Neonatal Nurse Practitioner Practice Exam

Hirschsprung's disease is primarily due to which of the following?

1. Abnormal gut motility

2. Enzyme deficiency

3. Ganglion cell deficiency

4. Inflammatory bowel disease

The correct answer is: Ganglion cell deficiency

Hirschsprung's disease is primarily due to ganglion cell deficiency, which pertains to the absence of ganglion cells in a segment of the colon. These ganglion cells, part of the enteric nervous system, are crucial for coordinating peristalsis in the intestines. When these cells are not present, typically due to a failure of neural crest cells to migrate properly during embryonic development, a section of the bowel cannot relax and, as a result, does not move fecal material effectively. This leads to significant bowel obstruction and constipation in affected infants. Understanding the pathophysiology of Hirschsprung's disease emphasizes the critical role of enteric ganglia in gut motility. While abnormal gut motility might describe the symptoms experienced by patients, it is the lack of ganglion cells that is the underlying cause. Enzyme deficiency and inflammatory bowel disease do not relate to the etiology of Hirschsprung's disease. Thus, emphasizing the correct choice reinforces the understanding of the condition's foundational pathophysiology.