Pyloric stenosis and direct hyperbilirubinemia with alpha-1-antitrypsin deficiency.
The occurrence of unconjugated hyperbilirubinemia in infants with pyloric stenosis is common. We report an infant who presented with projectile vomiting secondary to pyloric stenosis. In addition, he had conjugated hyperbilirubinemia which proved to be due to alpha-1-antitrypsin deficiency of PiZZ phenotype. This is the first case report of such an association. Infants with pyloric stenosis and conjugated hyperbilirubinemia should be investigated for underlying infectious, metabolic causes or anatomical defects of the biliary tree.
D006801:Humans; D006932:Hyperbilirubinemia / Q000150:complications / Q000209:etiology*; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011707:Pyloric Stenosis / Q000150:complications / Q000151:congenital* / Q000601:surgery; D019896:alpha 1-Antitrypsin Deficiency