Hirschsprung's disease

Question 1

What is Hirschsprung’s disease?

Answer 1

Inherited disorder causing aganglionic colon segment, usually the rectosigmoid region, which fails to relax leading to functional intestinal obstruction

Question 2

What are the clinical features of Hirschsprung’s disease?

Answer 2

Delayed passage of meconium
Abdominal distention and bilious vomiting
Tight anal sphincter
Failure to thrive/poor feeding
Chronic constipation

Question 3

How is Hirschsprung’s disease diagnosed?

Answer 3

(X-ray) Decreased or absent air in rectum
Dilated colon segment
Distal obstruction
(Rectal biopsy) Absence of ganglion cells

Question 4

What are the differential diagnosis?

Answer 4

Meconium ileus

Congenital hypothyroidism

Question 5

What is the treatment of Hirschsprung’s disease?

Answer 5

(Surgery) Dissection of affected colonic segment + anastomosis of normal segment to rectum