Hirschsprungs disease

Question 1

what is it?

Answer 1

aganglionic segment of bowel due to a developmental failure of the parasympathetic Auerbach and Meissner plexuses.

Question 2

what is it an important differential of?

Answer 2

childhood constipation

Question 3

what is the pathophysiology?

Answer 3

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

Question 4

condition it is associated with

Answer 4

downs syndrome

Question 5

males or females?

Answer 5

males

Question 6

presentations

Answer 6

neonatal period e.g. failure or delay to pass meconium
older children: constipation, abdominal distension

Question 7

Ix

Answer 7

AXR

GOLD STANDARD - rectal biopsy

Question 8

Mx

Answer 8

initially: rectal washouts/bowel irrigation

definitive management: surgery to affected segment of the colon

Question 8

Mx

Answer 8

initially: rectal washouts/bowel irrigation

definitive management: surgery to affected segment of the colon