title: Liver cell dysplasia and early liver transplantation in hereditary tyrosinemia.
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.
authors.affiliation: Department of Pathology, Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Z
authors.initials: Z
authors.lastname: Manowski
authors.forename: M M
authors.initials: MM
authors.lastname: Silver
authors.forename: E A
authors.initials: EA
authors.lastname: Roberts
authors.forename: R A
authors.initials: RA
authors.lastname: Superina
authors.forename: M J
authors.initials: MJ
authors.lastname: Phillips
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D006528:Carcinoma, Hepatocellular / Q000473:pathology / Q000601:surgery / Q000648:ultrastructure; D005260:Female; D006801:Humans; D007223:Infant; D008099:Liver / Q000473:pathology* / Q000648:ultrastructure; D008103:Liver Cirrhosis / Q000473:pathology / Q000601:surgery; D008113:Liver Neoplasms / Q000473:pathology* / Q000601:surgery / Q000648:ultrastructure; D016031:Liver Transplantation; D008297:Male; D011230:Precancerous Conditions / Q000473:pathology* / Q000648:ultrastructure; D014443:Tyrosine / Q000097:blood*
chemical_list: D014443:Tyrosine