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Patient case: Hirschsprung’s disease

Discussion

A 3-month-old male infant presents with a history of chronic constipation and abdominal distension. The mother reports that the baby has had difficulty passing stools since birth and often strains without success. She notes that the baby passed meconium over 48 hours after delivery. Over time, the baby’s abdomen has become more bloated, and he has episodes of vomiting after feeding. His growth has been below average for his age, and he is frequently irritable.

On examination, the infant has a distended abdomen with visible peristaltic waves. A rectal exam reveals an empty rectum, and after withdrawal of the finger, a rush of stool and gas is expelled. The infant is diagnosed with Hirschsprung’s disease, confirmed by a rectal biopsy showing the absence of ganglion cells in the affected segment of the colon.

The treatment plan includes surgical intervention to remove the aganglionic segment and restore normal bowel function.

Questions
1. What was the first sign of a problem in the infant's history? 

A) Frequent vomiting

B) Delayed passage of meconium

C) Visible peristaltic waves

D) Abdominal distension

2. What is the most likely diagnosis for the infant based on his symptoms?

A) Intestinal malrotation

B) Pyloric stenosis

C) Hirschsprung's disease

D) Celiac disease

3. Which test confirmed the diagnosis of the condition?

A) Abdominal ultrasound

B) Colonoscopy

C) Rectal biopsy

D) Barium enema

4. What is the primary treatment for this infant’s condition?

A) Dietary modifications

B) Medication to soften stool

C) Surgical removal of the affected bowel segment

D) Antibiotics

Reveal answers

Answers

1. B

2. C

3. C

4. C

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