Hirschsprung disease must be considered in any neonate with distal intestinal obstruction, or any older child with persistent severe constipation or enterocolitis.
Although the diagnosis can be suspected on the basis of history, physical examination, and radiology, the gold standard for diagnosis is an adequate rectal biopsy showing aganglionosis.
Most children can be treated with a one-stage pull-through procedure, although a stoma may still be appropriate for those with severe enterocolitis, malnutrition, massive colonic distention, inadequate pathology support, or long-segment disease.
The Swenson, Soave, and Duhamel procedures are all excellent, and the surgeon should do the operation that he/she is trained to do and does frequently. The laparoscopic and transanal approaches are associated with less pain, earlier feeding, and shorter hospital stay than the open procedures.
When doing a laparoscopic or transanal pull-through, a preliminary biopsy should be done to identify the pathological transition zone prior to beginning the anal dissection. This can be done laparoscopically or through an umbilical incision.
Many patients will have ongoing problems after a pull-through, including obstructive symptoms, incontinence, and enterocolitis. An organized approach to diagnosing and managing these complications is essential.
Patients with long-segment disease, trisomy 21, and other syndromes and anomalies are at higher risk for problems and complications.