Hepatocellular carcinoma in a child with hereditary tyrosinemia type I despite early NTBC therapy: When should we suspect it?

Tyrosinemia is one of the rare metabolic diseases in children. Treatment with NTBC has significantly reduced the risk of cirrhosis and therefore of neoplastic complications, including hepatocellular carcinoma, especially if treatment is started early. Close monitoring of children with this disease is necessary and must include thorough clinical, biological, and radiological investigations in the event of any suspicion of malignant complications. Liver transplantation has been the subject of much controversy in the curative treatment of the disease, as well as its major complication, hepatocellular carcinoma.