Pseudo-Hirschsprung's Disease Due to Total Intestinal Hypogenesis

ABSTRACT

Intestinal hypogenesis is a rare cause of functional intestinal obstruction and shows both diminished numbers of ganglion cells and immature ganglion cells. We report a case of intestinal hypogenesis extending from the rectum to the proximal jejunum. A male newborn was noted to have a neonatal intestinal obstruction, and a laparotomy at 4 days of age proved the existence of intestinal hypogenesis. Histologic examination showed immature ganglion cells (cell body, 6.0+/-0.037 micrometer; nucleus, 4.1+/-0.028 micrometer; nucleoli, 0 micrometer in diameter) and hypoganglionosis. At 46 days of age, a reoperation was done, and the intestinal hypogenesis was proved to extend from the proximal jejunum to the rectum. Maturation of the ganglion cells in the small bowel (cell body, 9.3+/-0.28 micrometer; nucleus, 6.3+/-0.61 micrometer; nucleoli, 1.2+/-0.04 micrometer in diameter) was observed compared to initial study. However, the infant had persistent functional intestinal obstruction and was continued on parenteral nutrition with the hope of further maturation of the ganglion cells and improvement of the intestinal motility. Unfortunately, he was discharged against advise at 72 days of age and died. The maturation of the ganglion cells in this case suggests that this entity should not deemed hopeless.