Published online Aug 29, 2019. doi: 10.5409/wjcp.v8.i3.43
Peer-review started: February 20, 2019
First decision: April 16, 2019
Revised: May 30, 2019
Accepted: July 30, 2019
Article in press: July 30,2019
Published online: August 29, 2019
Core tip: Microvillus inclusion disease is a rare autosomal recessive cause of severe congenital diarrhea with significant morbidity and mortality. Infants most commonly present with failure to thrive, severe diarrhea, cholestasis, and electrolyte abnormalities. Diagnosis can be challenging and a few genetic panels are available for the identification of the most common mutations. We present the case of an infant transferred to our institution with severe diarrhea, failure to thrive, and significant metabolic derangements who was subsequently found to have a novel mutation in the MYO5B gene [homozygous mutation for MYO5B c.1462del, p. (Ile488Leufs*93)]. Infants with microvillus inclusion disease generally require life-long intravenous nutritional support or bowel transplant.