Chihiro Tani MD, Presenter: Nothing to Disclose

Yoko Kaichi, Abstract Co-Author: Nothing to Disclose

Yukiko Honda MD, Abstract Co-Author: Nothing to Disclose

Daisuke Komoto MD, Abstract Co-Author: Nothing to Disclose

Shuji Date, Abstract Co-Author: Nothing to Disclose

Kazuo Awai MD, Abstract Co-Author: Research Grant, Toshiba Corporation Research Grant, Hitachi Ltd Research Grant, Bayer AG Research Consultant, DAIICHI SANKYO Group Research Grant, Eisai Co, Ltd

Wataru Fukumoto, Abstract Co-Author: Nothing to Disclose

Severe hypergalactosemia is a genetic metabolic disorder due to a deficiency in an enzyme responsible for galactose degradation. In some neonates, mild hypergalactosemia it due to a disorder of the portal venous system. The purpose of this study was to investigate the incidence and morphological findings of portal venous abnormalities by ultrasound (US) in neonates in whom mass screening detected hypergalactosemia.

This study included 89 neonates in whom mass screening detected hypergalactosemia during the last 4 years. All underwent color Doppler US at their first visit. Their mean age was 20.1 days (range 9–41 days). Using US, we retrospectively assessed the incidence and causative factors of the abnormal US findings.        

US returned abnormal findings in 38 (42.7%) of the 89 neonates. Of the abnormal findings, 29 revealed delayed closure of the ductus venosus, 6 showed an intrahepatic portosystemic shunt, and in one case each we observed both delayed closure of the ductus venous and intrahepatic portosytemic shunt, a congenital extrahepatic portosystemic shunt (CEPS), and biliary atresia. In 27 of the neonates with delayed closure of the ductus venosus the shunt flow dissappeared after spontaneous closure and their blood galactose level decreased. In the other 2 neonates metabolic study returned a diagnosis of enzyme deficiency; their hypergalactosemia persisted even after spotaneous closure. In 4 of the 6 infants with an intrahepatic portosystemic shunt the shunt closed spontaneously during follow-up. In the other 2 neonates the shunt did not close spontaneously and they were monitored because the shunt flow was small. In the patient with both delayed closure of the ductus venous and an intrahepatic portosytemic shunt, both closed spontaneous during follow up. The 2 neonates with CEPS and biliary atresia underwent additional imaging studies and surgery. In 51 of the 89 cases there were no abnormal findings; 46 manifested transient hypergalactosemia, and 5 presented with enzyme deficiency.

In neonates identified by mass screening as hypergalactosemic, US is important because it reliably identifies patients requiring surgical intervention.

Although the pathogenesis of hypergalactosemia is variable, a major cause is portosytemic shunt. In neonates with hypergalactosemia, US should be acquired to rule out portal venous system anomalies requiring surgical intervention.

Tani, C, Kaichi, Y, Honda, Y, Komoto, D, Date, S, Awai, K, Fukumoto, W, Clinical Importance of Portal Vein Imaging in Neonates with Mild Hypergalactosemia.  Radiological Society of North America 2014 Scientific Assembly and Annual Meeting, - ,Chicago IL. http://archive.rsna.org/2014/14007092.html