Hereditary tyrosinemia presenting as hepatocellular carcinoma in a young infant
Keywords:Tyrosinemia, Infant, Hepatocellular carcinoma
Hereditary tyrosinemia type 1 is an inborn error of metabolism that affects numerous organs, particularly liver, kidneys and peripheral nerves. It usually presents in infants less than six months of age with features of liver failure, hepatoblastoma or hepatocellular carcinoma. Diagnosis is by a combination of clinical, biochemical and imaging features. We report here the case of a four months old infant presenting with massive hepatosplenomegaly and coagulopathy. He was detected to have hepatocellular carcinoma secondary to tyrosinemia and initiated on treatment. This report highlights the importance of considering tyrosinemia in the differential diagnosis of infants presenting with hepatic disease. Early diagnosis is important due to the presence of effective treatment and for prenatal diagnosis in subsequent pregnancies.
Bliksrud YT, Brodtkorb E, Andresen PA, vandenBerg IE, Kvittingen EA. Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect. J Mol Med (Berl). 2005;83(5):406-10.
Hostetter MK, Levy HL, Winter HS, Knight GJ, Haddow JE. Evidence for liver disease preceding amino acid abnormalities in hereditary tyrosinemia. N Engl J Med. 1983;308(21):1265-7.
Weinberg AG, Mize CE, Worthen HG. The occurrence of hepatoma in the chronic form of hereditary tyrosinemia. J Pediatr. 1976;88(3):434-8.
Alobaidy H, Barkaoui E. Experience of a single center in NTBC use in management of hereditary tyrosinemia type I in Libya. Iran J Pediatr. 2015;25(5):3608.
Chinsky JM, Singh R, Ficicioglu C, Karnebeek CDMV, Grompe M, Mitchell G, et al. Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations. Genet Med. 2017;19(12):1380.
Masurel-Paulet A, Poggi-Bach J, Rolland MO, Bernard O, Guffon N, Dobbelaere D, et al. NTBC treatment in tyrosinaemia type I: long-term outcome in French patients. J Inherit Metab Dis. 2008;31(1):81-7.
Holme E, Lindstedt S. Nontransplant treatment of tyrosinemia. Clin Liver Dis. 2000;4(4):805-14.