Biliary atresia splenic malformation syndrome: an etiologic and prognostic subgroup

Abstract

Background: The polysplenia syndrome is the most common extrahepatic anomaly found in association with extrahepatic biliary atresia. This subgroup may have a different cause and a worse prognosis than do infants with biliary atresia alone, and this hypothesis has been tested by analyzing the King's College Hospital series.

Methods: The case records of 308 infants treated between 1975 and 1991 for biliary atresia were examined for extrahepatic anomalies.

Results: Twenty-three (7.5%) infants had polysplenia and biliary atresia. There were also four infants with other types of splenic malformation: two with double spleen and two with asplenia. The presence of other anomalies such as situs inversus and portal vein anomalies in all the categories of splenic malformation suggests that they formed part of a larger association for which we now propose the term biliary atresia splenic malformation (BASM) syndrome. There was no difference in age at presentation and in biochemical test results of liver function before operation between infants with BASM and those with biliary atresia alone. Four (15%) infants with BASM were born to mothers with diabetes (three insulin dependent and one with gestational diabetes treated by diet alone). There were no other cases of maternal diabetes in the series as a whole. Actuarial "survival" (death or transplant) of infants with BASM after initial corrective operation was worse than that in a control group without anatomic anomalies (p < 0.05).

Conclusions: BASM syndrome appears to be a distinct subgroup in infants with biliary atresia. This subgroup may have a different cause and tends to have a worse prognosis than do control subjects. Whether this is caused by the presence of the other anomalies (e.g., cardiovascular anomalies), which are in themselves detrimental, is unclear.