Remittent hyperammonemia in congenital portosystemic shunt

Congenital portosystemic shunts (PSS) are rare vascular anomalies with different gross anatomy. Persistent patent ductus venosus (PDV) represents an uncommon cause of intrahepatic PSS. The diagnosis of this condition may not be obvious because of its wide spectrum of clinical manifestations, ranging from asymptomatic to life-threatening disease. We report the case of three boys with neuropsychological symptoms associated with mild fasting hyperammonemia. An oral protein load allowed the detection of a detoxication defect due to PSS related to PDV. This simple procedure can be worthwhile of attention in patients with mental retardation, behavior disturbances, and learning difficulties after exclusion of common causes of inherited hyperammonemia, namely, urea cycle disorders, organic acidemias, and fatty acid oxidation defects.