One of the most important factors in the management of Hirschsprung's disease is early diagnosis and appropriate treatment to avoid complications of the disease. Following clinical suspicion a number of investigations may be of use in making a diagnosis which must always be confirmed by histological examination of intestinal tissue. Plain abdominal X-ray will often show dilated proximal intestinal loops (Figure 2.6) prompting a lower GI contrast study to be performed to exclude intestinal atresia/stenosis or meconium ileus. This may show a prompt transition from narrow distal aganglionic bowel to dilated proximal bowel. A contrast enema is not necessary for diagnosis in many cases of Hirschsprung's disease. In addition, this investigation may be misleading in its indication of the length of intestinal aganglionosis.

The gold standard for diagnosis is the suction rectal biopsy. Characteristic histological findings are absence of ganglion cells and increase in acetylcholinesterase (AChE) staining in the parasympathetic nerve fibers. In cases where suction rectal biopsy fails to provide adequate information, a full-thickness rectal biopsy should be considered.

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