Not true regarding Hirschsprung disease is –
**Core Concept**
Hirschsprung disease is a congenital condition characterized by the absence of ganglion cells in the distal colon and rectum, leading to functional obstruction. This results from a failure of neural crest cells to migrate during embryonic development, affecting the enteric nervous system.
**Why the Correct Answer is Right**
The correct answer is related to the pathophysiology of Hirschsprung disease, which involves the absence of ganglion cells in the affected segments of the colon. This leads to an accumulation of stool and gas proximal to the obstruction, causing symptoms such as constipation, abdominal distension, and failure to pass meconium in the first 48 hours after birth. The absence of ganglion cells also results in an increase in the number of submucosal and myenteric plexus nerve fibers, as the body attempts to compensate for the lack of enteric nervous system cells.
**Why Each Wrong Option is Incorrect**
* **Option A:** This option is incorrect because Hirschsprung disease is indeed characterized by the absence of ganglion cells in the affected segments of the colon. The absence of these cells leads to a functional obstruction, resulting in the symptoms associated with the disease.
* **Option B:** This option is incorrect because the absence of ganglion cells is a hallmark of Hirschsprung disease, and this absence leads to an accumulation of stool and gas proximal to the obstruction.
* **Option C:** This option is incorrect because the disease is not caused by an overproduction of acetylcholine, but rather by the absence of ganglion cells that would normally regulate the release of this neurotransmitter.
* **Option D:** This option is incorrect because the disease is not caused by an increase in the number of submucosal and myenteric plexus nerve fibers, but rather by the absence of ganglion cells that would normally regulate the enteric nervous system.
**Clinical Pearl / High-Yield Fact**
A key aspect of Hirschsprung disease is the absence of ganglion cells in the affected segments of the colon. This absence can be diagnosed through a rectal biopsy, which shows the characteristic absence of ganglion cells and an increase in the number of submucosal and myenteric plexus nerve fibers.
**Correct Answer:**