Adult Hirschsprung's disease
This slide always reminds me of the necessity of looking for clues in anybody presenting with irritable bowel symptoms that might suggest the presence of another underlying condition.
This patient was referred with constipation at the age of 18 years, with a history of having had an imperforate anus at birth, treated probably by a fenestration.
The subsequent barium enema confirmed an obvious megarectum. The diagnosis of adult Hirschsprung's was made, and confirmed by the absence of ganglion cells in a full thickness rectal biopsy. She went on to have a temporary ileostomy, and an attempt at a pouch procedure carried out at another hospital. This latter procedure was unsuccessful and she left with a permanent ileostomy.
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