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Hirschsprung disease is a congenital disorder characterized by the absence of enteric ganglion cells in segments of the large intestine, resulting in impaired intestinal motility and functional bowel obstruction.
It most commonly presents in the neonatal period with delayed passage of meconium beyond 48 hours after birth. Additional clinical features include abdominal distension, bilious vomiting, feeding intolerance, and severe constipation.
A milder form, short-segment Hirschsprung disease, involves a limited distal portion of the colon—typically the rectosigmoid region—and may escape detection in infancy. In such cases, patients can present later in childhood or adulthood with chronic, refractory constipation. Diagnosis is confirmed by rectal wall biopsy demonstrating aganglionosis, often supported by anorectal manometry findings.
Definitive treatment is surgical and consists of resection of the aganglionic segment with pull-through reconstruction to restore bowel function.