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