Tricks - Ultrashort Segment Hirschsprungs - Kristine Thayer

Suction rectal biopsy adequacy in any age patient requires: adequate submucosa depth, correct level (normal rectal mucosa not transitional epithelium), assessment beyond ganglion cell presence/absence including nerve hypertrophy, cholinesterase staining, and calretinin staining.

In very short segment Hirschsprung's, hypertrophy of the nerves may not be present.

Calretinin staining has become important in Hirschsprung's diagnosis in the last few years.

Gold standard for Hirschsprung's diagnosis in infants is suction rectal biopsy; if inadequate specimen obtained, advance to open trans-anal rectal biopsy.

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In newly diagnosed Hirschsprung's in 16-year-olds, the colon is almost always very dilated, and the speaker's usual approach is to perform a stoma first, allow 6 months for colonic decompression, then perform a Duhamel procedure.

Pulling a dilated rectum through the anus using trans-anal technique requires too much stretching of the sphincter, which should be avoided.

In older adolescents with Hirschsprung's, the speaker's experience has mainly been to use a Duhamel technique with an initial stoma.

In a 16-year-old with Hirschsprung's, even if the colon is not very dilated, a Duhamel approach may still be preferred because the rectum will be very thick and pulling it through the anus would require too much sphincter stretching.

Botox injection is a good treatment for obstructive symptoms after a Hirschsprung's pull-through when the sphincter is not relaxing normally, but is not appropriate as primary treatment for established Hirschsprung's disease.

Botox injection before surgical intervention in a diagnostically unclear case could help determine if significant improvement occurs, which would support proceeding with major surgical intervention.

If a biopsy at 3 cm in a 16-year-old shows all the findings of Hirschsprung's disease (absent ganglion cells, hypertrophied nerves, abnormal calretinin), and higher biopsies are normal, the patient still has Hirschsprung's disease with a short aganglionic segment, and a pull-through would be appropriate.

If you took an average 16-year-old and did a biopsy at 3 cm, you would find normal ganglion cells, not the findings seen in this case.

In straightforward cases with a positive suction rectal biopsy showing all findings of Hirschsprung's, the speaker does not routinely repeat the low biopsy in the operating room (only biopsies to find the level).

Strip myomectomy pathology showed: no ganglion cells from 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 6 cm specimen, and abnormal calretinin only in the distal 2 cm.

The speaker believes the patient had Hirschsprung's disease and would have done well with a Duhamel operation, though may also do well with the myomectomy that was performed.

The speaker's experience with myomectomy for short-segment Hirschsprung's patients is that they often do not have long-term success, ending up with more obstructive symptoms and higher risk of soiling because the myomectomy usually involves the sphincter.