A rare cause of neonatal cholestasis: congenital portosystemic shunt

Neonatal cholestasis is a pathological condition characterized by impaired bile flow in infants, typically presenting within the first 3 months of life. While common etiologies include biliary atresia, metabolic disorders, and infections, rare causes such as congenital portosystemic shunts must also be considered in the differential diagnosis. We present the case of a term infant with a congenital portosystemic shunt who presented with cholestasis and hyperammonemia. Bilirubin and liver function enzymes gradually decreased after initiation of ursodeoxycholic acid therapy. In newborns presenting with hypoglycemia, cholestasis, and thrombocytopenia, initial investigations are usually performed for metabolic diseases, congenital infections (toxoplasmosis, cytomegalovirus, rubella, herpes simplex virus), and genetic causes. As these tests may take time to return, early radiological imaging should be pursued to evaluate for anatomical abnormalities.