Total Colonic Aganglionosis in Siblings

Hirschsprung’s disease (HD) is attributed to failure of craniocaudal neural crest cell migration in the hindgut. Histopathology is absent of ganglion cells in the myenteric and submucosal plexuses. Most patients present with intestinal obstruction, in which delayed meconium passage is the most important history when suspecting HD. In eighty percent of cases, the pathology is limited limited to rectosigmoid region. Herein, we report two siblings from a Thai family, who presented total colonic aganglionosis and near total intestinal aganglionosis. With the advent of molecular technology, at least six mutation genes have been identified. It has been observed that longer the involved intestinal segment, the higher the penetrance rate and the lower the gender bias. Therefore, careful genetic counseling is important, particularly in a family that has a baby with long-segment HD. Chiang Mai Med Bull 2003;42(4):169-175.