Persistent diarrhea that occurs in the first weeks of life and is caused by monogenic defects are defined as congenital diarrhea and enteropathies (CoDEs). The PERCC1 (proline and glutamate-rich protein with coiled-coil domain 1) gene which has a role in development of enteroendocrine cells, was recently found to be associated with CoDEs. We report the clinical, laboratory, and histopathologic findings of CoDE caused by a novel, homozygous variant (c.337 del) in the second exon of PERCC1 gene in an infant diagnosed at 2 months postnatally. The unique findings in our case were the location and/or distribution abnormality of enteroendocrine cells and exocrine pancreatic insufficiency. We can conclude that these distinctive features may expand the spectrum of PERCC1-associated CoDE.
Akkelle et al. (Sun,) studied this question.