21st July 2023

A 17-year-old boy presents to your clinic with jaundice and unsteadiness.

A 17-year-old boy presents to your clinic with jaundice and unsteadiness. On examination, you note palmar erythema and discolouration of his eyes. On examination, he has a mild flap, his eyes have dark rings around the cornea, and he is ataxic. His sclerae are yellow, and he has lots of bruises and ecchymosis. His observations are unremarkable. He has no significant family history but is estranged from his uncles, though he does think one of them died of heart failure, and he remembers him being very unsteady and unwell at a young age. His bloods reveal a high cerulosplasmin. He is awaiting the results of his 24-hour urinary collection but cannot remember exactly what this was for.

What is the most likely diagnosis?

Select the SINGLE most appropriate option from the list below. Select ONE option only.