From
Dr. Nelson G. Rosen
Diagnostic workup for Hirschsprung disease in newborns and children
With Dr. Nelson G. Rosen & Dr. Patty Kern · hosted by Dr. Rod Gerardo
Chapter 4 of 7
Older child diagnosis
Diagnosis in older children
Cued at 5:32 · press play
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Educational content from recorded physician discussions — not medical advice. Talk to your (or your child's) care team about your situation.
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What the experts said
Hirschsprung disease is a congenital condition that children are born with.
Hirschsprung disease usually affects the lowermost aspect of the intestine (the rectum or sigmoid).
In Hirschsprung disease, the system of nerves that allows the intestine to relax is missing in the rectum and lowest part of the colon.
In Hirschsprung disease, the rectum is always affected, and the question is how much proximal intestine is involved.
About 85% of Hirschsprung cases begin in the very end part of the sigmoid colon or beginning of the rectum.
In about 10% of Hirschsprung cases, the entire colon is affected.
90 to 95% of Hirschsprung cases are recognized in the newborn period.
The first sign of Hirschsprung disease in newborns is usually failure to pass stool within the first 24 to 48 hours.
After failure to pass meconium, newborns with Hirschsprung disease will develop bloating, failure to pass stool, and vomiting.
In the newborn period with concern for Hirschsprung disease, a contrast enema exam is performed in radiology.
On contrast enema, a sign of Hirschsprung disease is when the rectum (lowest segment) is narrower and then dilates above that level.
If there is real concern for Hirschsprung disease, a biopsy is done where a tiny piece of the back wall of the rectum is examined for nerves.
In older children, Hirschsprung disease can be missed.
Children with Hirschsprung disease very rarely thrive and develop normally.
In older children with low-risk history for Hirschsprung disease (fine for first couple years then constipation worsened), biopsy should usually be done after routine management measures are tried.
At some centers with experienced gastroenterologists, anorectal manometry can be performed to evaluate for Hirschsprung disease.
In anorectal manometry, the gastroenterologist uses a balloon catheter to measure pressures in the anus and rectum, looking for the recto-anal inhibitory reflex.
The normal recto-anal inhibitory reflex is when you blow a balloon up in the rectum and stretch it, the sphincter should relax.
Anorectal manometry is not very sensitive for Hirschsprung disease; a normal manometry does not completely rule out Hirschsprung disease.
Nobody would operate on manometry findings alone; if there is suggestive manometry, a biopsy will still be done.
A suction biopsy can be done at the bedside for children in the newborn phase and up to a year old.
After a year of age, the child should be taken to the OR for biopsy under anesthesia to go up higher in the rectum.
People without Hirschsprung disease have no ganglion cells in the very first part of the rectum.
The suction biopsy tool works in babies because you don't need much tissue depth to reach the level where you look for nerves.
In older children after a year of age, you cannot get enough tissue depth with a suction biopsy tool because their tissue is thicker.
Operative rectal biopsy in older children is a simple procedure that takes about 20 minutes and patients go home the same day.
The missing nerves in Hirschsprung disease are the ganglion cells in the submucosal and myenteric plexus.