Enteroendocrine Cell Dysgenesis
Definition
- Congenital diarrhea syndrome associated with loss of intestinal endocrine cells
Alternate/Historical Names
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)
- Colon decreased (0-4/50 hpf)
- Chromogranin stain may be fainter than normal in the few positive cells identified
- Stomach retains normal endocrine cell numbers
- 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
Differential Diagnosis
| Enteroendocrine Cell Dysgenesis |
Microvillus Inclusion Disease |
| Normal villi |
Severe villus atrophy |
| Intestinal endocrine cells markedly decreased or absent |
Normal intestinal endocrine cells |
| Normal enterocyte cytoplasm |
PASd positive apical cytoplasmic inclusions (microlumena) |
| Normal brush border |
Loss of brush border |
Markedly decreased or absent endocrine cells |
Endocrine cells present |
Both present with neonatal diarrhea and lack significant inflammation
Both present with neonatal diarrhea and lack significant inflammation
Both present with neonatal diarrhea, essentially normal villus length and lack significant inflammation
| Enteroendocrine Cell Dysgenesis |
Autoimmune Polyglandular Syndrome Type 1 |
| Congenital onset |
Childhood or older onset |
| Unremitting diarrhea following feeding |
Transient diarrhea |
| No associated abnormalities |
Multiple endocrine organ failure, ectodermal dystrophy |
Both have essentially normal histology, without villus atrophy and decreased endocrine cells may be seen in both
| Enteroendocrine Cell Dysgenesis |
Autoimmune Enteropathy |
| Normal villi |
Partial to complete villus atrophy |
| No inflammation |
Increased lamina propria and intraepithelial lymphocytes |
| Normal goblet cells |
Goblet cells may be lost |
| Congenital |
May present after neonatal period |
| Responds to total parenteral nutrition |
Does not respond to parenteral feeding |
Endocrine cells may be depleted in autoimmune enteropathy
Clinical
- Congenital intractable diarrhea
- Associated with oral feeding of any type
- Stops with cessation of oral feeding
- Water is absorbed normally
- Leads to marked growth retardation
- Appears to be autosomal recessive
- Germline mutations of NEUROG3
- Rare
- Most patients to date appear to be of Mexican origin
Bibliography
- Cortina G, Smart CN, Farmer DG, Bhuta S, Treem WR, Hill ID, Martín MG. Enteroendocrine cell dysgenesis and malabsorption, a histopathologic and immunohistochemical characterization. Hum Pathol. 2007 Apr;38(4):570-80.
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