Neuronal intestinal dysplasia--clinical and histochemical findings and its association with Hirschsprung's disease.

Neuronal intestinal dysplasia (NID) is a disturbance of the innervation of the gut. Its symptoms resemble the ones seen in Hirschsprung's Disease. Contrary to aganglionosis, however, there is hyperplasia of the ganglia. Our study revealed isolated NID (4/49 cases) to be eight times rarer than aganglionosis (33/49 patients). Combination of both diseases has been reported to occur in 20% of NID cases; we did however find it in 75% (12/16) of our patients. NID was located proximal to the aganglionic segment and reached the stomach in 1 case. Combination of both diseases resulted in superposition of symptoms, thus rendering impossible to differentiate between NID group A (with hypoplasia of sympathetic innervation and acute early onset) and group B (with normal sympathetic innervation and chronic, late onset) on clinical grounds only. Major malformations were present in 5/16 patients with NID; 2 of them had trisomy 21.