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Biliary atresia splenic malformation syndrome: an etiologic and prognostic subgroup
M Davenport1, M Savage, A P Mowat
1Department of Surgery, King's College Hospital, London, U.K.
Insights
Infants with biliary atresia splenic malformation (BASM) syndrome have a worse prognosis than those with biliary atresia alone. This distinct subgroup, characterized by splenic malformations, requires further investigation into its causes and associated anomalies.
Area of Science:
- Pediatric Surgery
- Gastroenterology
- Medical Genetics
Background:
- Polysplenia syndrome is a common extrahepatic anomaly associated with biliary atresia.
- This association may indicate a distinct etiology and poorer prognosis compared to isolated biliary atresia.
Purpose of the Study:
- To investigate the hypothesis that infants with biliary atresia and polysplenia have a different cause and worse prognosis.
- To analyze the King's College Hospital series for extrahepatic anomalies in biliary atresia.
Main Methods:
- Retrospective review of 308 infants treated for biliary atresia between 1975 and 1991.
- Examination of case records for the presence of extrahepatic anomalies, specifically splenic malformations.
Main Results:
- Seven percent of infants had biliary atresia with splenic malformations, termed biliary atresia splenic malformation (BASM) syndrome.
- BASM syndrome was associated with other anomalies like situs inversus and portal vein anomalies.
- Infants with BASM showed no difference in presentation age or liver function tests but had a worse post-operative survival rate (death or transplant) compared to controls.
Conclusions:
- BASM syndrome represents a distinct subgroup of biliary atresia with a potentially worse prognosis.
- The underlying cause of BASM syndrome may differ from isolated biliary atresia.
- The contribution of associated anomalies, such as cardiovascular defects, to the poorer prognosis remains unclear.
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.