Year: 2024
Type: article
Study design: Case Report
Abstract: Inherited diarrheal diseases are group of disorders which cause significant morbidity with dependence on parental nutrition. Microvillus inclusion disease (MVID) is a secretory enteropathy with autosomal recessive inheritance associated with bi allelic mutations in MYO5B gene or more rarely STX3 gene. We report a newborn, which developed diarrhea since birth and whose exome sequencing showed the rare mutation of biallelic STX3. There is a possibility of familial involvement (two other siblings having similar symptoms involved, but not evaluated and died) in this particular case. All three had antenatal polyhydramnios and dilated bowel loops. This case report describes an infant diagnosed with congenital diarrhea due to a genetic mutation, explores the diagnostic process, and outlines the management strategies and outcomes. The report emphasizes the importance of early diagnosis and tailored treatment in improving patient outcomes.
Institution: Yashoda Hospital
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4404679070