Hirschsprung’s Disease

Background/Epidemiology

  • Incidence ~1:5000 live births/year; much more common in males (4:1); degree of genetic inheritability (increased risk if sibling is affected)
  • Characterised by the absence of ganglion cells in the distal bowel, usually beginning at the internal sphincter and extending proximally
  • It can be associated with chromosomal disorders e.g. Downs syndrome (1.5%) (Note, however that many more children with Downs syndrome have functional constipation)

Pathophysiology

  • The absence of sympathetic innervation of the gut causes a failure to relax and constant tonic contraction.  This causes functional obstruction.

Presentation

  • Usually within the first 28 days of life with delayed passage (>24 hours) of meconium; neonatal constipation and abdominal distension.
    • Poor growth may also be a feature
    • Around 12% present again in childhood with treatment refractory constipation, failure to thrive and occasionally enterocolitis
  • It is not uncommon for there to be a family history
  • Soiling is unusual

Investigations

  • Rectal suction biopsy is the gold standard (histology shows lack of ganglion cells)
  • AXR may show gaseous distension of the bowel
  • Other possible tests include anorectal manometry and barium enema although these are not usually performed in children and aren’t as specific

Management

  • Where there are signs of obstruction
    • Fluid resuscitation and NG suction
    • Bowel washouts may be useful
  • Where possible, surgical excision of the affected gut can be performed (will effectively cure the problem)
    • However, this depends on the extent of GI tract involved
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