Patients with hereditary tyrosinemia type 1 have an elevated risk of developing hepatocellular carcinoma, especially if initiation of treatment with 2-(2-nitro-4-trifluoro-methylbenzoyl)-1,3-cyclohexanedione is delayed. Hepatocellular carcinoma can usually be suspected when there are increased α1-fetoprotein levels and characteristic imaging features. The present case shows that a lack of a clear increase in α1-fetoprotein should still lead to consideration of liver transplantation when imaging features change.
Keywords: 2-(2-nitro-4-trifluoro-methylbenzoyl)-1,3-cyclohexanedione; NTBC; hepatocellular carcinoma; tyrosinemia type 1; α-fetoprotein.
Copyright © 2015 by the American Academy of Pediatrics.