# DGAT1 Mutation Associated With Congenital Diarrhea in a Pediatric Patient: A Case Report

## TL;DR

A one-year-old boy with chronic diarrhea was diagnosed with DGAT1 deficiency, highlighting the need for early genetic testing in congenital intestinal disorders.

## Contribution

This case report identifies DGAT1 deficiency as a cause of congenital diarrhea and emphasizes the role of genetic testing in diagnosis.

## Key findings

- A one-year-old boy was diagnosed with DGAT1 deficiency after ruling out other causes of chronic diarrhea.
- The patient showed clinical improvement with intensive nutritional support and monitoring.
- Early genetic testing is crucial for diagnosing congenital enteropathies and improving outcomes.

## Abstract

Chronic diarrhea in infants can stem from various etiologies, including congenital disorders affecting intestinal function. Here, we present a case of a one-year-old boy with persistent watery diarrhea, vomiting, and failure to thrive, ultimately diagnosed with DGAT1 deficiency through genetic testing. Despite initial investigations ruling out common causes like celiac disease, genetic analysis confirmed DGAT1 enteropathy. Management included intensive nutritional support and close monitoring, resulting in clinical improvement. This case underscores the importance of early genetic testing and tailored management in congenital enteropathies to prevent severe complications and improve patient outcomes.