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A 3-year-old child presents to your office for an evaluation of constipation. The mother notes that since birth, and despite frequent use of stool softeners, the child has only about one stool per week. He does not have fecal soiling or diarrhea. He was born at term and without pregnancy complications. The child stayed an extra day in the hospital at birth because he did not stool for 48 hours, but has not been in the hospital since. Initial evaluation of this child should include which of the following?
A child psychiatry evaluation for stool retention and parenting assistance
A barium enema and rectal manometry
Plain films of the abdomen
Dietary log and observation
Beginning oral antispasmodic medication
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dietary log and observation
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A barium enema and rectal manometry
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The correct answer is b.; A barium enema and rectal manometry.
The diagnosis of Hirschsprung disease should be suspected in a child with intractable chronic constipation without fecal soiling (approximately 3% have fecal soiling). In contrast, overflow diarrhea caused by leakage of the unformed fecal stream around a rectal impaction is common in functional constipation. A neonatal history of delayed passage of meconium is often obtained, and the infant can continue to be constipated and to have bouts of abdominal distention and vomiting.
The infant is also at risk of developing enterocolitis, a life-threatening consequence of the partial obstruction. Radiologic study by barium enema and rectal manometry are accurate diagnostic tools. Identification of an aganglionic segment of bowel by punch or suction biopsy can establish the diagnosis. Histochemical tissue examination showing increased amounts of acetylcholinesterase and an absence of ganglia cells is confirmatory.
Rectal manometric studies have shown that in aganglionic megacolon, the usual relaxation of the internal rectal sphincter in response to balloon inflation does not occur. Surgery is indicated as soon as the diagnosis is made. Antispasmodic agents and dietary changes are not helpful, and a plain film of the abdomen would not confirm the diagnosis.
