Hirschsprung disease
Pronunciation: HIRSH-sproong
Congenital absence of enteric ganglia in a segment of colon, causing functional obstruction.
Full Definition
A congenital condition characterized by the absence of enteric ganglion cells (aganglionosis) in the myenteric and submucosal plexuses of a segment of the large intestine, resulting in functional obstruction. The aganglionic segment extends from the anal verge proximally for a variable distance, with rectosigmoid involvement being most common. Clinical presentation includes delayed passage of meconium, chronic constipation, and abdominal distension. Diagnosis is confirmed by rectal biopsy demonstrating absence of ganglion cells. Surgical treatment involves resection of the aganglionic segment with various pull-through procedures such as Soave, Duhamel, or Swenson techniques.
Usage
Usage note: Always capitalize 'Hirschsprung' as it is an eponym. Specify extent of aganglionosis when known.
In Context
- "The rectal biopsy confirmed Hirschsprung disease with absence of ganglion cells and hypertrophied nerve fibers." — pathology report
- "A single-stage transanal endorectal pull-through was performed for short-segment Hirschsprung disease." — operative note