Tyrosinaemia and Hepatocellular carcinoma in an Infant

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Introduction

Hepatocellular carcinoma is a known association with tyrosinaemia but usually presents later in life and is often identified by screening affected individuals. We present a case of a 4 month old twin girl with significant abdominal distension, deranged liver function tests and a well circumscribed intrahepatic mass, initially felt to be a hepatoblastoma. Features of decompensated liver disease with moderate coagulopathy occurred with the introduction of feeds and improved with fasting. The diagnosis of tyrosinaemia type 1was suggested. However, she did not have a succinylacetone peak on urinary organic acid analysis. The diagnosis was subsequently confirmed on DNA analysis. This is 1 of only 2 such cases in Ireland. Chemotherapy was Cisplatin. NTBC and diet controlled the metabolic features of Tyrosinaemia 1. Liver transplantation successfully treated both diseases. Hepatocellular carcinoma was identified in the explanted liver. Sibling screening is in progress.