|
Hirschsprung disease is one of the most frequent malformations affecting the intestinal tract (1:5,000). It is due to a developmental anomaly of the enteric nervous system. It is characterized by the absence of ganglial cells that are responsible for the intrinsic innervation of muscle layers in the terminal part of the intestine. It leads to occlusion in the lower part of the intestine or severe contispation. Treatment is surgical. It consists in resecting the aganglionic segment. Most cases are sporadic but genetic factors play an important role. Several susceptibility genes have been identified up to now (RET, GDNF, EDNRB, EDN3, SOX10). |