CASE REPORT   

Minerva Pediatrica 2001 August;53(4):355-8

Copyright © 2001 EDIZIONI MINERVA MEDICA

language: Italian

Biliary atresia splenic malformation syndrome. A case report

Saggiomo G., Tramontano A., Capobianco A., Gaglione G., Di Meglio D.

Biliary atresia is a severe neonatal malformation in which the entire extrahepatic biliary tract or part of it is absent and replaced by fibrosclerotic tissue. Having been described for the first time by Thomson in 1891, biliary atresia has an incidence of 1:10,000-15,000 live neonates with a slight predominance in the female sex; it is associated with other malformations in 25% of cases. In 1993 Davenport et al. identified a subgroup of patients with biliary atresia who presented a splenic malformation. This condition was known as biliary atresia and splenic malformation syndrome (BASM). The cases of biliary atresia and BASM are still not clear and a number of etiopathogenetic hypotheses have been put forward. The treatment is surgical and includes a first stage of hepatic-porto-enteroanastomosis using a defunctionalised Roux loop (Kasal), followed by the definitive operation comprising liver transplant.
We report the case of a boy who was brought to our attention with jaundice, polypnea and hepatosplenomegalia; instrumental tests allowed the diagnosis of biliary atresia, median liver, stomach and spleen on the right, polysplenia, atresia of the intrahepatic tract of the inferior vena cava, presence of a superior vena cava to the left that drained into the upper left portion of the common atrium. Moreover, the cardiac apex was present on the right, extensive DIA of the common atrium type, extensive DIV and right aortic arch.