think he would have done well with a, with a Hirschprung's operation. My experience with, uh, this myectomy for these short segment Hirschsprung's patients is that they, they often don't have, um, long term success. Um, they, they end up with a lot more obstructive symptoms and also because you've done a myectomy, usually involving the sphincter, I think they have a higher risk of, of soiling. So, I, I stick with my original plan. I think I, I think he would have done well with the Duhamel. He may do well with what you've done as well. So, um, but, you know, give it, let us know in 10 years. Yeah. Yeah, it's hard for me because I've stopped doing because of your work. So I don't do thyroid function was normal. All, yeah, all of the, all of the other things were normal. Yeah, great case. Thank you, Kristen. Thank you very much. Appreciate it. So, um, we're gonna try, uh, Doctor Figueroa, are you on the line?

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