Hypergalactosaemia and portosystemic encephalopathy due to persistence of ductus venosus Arantii

Abstract

Hypergalactosaemia was discovered in a newborn girl during routine metabolic screening. Hereditary enzyme deficiency was ruled out. Because hypergalactosaemia persisted, an open ductus venosus Arantii was suspected but remained undetected by conventional two-dimensional ultrasonography. It was demonstrated by combined colour and pulsed wave Doppler sonography. At age 3 years 6 months, the girl developed initial symptoms of portosystemic encephalopathy which progressed and was treated by protein restriction, oral lactulose and flumazenil, with some success. In the absence of enzyme deficiency, hypergalactosaemia in the newborn is an early sign of duct persistence. For the unambiguous diagnosis of an open duct, colour Doppler sonography is the method of choice. Pulsed wave Doppler sonography is recommended for pathophysiological characterisation of the splanchnic venous return.

Successful Treatment Using Coil Embolization of a Symptomatic Intrahepatic Portosystemic Venous Shunt Developing through a Patent Ductus Venosus in a Noncirrhotic Adult

“…When the ductus venosus remains patent, there is a risk of progression to liver dysfunction, including cirrhosis and hepatic insufficiency. There have been many reports of pediatric patients showing hyperammonemia, liver dysfunction, retardation of mental development and portal-systemic encephalopathy due to retention of the portal-hepatic vein shunt (15,16). In our case, however, the patient grew up without encephalopathy or mental retardation.…”

Spontaneous Portal-Venous Shunt of the Liver

“…In a newborn the presence of hypergalactosemia on screening tests without evidence of galactose enzyme deficiency is indicative of a portosystemic shunt [2]. Indeed under normal circumstances, galactose is almost totally extracted from splanchnic blood at first passage through the liver but if a shunt exists, blood bypasses the liver and galactose extraction is incomplete.…”

Insight into congenital absence of the portal vein: Is it rare?

“…CAPV patients also could have chronic renal failure [33,34] . Gonadal hormonal disorder [33,47,66] can result in hypergalactocemia [66][67][68] , primary amenorrhoea and signs of virilization [33] . Satoh's patients present with hyperandrogenism, insulin resistant hyperinsulinaemia, and hyperglycaemia [47] .…”

“…Before arriving at the liver, blood from the vena cava reaches the capillaries of peripheral tissues, including adipose and muscular tissue where fat is accumulated, and this presumably constitutes the cause of obesity in such cases [37] . Gitzelmann et al [67] detected patients with hypergalactosaemia along with congenital portosystemic shunts [66][67][68] , and proposed that high blood galactose found in newborns is useful for detecting this abnormality. Hypergalactosaemia might also result from insulin resistance (IR) which is correlated to LD [47] .…”