Hereditary alpha1--antitrypsin deficiency associated with congenital extrahepatic bile duct hypoplasia.

A child, two months of age, suffering from cholestasis and biliary cirrhosis, was found to be homozygous for alpha1-antitrypsin deficiency Pi type ZZ associated with high degree extrahepatic bile duct obstruction. The clinical, protein-chemical, genetic, histological and immuno-histochemical findings in the patient are reported and the relationships between these two anomalies interpreted. An interaction between the very rare defects rather than random association is suggested.