A 4-day-old baby boy has not defecated since coming home from the hospital even though feeding has been normal without any excessive vomiting. Rectal examination reveals a normal anus, anal canal, and rectum. However, a large fecal mass is found in the colon, and a large release of flatus and feces follows the rectal examination. Which of the following conditions would be suspected?
1.Imperforate anus
2.Anal agenesis
3.Colonic agenesis
4.Rectal atresia
sol:
This baby boy suffers from colonic aganglionosis, or Hirschsprung disease, which results in the retention of fecal material, causing the normal colon to enlarge. The retention of fecal material results from a lack of peristalsis in the narrow segment of colon distal to the enlarged colon. A biopsy of the narrow segment of colon would reveal the absence of parasympathetic ganglion cells in the myenteric plexus caused by failure of neural crest migration.