Reduced number of neurons in esophageal plexus ganglia in Down syndrome: additional evidence for reduced cell number as a basic feature of the disorder.

Four patients with Down syndrome and 3 age-matched control patients were studied by a microdissection technique to investigate the number of neurons in the ganglia of the deep submucous and Auerbach plexuses of the esophagus. The mean number of neurons per ganglion of the deep submucous plexus in Down patients was 69% of the control value, and the value for the Auerbach plexus was 75% of control number. These findings may explain esophageal dysfunction, common in Down syndrome, and support a proposal that a biochemical "signal" relating to chromosome 21 determines the number and sizes of certain cell types.