alpha 1-antitrypsin deficiency presenting with ascites and cirrhosis in the neonatal period.
We report a 2-wk-old baby with alpha 1-antitrypsin deficiency of Pizz phenotype, who presented with massive ascites and hepatomegaly. Liver biopsy disclosed active established cirrhosis. Unlike all other reported newborns with Pizz type, the patient had no evidence of neonatal cholestatic jaundice. The presentation of Pizz with established liver cirrhosis at such an early age not only adds another cause of cryptogenic cirrhosis in the neonatal period, but also points to a liver insult in some patients with Pizz, which is already determined in utero.
D001201:Ascites / Q000150:complications* / Q000151:congenital; D006529:Hepatomegaly; D006801:Humans; D007231:Infant, Newborn; D008103:Liver Cirrhosis / Q000150:complications* / Q000151:congenital; D008297:Male; D010641:Phenotype; D019896:alpha 1-Antitrypsin Deficiency