Synonym: intestinal epithelial dysplasia
Clinical features:
(1) onset of chronic watery diarrhea within a few weeks or months of birth
(2) variable dysmorphic facial features
(3) malabsorption with failure to thrive
(4) requirement of parenteral nutritional support for adequate caloric intake
Pathologic features in jejunal biopsies:
(1) partial or total villus atrophy
(2) crypt hyperplasia
(3) normal to slight increase in inflammatory cells in the lamina propria (absence of a significant inflammatory cell infiltrate)
(4) epithelial tufts composed of tear-drop shaped enterocytes with negative PAS staining of the cytoplasm
Differential diagnosis:
(1) microvillus inclusion disease
(2) celiac sprue
(3) autoimmune enteropathy
(4) IPEX syndrome (see Chapter 43(
