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The diagnosis can be suspected on the basis of the clinical findings, and is firmly established by:

  • rectal biopsy, which is usually obtained under anaesthesic as a punch or suction biopsy. A positive biopsy will document the absence of ganglion cells; this can be confirmed by staining for acetylcholinesterase
  • anorectal manometry: rectal distention demonstrates an absence of the normal rectoanal inhibitory reflex
  • barium enema: shows an undilated rectum, a narrow transitional zone, and a very dilated proximal bowel.

Last reviewed 01/2018