Question

"Patient: 2 week-old new-born male

Chief complaint: The patient's parents are concerned with the infant's poor appetite, distended abdomen and infrequent bowel movements.
Background: None
Current Findings: Abdominal radiograph shows a dilated distal colon. Rectal suction biopsy confirms the absence of ganglion cells in the wall of the intestine.

This patient's condition is frequently associated with another pathology, and the parents should be informed that their infant may also suffer from:
a. Blindness
b. Hearing loss
c. Anosmia"

Answer 1

The absence of ganglion cells suggesting Hirschsprung's disease is not directly associated with blindness, hearing loss, or anosmia. Parents should be informed of potential associated conditions, but the ones listed are not typical comorbidities.

Step-by-step explanation:

The absence of ganglion cells in the intestinal wall of a two-week-old newborn, as described in the Abdominal radiograph and confirmed by a rectal suction biopsy, is indicative of Hirschsprung's disease. This condition occurs due to a failure of neural crest cells to migrate completely during intestinal development, resulting in a segment of the colon that lacks the nerve cells required to promote peristalsis, thereby causing bowel obstruction and symptoms such as a distended abdomen and infrequent bowel movements.

Hirschsprung's disease is commonly associated with other developmental disorders due to the involvement of neural crest cell migration during development. Therefore, it is not typically associated with blindness, hearing loss, or anosmia. Parents of a child diagnosed with Hirschsprung's disease should be aware of the potential for associated conditions but not necessarily the ones listed in the options given.