Localization of intestinal pacemaker cells and synapses in the muscle layers of a patient with colonic hypoganglionosis.

Bowel dysmotility in association with hypoganglionosis remains unexplained. The proto-oncogene c-kit encodes a transmembrane tyrosine kinase receptor, and the c-kit protein-product (C-KIT) positive cells in the mammalian gut are responsible for intestinal pacemaker activity. The authors examined the localization of intestinal pacemaker cells in the muscle layers of a patient with colonic hypoganglionosis, using an antihuman C-KIT serum.

A lack of intestinal pacemaker (c-kit) in aganglionic bowel of patients with Hirschsprung's disease.

Recent experimental studies in mice have shown that the proto-oncogene c-kit plays a key role in the development of a component of the pacemaker system that is required for generation of autonomic gut motility. These studies further suggest that interaction of the c-kit receptor and its ligand (stem cell factor, SCF) is critical for the development of the enteric nervous system. The authors investigated the presence of c-kit-positive (c-kit+) cells as well as the expression of SCF in bowel from 12 patients with Hirschsprung's disease (HD), 4 patients with total colonic aganglionosis (TCA), 2 patients with extensive aganglionosis (EA) and 14 controls.

Quantitative analysis of neuronal innervation in the aganglionic bowel of patients with Hirschsprung's disease.

Although there is marked proliferation of nerve fibers in the aganglionic bowel of patients with Hirschsprung's disease (HD), controversy exists as to whether these fibers terminate in the cells of the bowel wall. This study quantitates biochemically the synaptic vesicle proteins and neurofilaments in the aganglionic bowel of HD patients. The bowel specimens obtained from 12 patients with HD (mean age, 4.

Abnormal distribution of nerve terminals in infantile hypertrophic pyloric stenosis.

Smooth muscle biopsy specimens obtained from nine infants with infantile hypertrophic pyloric stenosis (IHPS) and from three controls were studied immunohistochemically with respect to the distribution of nerve terminals and neurofilaments. To label nerve terminals and neurofilaments, monoclonal antibodies (MAb) 171B5 and 2F11 were used, respectively. In all specimens of the control group, nerve terminals were numerous in both the myenteric plexus and the muscle layer.