Hum Pathol 1989 Feb;20(2):149-58

Hereditary tyrosinemia type I (chronic form): pathologic findings in the liver

Dehner LP, Snover DC, Sharp HL, Ascher N, Nakhleh R, Day DL
Department of Laboratory Medicine and Pathology (Division of Surgical
Pathology), University of Minnesota Medical School and Hospital, Minneapolis
55455.

Abstract
Hereditary tyrosinemia type I presents with either acute hepatic failure in the
neonatal period or later in infancy with progressive liver dysfunction secondary
to cirrhosis. The inevitably fatal outcome in those children with the chronic
form has been transformed with the advent of liver transplantation. Native
livers from five children who received allografts were studied pathologically
and compared with earlier hepatic biopsies in two of these patients that had
been performed several years before transplantation. Our findings support the
conclusion that a sequence of morphologic changes from the initial micronodular
cirrhosis through an intermediate mixed cirrhotic pattern to macronodular
cirrhosis occurs. The micronodular phase is transitory, over a period of only a
few months, since mixed micronodular macronodular cirrhosis was already present
in the livers of children who received transplants by 11 months of age. Focal
hepatocellular dysplasia was present in one of the livers with mixed cirrhosis
but was not identified in the other two cases. Macronodular cirrhosis
accompanied two cases of hepatocellular carcinoma in this study. In order to
preclude the latter complication, liver replacement is necessary before the age
of 2 years