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

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.