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.

Remittent hyperammonemia in congenital portosystemic shunt

FERRERO, Giovanni Battista;PORTA, FRANCESCO;BIAMINO, ELISA;MUSSA, ALESSANDRO;GARELLI, Emanuela;VELTRI, Andrea;CIRILLO, Margherita;
2010

Abstract

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.
169
3
369
372
Congenital portosystemic shunt; Patent ductus venosus; Hyperammonemia; Protein loading test
Ferrero GB; Porta F; Biamino E; Mussa A; Garelli E; Chiappe F; Veltri A; Silengo MC; Gennari F
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2318/64174
Citazioni
  • ???jsp.display-item.citation.pmc??? 2
  • Scopus 17
  • ???jsp.display-item.citation.isi??? 15
social impact