Hirschsprug Disease (aka Congential Aganglionic Megacolon)

Question 1

What is hirschsprung disease?

Answer 1

Hirschsprung disease mechanical obstruction from inadequate motility of the intestine.

Hirschsprung is a genetic birth defect. It is usually an isolated defect but can be associated with Downs syndrome.

((Hirschsprung disease is also called congenital aganglionic megacolon because it results in an absence of ganglionic cells in the affected area of the colon.))

Question 2

What is the leading cause of death in children with hirschsprung disease?

Answer 2

Enterocolitis (inflammation of the small intestine) is the leading cause of death in children with hirschsprung disease.

Question 3

s/s of hirschsprung disease (think about its patho)…

Answer 3

-lack of enteric nervous system stimulation
-decrease in internal sphincter ability to relax
-contraction of the bowel and lack of peristalsis
-intestinal distention and ischemia due to distention of the bowel wall
-failure to thrive
-bilious vomiting
-explosive watery diarrhea (nasty!)
-constipation and lack of gas; failure to pass meconium (newborn’s first poop) within 48 hours of being born!!
-passage of ribbon-like foul-smelling stools!!

Question 4

How would a doc likely confirm the diagnosis of hirschsprung disease?

Answer 4

a rectal biopsy

Question 5

Treatment options for hirschsprung disease…

Answer 5

Surgery likely!
-Soave Procedure: “pull-through surgery” where the diseased portion of the intestine is removed and healthy portions are ‘pulled-through- to the anus
-depending on extent of disease, patient may require a temporary colostomy

Question 6

Post-operative management of a patient being treated for hirschsprung disease…

Answer 6

-NG tube to LIWS
-TPN
-colostomy/ileostomy teaching (if relevant)