pediatrics
Hirschsprung Disease
Symptoms and Signs of Hirschsprung Disease
Patients most commonly present early in life, but some do not present until childhood or even adulthood. Normally, almost all neonates pass meconium in the first 24 hours of life. Approximately 50 to 90% of neonates with Hirschsprung disease fail to pass meconium in the first 48 hours of life. Infants present with obstipation, abdominal distention, and, finally, vomiting as in other forms of distal bowel obstruction. Occasionally, infants with ultrashort segment aganglionosis have only mild or intermittent constipation, often with intervening bouts of mild diarrhea, resulting in delay in diagnosis. In older infants and children, symptoms and signs may include anorexia, constipation, lack of a physiologic urge to defecate, and, on digital rectal examination, an empty rectum with stool palpable higher up in the colon and an explosive passage of stool upon withdrawal of the examining finger (blast sign). Infants may also fail to thrive. Less commonly, infants may present with Hirschsprung Enterocolitis (Toxic Megacolon) . 