Colorectal Quiz Episode 3: Hirschsprung Disease
With Dr. Dr. Frischer & Dr. Dr. Levitt · Colorectal Channel
Educational content from recorded physician discussions — not medical advice. Talk to your (or your child's) care team about your situation.
Podcast
Hirschsprung Disease â PediaCast 287
Marc Levitt · 38 min · Published May 2014
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44 min · Published Nov 2018
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Contrast Enema for Hirschsprung Disease
11 min · Published Feb 2015
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Hirschsprung Disease: Radiology Aspect
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What the experts said
Maternal magnesium sulfate used to slow delivery can cause neonatal abdominal distention that mimics Hirschsprung disease
Maternal opiates can cause neonatal abdominal distention mimicking Hirschsprung disease
Hypothyroidism can present with neonatal abdominal distention similar to Hirschsprung disease
Small left colon syndrome associated with maternal diabetes can mimic Hirschsprung disease
Contrast enema should not be performed in the presence of enterocolitis due to risk of perforation
Rectal irrigations before contrast enema do not change the result of the contrast study
The contrast study serves as a roadmap for surgery rather than a definitive diagnostic tool for Hirschsprung disease
In Hirschsprung disease, the aganglionic rectum appears narrow due to spasm and inability to relax, while the ganglionated proximal bowel is dilated, creating the recto-sigmoid ratio
Hyperperistalsis and tortuosity in the rectum on contrast enema is a classic finding in Hirschsprung disease, reflecting hypercontractility of the aganglionic segment
The exact location of the transition zone cannot be precisely determined on contrast study
Suction rectal biopsy is appropriate for neonates and does not require open biopsy in the operating room
Three good biopsy specimens should be obtained for pathologic evaluation
Quick diff staining highlights ganglion cells better than standard H&E staining
The diagnostic criteria for Hirschsprung disease at the Washington institution is absence of ganglion cells in 100 pathologic levels
If a single ganglion cell is found on biopsy, the diagnosis is not Hirschsprung disease regardless of ganglion cell density
Nerve trunk hypertrophy is defined as nerve trunks greater than 40 microns in diameter
Pathologists should measure nerve trunks in rectal biopsies to confirm hypertrophy
A pathology report showing no ganglion cells without comment on nerve hypertrophy is not satisfactory for surgical decision-making
Patients have been incorrectly operated on for Hirschsprung disease based on pathology reports showing no ganglion cells but lacking nerve hypertrophy documentation
Everyone is physiologically aganglionic in the zone of the anal canal
Hypertrophic nerves are not found in the anal canal zone, so absence of ganglion cells there without nerve hypertrophy does not indicate Hirschsprung disease
Presence of squamous epithelium in a rectal biopsy confirms the biopsy was taken too low (in the anal canal)
The optimal location for rectal biopsy is 0.5 to 1 cm above the crypts to ensure columnar epithelium
The crypts are located above the dentate line, so optimal biopsy location is at least 1-2 cm above the dentate line
Infants presenting with Hirschsprung-like symptoms who have ganglion cells but numerous eosinophils on biopsy may have allergic colitis