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Hirschsprung’s Disease

Discussion

A 3-day-old male neonate is brought to the neonatal unit with concerns of not passing meconium since birth. The mother reports that the baby has been feeding poorly and has developed abdominal distension. Over the past 24 hours, the infant has been increasingly irritable and had a few episodes of bilious vomiting.

On physical examination, the neonate’s abdomen is distended and tense. Rectal examination reveals an empty rectum, and after withdrawal of the finger, there is an explosive release of stool and gas. Further evaluation with a contrast enema shows a transition zone between the normal and narrowed, aganglionic segment of the distal colon.

A rectal biopsy is performed, confirming the absence of ganglion cells in the affected bowel segment, consistent with a diagnosis of Hirschsprung’s disease. The infant is scheduled for surgical resection of the aganglionic segment, followed by a pull-through procedure, with a good prognosis expected after surgery.

Questions
1. What is the most likely diagnosis for a neonate with failure to pass meconium, abdominal distension, and bilious vomiting?

a). Meconium ileus

b). Hirschsprung’s disease

c). Intussusception

d). Pyloric stenosis

2. Which of the following is a typical finding on rectal examination in a neonate with Hirschsprung’s disease?

a). Sausage-shaped mass in the abdomen

b). Blood-streaked stool

c). An empty rectum followed by an explosive release of stool and gas

d). Olive-shaped mass in the upper abdomen

3. What is the diagnostic procedure of choice to confirm Hirschsprung’s disease?

a). Abdominal ultrasound

b). Barium swallow

c). Rectal biopsy

d). Colonoscopy

4. What is the definitive treatment for Hirschsprung’s disease?

a). Nasogastric tube decompression

b). Antibiotic therapy

c). Surgical resection of the aganglionic bowel segment

d). Probiotic supplementation

Reveal answers

Answers

  1. b). Hirschsprung’s disease
  2. c). An empty rectum followed by an explosive release of stool and gas
  3. c). Rectal biopsy
  4. c). Surgical resection of the aganglionic bowel segment