Hirschsprung’s Disease (3)

Question 1

What is the function of the myenteric plexus of the gut?

What occurs in this disease?
→ What is it called if it affects the entire colon?

What’s the effect of this?

What is an associated condition that occurs in 20% of neonates with this?
→ How does it present?
→ Why is it life-threatening?

Answer 1

➊ Peristalsis of the bowel

➋ Congenital absence of parasympathetic ganglion cells of the myenteric plexus in the distal bowel and rectum
→ Total Colonic Aganglionosis

➌ The aganglionic section of bowel doesn’t relax, therefore stays constricted → Bowel obstruction

➍ Hirschsprung-Associated Enterocolitis (HAEC)
→ 2-4 wks after birth with fever, distension, bloody diarrhoea, and features of sepsis
→ Can lead to Toxic megacolon

Question 2

What is its main risk factor?

What are some of its associated conditions?

Answer 2

➊ Family hx

➋ • Downs syndrome
• Neurofibromatosis
• MEN Type II

Question 3

How does it present?

Answer 3

• Delay in passing meconium (> 48 hrs)
• Abdominal pain and distension
• Vomiting
• Chronic constipation from birth – Poor response to movicol disimpaction regimes
• Poor weight gain and Failure to thrive

Question 4

Which investigations should be done?

How is it managed?

Answer 4

➊ • XR
• Rectal biopsy and histology

➋ Surgical resection of aganglionic bowel