diagnosis
Last reviewed 01/2018
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.