Hirschsprung disease
Pronunciation: HIRSH-sproong
A congenital disorder characterised by the absence of ganglion cells in the distal bowel wall (aganglionosis), causing functional obstruction.
Full Definition
Hirschsprung disease results from failure of neural crest cell migration during embryogenesis, leaving a segment of the distal colon (and occasionally more extensive bowel) devoid of myenteric and submucosal ganglion cells. The aganglionic segment remains in a state of tonic contraction, causing functional obstruction and proximal bowel dilatation (megacolon). Diagnosis is confirmed on rectal suction biopsy by the absence of ganglion cells and the presence of hypertrophied nerve trunks, often with acetylcholinesterase staining. Editors should note the disease is named with the possessive-free form 'Hirschsprung disease' (no apostrophe-s) in current medical style guides, including AMA style.
Usage
Usage note: Do not use the possessive form 'Hirschsprung's disease'; AMA and most current pathology style guides drop the possessive apostrophe-s from eponymous disease names.
In Context
- "The rectal biopsy demonstrated complete absence of ganglion cells with acetylcholinesterase-positive nerve fibres, consistent with Hirschsprung disease." — Histopathology report
- "Style note to authors: 'Hirschsprung's disease' with the possessive is now deprecated in AMA style; please use 'Hirschsprung disease' throughout." — Journal style guide note