Hirschprung's

Question 1

What is Hirschsprung’s disease?

Answer 1

Hirschsprung’s disease is caused by an aganglionic segment of bowel due to a developmental failure of the parasympathetic Auerbach and Meissner plexuses.

=> the resulting aganglionic colon is shrunken and unable to distend properly

=> this causes a back pressure of stool trapped in the proximal colon

=> results in functional GI obstruction

Although rare (1 in 5,000 births) it is an important differential diagnosis in childhood chronic constipation.

Question 2

What is the pathophysiology of Hirchsprung’s disease?

Who does it affect?

Which other condition is associated with Hirchsprung’s disease?

Answer 2

1. Parasympathetic neuroblasts fail to migrate from the neural crest to the distal colon → developmental failure of the parasympathetic Auerbach and Meissner plexuses → uncoordinated peristalsis → functional obstruction
2. Boys > Girls [3:1]
3. Hirchsprung’s disease is associated with Down’s syndrome

Question 3

How does Hirchsprung’s disease present?

Answer 3

1. Neonatal period: Delay in passing meconium (>48h)
2. Older children:
   => Distended abdomen

=> Chronic history of constipation with poor response to movicol disimpaction regiments and poor weight gain

=> Megacolon

3. Forceful evacuation of meconium / flatus after digital rectal exam
   => PR exam: tight anal sphincter

Question 4

How is Hirchsprung’s disease diagnosed?

Answer 4

History and examination (digital rectal exam) suspicious for Hirschsprung’s

=> confirmed with a rectal suction biopsy.

Question 5

How is hirschsprung’s managed?

Answer 5

Definitive management: surgery to remove aganglionic segment of colon ± colostomy