Afroze B, Zehra Fadoo and Zabedah Mohammad Yunus (2013). Hereditary tyrosinaemia type 1 presenting as multiple focal hepatic lesions. Journal of Pakistan Medical Association 63(8): 1044-1046
Hereditary tyrosinaemia type I is a devastating autosomal recessive metabolic disorder, which, if untreated, causes liver failure, rickets, painful neurological crisis and hepatocellular carcinoma. With the advent of 2-(2-nitro-4 trifluoromethylbenzoyl) -1,3 cyclohexanedione, the outcome of hereditary tyrosinaemia type I has significantly improved; however this treatment is very expensive. For early diagnosis of hereditary tyrosinaemia type I, a high index of suspicion is required in children presenting with hepatomegaly, significantly raised alpha-fetoprotein and multiple focal hepatic masses. Children with untreated disease often succumb to the illness within the first 2 years of life.