Case Report
Copyright ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Pediatr. Aug 29, 2019; 8(3): 43-48
Published online Aug 29, 2019. doi: 10.5409/wjcp.v8.i3.43
Congenital diarrhea in a newborn infant: A case report
Mehrin Sadiq, Omer Choudry, Arun K Kashyap, Danitza M Velazquez
Mehrin Sadiq, Omer Choudry, Arun K Kashyap, Danitza M Velazquez, Robert Wood Johnson University Hospital, Rutgers University, New Brunswick, NJ 08901, United States
Author contributions: All authors contributed to the drafting and revision of the case report manuscript and were involved in the clinical care of the patient. All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.
Conflict-of-interest statement: The authors have no conflicts of interest to disclose.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
Corresponding author: Danitza M Velazquez, MD, Robert Wood Johnson University Hospital, Rutgers University, 1 Robert Wood Johnson Place, MEB 312D, New Brunswick, NJ 08901, United States.
Telephone: +1-201-3627074 Fax: +1-732-2355668
Received: February 20, 2019
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

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.