Evidence of Altered Enteric Nervous System Structure Associated With Severe Dysmotility in a Patient With Ehlers-Danlos Syndrome

Patients with Ehlers-Danlos syndrome (EDS) suffer from gastroparesis, constipation, and gut dysmotility. We present a case of histopathological assessment of the enteric nervous system from an EDS patient with severe gut dysmotility. Full-thickness small bowel biopsies with immunostains for c-kit and S-100 within the myenteric plexus revealed no significant abnormality. Using the method by Boschetti et al of Neuronal Specific Enolase-based immunostaining, we found that interganglionic distance in the myenteric plexus (∼800 um) exceeded the normal range (380-570 µm). This clinical experience provides rationale for pursuing histopathology in patients with EDS.