Surgical Pathology Criteria

Enteroendocrine Cell Dysgenesis

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

 

Enteroendocrine Cell Dysgenesis Tufting Enteropathy
Normal villi Variable villus atrophy
No enterocyte disorder or tufting Surface epithelial crowding and tufting at villus tips
Markedly decreased or absent endocrine cells Endocrine cells present
Both present with neonatal diarrhea and lack significant inflammation

 

Enteroendocrine Cell Dysgenesis Abetalipoproteinemia
Normal enterocyte cytoplasm Foamy cytoplasm filled with fat vacuoles
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

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