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Published on: October 21, 2014
Unusual ultrastructural features in microvillous inclusion disease: A report of two cases
Manrico Morroni1, Angela Maria Cangiotti, Alfredo Guarino
1Institute of Normal Human Morphology, Faculty of Medicine, Polytechnic University of Marche, Ancona, Italy. m.morroni@univpm.it
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.
Insights
Microvillous Inclusion Disease (MID) causes severe infant diarrhea. This study found immature goblet cells in MID patients, a potential diagnostic marker requiring further investigation.
Area of Science:
- Gastroenterology
- Cell Biology
- Pediatric Pathology
Background:
- Microvillous Inclusion Disease (MID) is a rare inherited enteropathy causing severe diarrhea in infants.
- Diagnosis relies on identifying characteristic microvillous inclusions within enterocytes via electron microscopy.
- Understanding cellular changes in MID, including goblet cells, can enhance diagnostic capabilities.
Observation:
- Duodenal biopsies from two infants with MID were analyzed using light and electron microscopy.
- MID enterocytes exhibited brush-border abnormalities, microvillous inclusions, dense granules, and lysosomes.
- Immature goblet cells with microvilli were observed in one MID case, but only mature goblet cells were found in controls.
Findings:
- Ultrastructural analysis revealed pathognomonic microvillous inclusions in enterocytes of infants with MID.
- Atrophy of intestinal villi and PAS-positive material in enterocyte cytoplasm were noted.
- The presence of immature goblet cells in MID mucosa is a novel observation.
Implications:
- Immature goblet cells may serve as a potential diagnostic indicator for Microvillous Inclusion Disease.
- Further research is needed to elucidate the functional significance of immature goblet cells in MID.
- This study contributes to a deeper understanding of the cellular pathology of inherited diarrheal disorders.
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