Prevalence and Significance of Immature Ganglion Cell in Hirschsprung's Disease

Immature ganglion cell (IGC) is known for its relationship with intestinal motility and its impact on postoperative functional outcomes of Hirschsprung's disease (HD). There are few studies on the relationship between intestinal dysmotility and IGC in HD patients. 67 patients pathologically diagnosed with HD and who received definitive operation in Seoul National University Children's Hospital from 2010 to 2011 were included. 10 patients were excluded due to inadequate immunohistochemical staining results. The proximal end of resected ganglionic segment was evaluated with immunohistochemistry examination with MAP-2, a marker of ganglionic cells and bcl-2, a marker of IGCs The median age at operation was 155 (15-4678) day-old. 55 (96.5%) patients positive for bcl-2, were regarded as having IGC, and 2 (3.5%) patients positive for MAP-2 but negative for bcl-2, were regarded as having only mature ganglion cells. In the bcl-2 positive group, there were 7 patients (12.7%) with constipation, 15 patients (27.3%) with soiling, 3 patients (5.5%) with perianal excoriation and 6 patients (10.9%) with medication use. In bcl-2 negative group, intestinal dysmotility was not seen. There was no statistical significance in the two groups. Considering that HD is diagnosed at a young age, the rate of IGC present is very high and it might be inappropriate to relate IGC to functional outcome at young ages.

Pseudo-Hirschsprung's Disease Due to Total Intestinal Hypogenesis

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.