Mod Pathol 1990 Nov;3(6):694-701

Liver cell dysplasia and early liver transplantation in hereditary tyrosinemia

Manowski Z, Silver MM, Roberts EA, Superina RA, Phillips MJ
Department of Pathology, Hospital for Sick Children, Toronto, Ontario, Canada.

Abstract
Two cases of hereditary tyrosinemia presented with ascites and coagulopathy in
infancy. Both patients underwent liver transplantation at the age of 25 and 36
mo, respectively. Both cases had normal liver function 37 and 24 mo later. The
native liver in each case showed mixed micro- and macronodular cirrhosis with
hepatocellular dysplasia, including both the large and small cell varieties. One
of the subjects had also shown dysplasia in a prior liver biopsy. We compared
the hepatic morphology with that from two other cases from our autopsy files.
One of these (a female, 9 mo old) showed dysplasia, and the other (her male
sibling, 4 yr old) had a liver cell carcinoma with lung metastases. These
observations confirm prior reports that neoplastic transformation occurs early
in the natural history of hereditary tyrosinemia despite meticulous dietary
management and other supportive treatment. With the detection of liver cell
dysplasia, efforts should be intensified to find an appropriate donor. Liver
transplantation cures the hepatic disease and should be performed before
malignancy develops