Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene

Clin Case Rep. 2018 Oct 30;6(12):2451-2456. doi: 10.1002/ccr3.1879. eCollection 2018 Dec.


Microvillous inclusion disease (MVID) typically appears with severe chronic diarrhea in the few days after birth and rapidly causes dehydration and metabolic acidosis. In this context, presenting two novel cases, we underline the crucial importance of mutation analysis for the diagnosis of this disease that may be easily misdiagnosed.

Keywords: chronic diarrhea; congenital diarrheal disorders; defects of enterocyte structure; gene; microvillous inclusion disease; mutations.

Publication types

  • Case Reports