Published online May 27, 2014. doi: 10.4254/wjh.v6.i5.358
Revised: January 9, 2014
Accepted: March 17, 2014
Published online: May 27, 2014
An eleven-year-old clinically dysmorphic and developmentally retarded male child presenting with complaints of 5 episodes of recurrent cholestatic jaundice since 3 years of age was evaluated. Imaging revealed features consistent with congenital extrahepatic portocaval shunt (Abernethy type 1b), multiple regenerative liver nodules and intrahepatic biliary radical dilatation. The presence of ductal paucity and trisomy 8 were confirmed on liver biopsy and karyotyping. The explanation for unusual and previously unreported features in the present case has been proposed.
Core tip: This study highlights the association between the congenital extrahepatic portocaval shunt with hepatic ductal paucity and trisomy 8 for the first time in the world literature. Although the exact pathophysiology remains uncertain, plausible explanations are proposed.