Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea.

摘要

In 2007, we described a syndrome of intractable diarrhea of infancy, owing to tufting enteropathy, with findings of choanal atresia/stenosis, mild shortness of stature, mild facial dysmorphism, chronic corneal inflammation, episodic cytopenia, and abnormal hair texture (Bird et a/., 2007). These findings were seen in variable combination in three siblings.