Hirschsprung disease

Question 1

What is Hirschsprung disease?

Answer 1

Congenital condition in which nerve cells of the myenteric plexus are absent in the distal bowel and rectum.

Question 2

Pathogenesis of hirschsprung disease?

Answer 2

• Absence of PARASYMPATHETIC ganglion cells → due to them not travelling all the way down the colon, a section at the end is left without them.
• ‘Aganglionic’ section of colon does not relax, causing it to become constricted.

Leads to loss of movement of faeces (uncoordinated peristalsis) and obstruction in the bowel.

Question 3

What conditions are associated with hirshsprung disease?

Answer 3

Associations → down’s syndrome

neurofibromatosis

MEN II.

Question 4

Clinical features of Hirshsprung disease?

Answer 4

• Meconium delay
• Constipation at birth
• Abdo pain and distention
• Bilious vomiting
• failure to thrive

Question 5

What can be seen on abdominal X ray? for Hirshsprung

Answer 5

The intestinal obstruction and Air fluid levels

Question 6

What is the gold standard diagnostic ix for hirchsprungs?

Answer 6

Rectal biopsy : histology with show absence of ganglionic cells in auerbach’s plexus

Question 7

How to manage hirshsprungs:

• intial mx?

Answer 7

Rectal wash out + bowel irrigation

Question 8

How to manage hirshsprungs:

• definitive mx?

Answer 8

Surgical removal of aganglionic section of bowel : anorectal pull through