Hirschsprung disease is associated with a defect in which of the following developmental processes involving the enteric nervous system?

Appeared in: BTSC Staff Nurse 1 August-2025

Explanation

Hirschsprung disease is a congenital disorder characterized by the absence of ganglion cells in the distal colon.
This absence is due to the failure of neural crest cells to complete their migration along the gut during embryonic development.
This process is often regulated by the RET gene; mutations in this gene are a major cause of the disease.
The lack of ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses prevents peristalsis, leading to functional obstruction and proximal megacolon.

Option B: The primary defect in Hirschsprung disease is a lack of nerve cells (aganglionosis), not an overgrowth of muscle cells. The muscle tissue is structurally normal but cannot function without proper innervation.
Option C: Hirschsprung disease is a congenital developmental defect present from birth. It is not caused by an autoimmune process where the body's immune system attacks its own neurons.
Option D: This describes intussusception, a condition where one segment of the intestine telescopes into another. This is a mechanical obstruction, whereas Hirschsprung disease causes a functional obstruction.

Clinical Relevance

Nursing practice connection: Knowing Pathophysiology of Hirschsprung Disease helps nurses interpret findings accurately and avoid errors in routine assessment, medication administration, and patient teaching.
Nurses must monitor newborns for failure to pass meconium within the first 24-48 hours, a classic sign of Hirschsprung disease.
Other key signs requiring prompt reporting include abdominal distension, bilious vomiting, and feeding intolerance.
Post-operatively, after surgical resection of the aganglionic segment, nursing care focuses on stoma care (if applicable), monitoring for signs of enterocolitis (fever, diarrhea, distension), and supporting long-term bowel function.

How to Approach the Question

First, identify the core of the question: it asks for the specific developmental cause of Hirschsprung disease.
Recall or deduce that Hirschsprung disease is a congenital problem related to the nerves of the gut.
Evaluate each option based on this understanding. Option A describes a failure in the development of nerve cells (neural crest cells), which fits the known pathology.
Analyze the other options: Option B is about muscle, Option C is about an autoimmune process (acquired, not congenital), and Option D describes a different condition (intussusception).
Conclude that the failure of neural crest cell migration is the correct underlying developmental defect.

Concept Tested & Keywords

Concept Tested: Pathophysiology of Hirschsprung Disease
Stem keywords: Hirschsprung disease, defect, developmental processes, enteric nervous system
Lead-in keywords: associated with
Negative lead-in flag: false

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E6 Pathology- ROBBINS & COTRAN PATHOLOGIC BASIS OF DISEASE 10TH Ed p. 757-759

E6 Nelson Textbook of Pediatrics(2024) — Volume 2 p. 76-78

E6 Pathology-Textbook of PATHOLOGYHarsh Mohan Part 3 (515-969) p. 62-64

Practise the full BTSC Staff Nurse 1 August-2025

Attempt every question from this paper in a timed mock, then review the full solution for each one.