Review Question - QID 106448

This neonate is presenting with signs and symptoms of Hirschsprung's disease, which is caused by a failure of neural crest cell migration to the colon and rectum.

Hirschsrprung's disease is characterized by abdominal distension, bilious vomiting, and failure to pass meconium stool. These are all secondary to colonic aperistalsis as a result of a lack of ganglion cells in Meissner's submucosal plexus and Auerbach's myenteric plexus of the rectum and colon. An abdominal radiograph of a child with Hirschsprung's will reveal dilated loops of small and large bowel. Treatment of Hirschsrpung's disease is surgical correction of the portions of the colon which are aganglionic.

Figure A is an abdominal radiograph of a child with Hirschsprung's disease revealing dilated loops of small and large bowel.

Incorrect Answers:
Answer 1: Maternal diabetes can cause numerous developmental problems, including caudal regresion syndrome with imperforate anus. However, exam revealed a perforate anus in this case with no stool in the vault.
Answer 2: Mutation of the CFTR gene leads to cystic fibrosis, which can cause meconium ileus, but this infant is not manifesting any other symptoms of the disease.
Answer 3: Duodenal atresia is caused by failure of the intestinal lumen to canalize. Duodenal atresia would cause bilious vomiting, but the large and small bowel would not be dilated.
Answer 4: Congenital hypertrophy of the pyloric sphincter will cause vomiting, but the vomitus would not be bilious and bowel would not be dilated on radiograph as seen in figure A.