Enteroendocrine Cell Dysgenesis
Definition
- Congenital diarrhea syndrome associated with loss of intestinal endocrine cells
Alternate/Historical Names
- Enteric anendocrinosis
Diagnostic Criteria
- Congenital diarrhea associated with feeding
- Stops if oral feeding discontinued
- Normal water absorption
- Essentially normal histology
- No villus atrophy or inflammation
- Endocrine cells markedly depleted
- Small intestine very rare (0-4/50 hpf)
- Normal 145/50 hpf
- Colon decreased (0-4/50 hpf)
- Normal 85/50 hpf
- Chromogranin stain may be fainter than normal in the few positive cells identified
- Stomach retains normal endocrine cell numbers
- Small intestine very rare (0-4/50 hpf)
- All other cell types normal
Robert V Rouse MD
Department of Pathology
Stanford University School of Medicine
Stanford CA 94305-5342
Original posting : November 11, 2009