Hirschsprung's disease

Question 1

What is Hirschsprung’s disease

Answer 1

Congenital condition where nerve cells of the myeteric plexus are absent in the distal bowel and rectum

Question 2

What is the total colonic aganglionosis

Answer 2

When the entire colon is affected so there is no nervous innervation

Question 3

Associations with Hirschsprung’s disease

Answer 3

Usually occurs in isolation, but has been associated with Down’s, neurofibromatosis, Waardenburg syndrome and MEN type 2

Question 4

Presentation of Hirschsprung’s disease

Answer 4

Acute intestinal obstruction after birth or more gradually developing symptoms. Delay in passing meconium, chronic constipation since birth, abdo pain and distension, vomiting, poor weight gain and failing to thrive

Question 5

What is Hirschsprungs associated enterocolitis

Answer 5

Inflammation and obstruction of the intestine occuring in around 20% of neonates with the disease.

Question 6

What does Hirschsprung’s associated enterocolitis present with

Answer 6

Within 2-4 weeks of birth with fever, abdo distension, diarrhoea, and features of sepsis

Question 7

What can Hirschsprungs associated colitis lead to

Answer 7

Toxic megacolon, perforation requiring Abx, fluid resus and decompression of the obstructed bowel

Question 8

Diagnosis of Hirschsprungs disease

Answer 8

Abdo XR for diagnosis and features, rectal biopsy to confirm

Question 9

Management of Hirschsprungs disease

Answer 9

Surgical removal of aganglionic section of bowel