Hirschsprung disease
Pronunciation: HERSH-sproong
A congenital condition where nerve cells are missing from parts of the intestine, causing severe constipation or bowel obstruction in newborns and infants.
Full Definition
Hirschsprung disease, also known as congenital aganglionic megacolon, is a birth defect affecting the large intestine where nerve cells (ganglion cells) are absent from a segment of the bowel. This absence prevents normal muscle contractions needed to move stool through the intestine, leading to severe constipation, bowel obstruction, and potentially life-threatening complications. The condition typically presents in the newborn period with failure to pass meconium within 48 hours of birth, though milder cases may not be diagnosed until later in childhood.
Usage
Usage note: Always capitalize the 'H' as it is named after Danish pediatrician Harald Hirschsprung.
In Context
- "The infant was referred to pediatric surgery for suspected Hirschsprung disease after failing to pass meconium for 72 hours." — Medical record documentation
- "Genetic counseling was recommended as Hirschsprung disease can have familial clustering in some cases." — Clinical notes