Clinical expression

Typically, the patients present during the first weeks of life with severe diarrhea. Most have affected consanguineous parents and/or siblings, some of whom died during the first months of life with severe diarrhea of unknown origin. Most of the time, diarrhea persists despite bowel rest, but at a lower level when compared to MVID. Therefore, attempts at continuous enteral feeding with protein hydrolysates or amino acid-based formulas were performed in some patients. Unfortunately, most often the continuous enteral feeding exacerbated the diarrhea, and particularly the newborns with IED did not grow adequately. They rapidly developed failure to thrive, with severe protein energy malnutrition. Because of the early onset of diarrhea, MVID is often suspected in these children. However, morphological analysis of small- and large-bowel biopsies easily distinguishes these entities (see above). A major problem in the diagnosis of IED is its clinical and histologi-cal heterogeneity.

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