Case history
Case history #1
A 2-day old full-term infant is admitted to the neonatal intensive care unit with bilious vomiting and abdominal distension. He has not yet passed meconium. Upon rectal exam, there is explosive output of stool and gas.
Case history #2
A 3-year-old boy is brought to the pediatrician by his parents with a chief complaint of chronic constipation. They state that he has struggled with constipation for as long as they can remember. They have tried various laxatives without success. On exam, his abdomen is distended and he is underweight.
Other presentations
Children may also present with signs and symptoms of Hirschsprung-associated enterocolitis (HAEC) which include abdominal distention, tenderness, fever, lethargy, and diarrhea.[3] Severe HAEC can result in life-threatening sepsis and should be treated expeditiously as it is the leading cause of death in Hirschsprung disease.[11][12][13] A small percentage of patients present with neonatal bowel perforation due to distal obstruction. Cecal or appendiceal perforation in an otherwise healthy neonate should prompt workup for Hirschsprung disease.[14][15]
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