Hirschsprung's disease

  • 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

Hirschsprung's disease

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

Hirschsprung's disease

  • 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.
 
 

Last updated: 05 January 2008

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