Ultra-Short Segment Hirschsprung Disease: Difficult Cases

In a 16-year-old, a suction rectal biopsy is generally not considered adequate.

Adequate suction biopsy requires: sufficient submucosa depth, correct level (normal rectal mucosa, not transitional epithelium), assessment of nerve hypertrophy, cholinesterase staining, and calretinin staining.

In very short segment Hirschsprung disease, nerve hypertrophy may not be present.

Calretinin staining has become important in Hirschsprung diagnosis in recent years.

Trans-anal rectal biopsy at 3 cm showed hypertrophied nerve bundles and abnormal calretinin with lack of significant fiber staining in mucosa, confirming short segment Hirschsprung disease.

In Jack's experience, 16-year-olds with new Hirschsprung diagnosis almost always have very dilated colons.

Jack's approach for older children with Hirschsprung disease: initial stoma for approximately 6 months to decompress colon, followed by Duhamel procedure.

Pulling dilated rectum through anus using trans-anal technique requires excessive sphincter stretching, which should be avoided.

In a 16-year-old with thick rectum, attempting trans-anal pull-through would require excessive sphincter stretching.

Botox is a good treatment for obstructive symptoms after pull-through due to sphincter not relaxing normally, but not for primary treatment of established Hirschsprung disease.

All higher biopsies (trans-anal at 5, 6, 7 cm and laparoscopic biopsies at peritoneal reflection, rectosigmoid, sigmoid, and descending colon) showed normal calretinin and no hypertrophied submucosa.

Patient had nearly 2-liter neurogenic bladder with overflow incontinence.

If an average 16-year-old underwent biopsy at 3 cm, normal ganglion cells would be found.

Strip myomectomy specimen (22 cm width × 6 cm length of posterior submucosa) showed: no ganglion cells from verge to 2 cm, sparse ganglion cells 2–4 cm, normal ganglion cells 4–6 cm, hypertrophied nerve bundles throughout entire specimen including at 6 cm, and abnormal calretinin only at distal 2 cm.

After myomectomy, patient was able to stool spontaneously.

Anorectal manometry in a 16-year-old would yield better results than in younger children and could have determined whether the patient physiologically had Hirschsprung disease.

Jack believes the patient had Hirschsprung disease and would have done well with a Hirschsprung operation.

In Jack's experience, myomectomy for short segment Hirschsprung patients often does not have long-term success, with patients developing more obstructive symptoms and higher risk of soiling due to sphincter involvement.