Alpha1-antitrypsin Deficiency and Severe Infantile Liver Disease

Liver disease in infants with alpha₁-antitrypsin deficiency was first reported by Freier et al in 1968.¹ This type of infantile liver disease has been observed almost exclusively in association with the ZZ phenotype for the protease inhibitor system.² Alpha₁-antitrypsin deficiency with liver disease has also been described in heterozygous adults with phenotype SZ, but has been rarely implicated as a cause of neonatal hepatitis and subsequent chronic liver disease in childhood.^3.4 In addition, the characteristic hepatocellular PAS-positive granules observed in the liver biopsy specimens of pediatric patients with ZZ phenotype have been infrequently observed in other phenotypes.⁵ We are reporting a case of alpha₁-antitrypsin deficiency in an infant with SZ phenotype associated with severe cholestatic liver disease and parenchymal deposition of PAS- positive material.

Report of a Case.—A male infant weighing 1,600 g was delivered by cesarean section at 31 to