- Due to absence of autonomic ganglion cells in Auerbach's plexus of distal large intestine
- Commences at internal sphincter and progresses for variable distance proximally
- Affects 1 in 5000 live births
- Male : female ratio 4:1
- Some appear to be due to autosomal dominant inheritance
- 75% cases confined to recto-sigmoid
- 10% cases have total colonic involvement
Clinical features
- 80% present in neonatal period with delayed passage of meconium
- Followed by increasing abdominal distension and vomiting
Picture provided by Dr A Ruben FRACP FAFPHM, Consultant Paediatrician, Fiji School of
Medicine, Suva
- Accounts for 10% of neonatal intestinal obstruction
- Child is at increased risk of enterocolitis and perforation
- Occasionally presents with chronic constipation in infancy
Diagnosis
- Plain abdominal x-ray will confirm intestinal obstruction
- Barium enema - Contracted rectum, cone shaped transitional zone and proximal dilatation
- Anorectal manometry - No recto-sphincteric inhibition reflex on rectal distension
- Rectal biopsy shows:
- Absent ganglion cells in submucosa
- Increased acetylcholinesterase cells in muscularis mucosa
- Increased unmyelinated nerves in bowel wall
Treatment
- Initial defunctioning stoma to relieve obstruction
- Bypass of affected segment - Duhamal or Soave bypass
- Excision of aganglionic segment - Swenson procedure
Bibliography
Harjai M M. Hirschsprung's disease:
revisited. J Postgrad Med 2000;
46: 52-54.
Staiano A, Tozzi A.
Diagnosis and treatment of constipation in children. Curr
Opin Pediatr 1998; 10: 512-515.
Stockmann P T, Phiippart A I.
The Duhamal procedure for Hirschsprung's disease. Semin
Pediatr Surg 1998; 7: 89-95. |