Congenital diarrhea in a newborn infant: A case report.

ABSTRACT:

Background

Microvillus inclusion disease (MVID) is a rare autosomal recessive cause of severe congenital diarrhea with significant morbidity and mortality. Definitive treatment involves bowel transplant. The diagnosis of this condition 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 with MVID due to a mutation not reported in the literature before.

Case summary

We report the case of an infant transferred to our institution with severe diarrhea of unknown etiology, failure to thrive, and significant metabolic derangements. An extensive work-up including stool studies for common gastrointestinal pathogens, abdominal ultrasound, esophagogastroduodenoscopy with duodenal biopsy and fle

SUBMITTER: Sadiq M 

PROVIDER: S-EPMC6753393 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature