Unusual ultrastructural features in microvillous inclusion disease: A report of two cases

Abstract

Microvillous Inclusion Disease (MID) is an inherited disorder characterized by intractable diarrhea in infancy. Ultrastructural detection of pathognomonic microvillous inclusions in the enterocytes is essential for diagnosis. The aim of this research is to contribute to the knowledge of MID studying enterocytes and goblet cells (gc). Samples of duodenal mucosa from two young infants with MID (aged 75 days and 3 months, respectively) were studied by light and electron microscopy. Detection in the intestinal villi of immature gc (with microvilli) in one of the cases led us to seek them in control samples. The total number of gc with microvilli (immature) and without microvilli (mature) were counted. In both MID specimens, light microscopy showed atrophy of villi and PAS-positive material in the enterocyte cytoplasm. The ultrastructure of villous enterocytes was characterized by brush-border abnormalities, microvillous inclusions, dense apical granules, and lysosomes. Intermediate structures between microvillous inclusions and lysosomes were also detected within a cell, as were rare microvilli on the lateral membrane of the enterocytes. In one MID specimen, immature gc were also identified in the absorptive compartment. Only mature gc were observed in the controls. The significance of the latter finding requires further studies.