Features of XXXX in Congenital Enteropathies: A Study in Histology and Immunohistochemistry.

@entity1 @entity2803 @entity5960 @entity5115 @entity177 @entity356
@entity5115 comprise a constellation of rare clinicopathologic diagnoses characterized by intractable watery diarrhea and @entity177 to thrive in @entity1 . These diagnoses include, but are not limited to, @entity5115 ( @entity5115 ), @entity2803 ( @entity2803 ), and enteroendocrine cell dysgenesis (EED). Commonly, the diagnosis is based on identification of their characteristic histologic and/or ultrastructural features in small intestinal mucosa. In cases in which the changes in the small intestine are inconclusive or a small intestine biopsy is not performed, the diagnosis can be hampered or significantly delayed. We describe the histologic features and immunohistochemical staining patterns of @entity356 in @entity1 with confirmed @entity5115 (3), @entity2803 (2), and EED (1). Specifically, focal epithelial tufts were found in the gastric mucosa of one @entity5115 @entity1 and multifocally in the colonic mucosa of another. All @entity5115 @entity1 showed complete loss of membranous epithelial @entity5960 expression in @entity356 , characteristic of the diagnosis. Gastric biopsies were available in 1 @entity1 with @entity2803 ; this showed focal disruption of the gastric glandular architecture. Three colon biopsies and 1 resection from 2 @entity1 with @entity2803 showed characteristic cytoplasmic vacuoles and periodic acid-Schiff/villin-positive cytoplasmic inclusions. Chromogranin stains showed complete absence of enteroendocrine cells within the colon and a normal distribution in the gastric mucosa of the EED @entity1 . On the basis of our findings, we conclude that the characteristic histologic and immunohistochemical features associated with the small intestine can be confirmed within the gastric and/or colonic mucosa by careful histologic examination and immunohistochemistry.
