Congenital Diarrhea and Enteropathies

Diarrhea in neonates is usually secondary to an infectious process or a food protein allergy. Once the infection is treated or the allergen is removed, the diarrhea resolves without lifelong sequelae. On the contrary, infants with anatomical disorders such as intestinal atresia, gastroschisis, malrotation with volvulus, or necrotizing enterocolitis can present with protracted diarrhea secondary to poor gut motility and short bowel syndrome. A small group of infants who present with severe diarrhea shortly after birth can have a congenital enteropathy resulting from a monogenic disorder. This group poses clinical challenges that require intensive resuscitation and meticulous diagnostic evaluation aimed at optimizing interventions and outcomes. In this review, we will provide a diagnostic and management approach for infants with congenital enteropathies.