Hirschsprung disease
Pronunciation: HIRSH-sproong dih-ZEEZ
Congenital condition where nerve cells are missing from part of the colon, causing severe constipation.
Full Definition
Hirschsprung disease, also known as congenital megacolon, is a developmental disorder characterized by the absence of enteric ganglion cells (aganglionosis) in a segment of the colon. This results in functional obstruction, as the affected bowel segment cannot relax normally. Most cases present in the newborn period with failure to pass meconium, abdominal distension, and vomiting. The rectosigmoid region is most commonly affected, though the aganglionic segment can extend more proximally. Diagnosis is confirmed by rectal biopsy, and treatment requires surgical resection of the affected bowel.
Usage
Usage note: Named after Harald Hirschsprung; always capitalize the 'H' as it's an eponym.
In Context
- "The newborn's failure to pass meconium and abdominal distension raised suspicion for Hirschsprung disease." — Neonatal intensive care unit note
- "Rectal biopsy confirmed the absence of ganglion cells consistent with Hirschsprung disease." — Pathology report