Percc1-Associated Congenital Diarrhea and Enteropathy: Description of a Novel Variant.
Bilge S Akkelle, Emine Celik, Esra Dirimtekin et al.
✦ AI-curated · Sources linked
Case in brief
An infant diagnosed at 2 months of age had congenital diarrhea and enteropathy associated with a novel homozygous PERCC1 variant, c.337 del, in exon 2. Clinical, laboratory, and histopathologic assessment identified abnormalities in the location and/or distribution of enteroendocrine cells, along with exocrine pancreatic insufficiency. The report describes these findings as extending the recognized clinical and pathologic features associated with PERCC1-related congenital diarrhea and enteropathy.
What made this case unusual
The case combined enteroendocrine-cell location and/or distribution abnormalities with exocrine pancreatic insufficiency in association with a novel homozygous PERCC1 variant.
Diagnostic / clinical pearl
In an infant with congenital diarrhea and enteropathy, PERCC1-associated disease may include enteroendocrine-cell abnormalities and exocrine pancreatic insufficiency.