Multisystem imaging findings as diagnostic red herrings in Wilson's disease.

Abstract

A previously well man in his 20s presented with fever, cough, new-onset jaundice and a right-sided pleural effusion. Initial investigations demonstrated marked hepatic synthetic dysfunction. Subsequent imaging demonstrated cirrhotic liver morphology with splenomegaly and ascites. Additional findings of gallbladder wall oedema and focal colonic wall thickening broadened the differentials but following specialist radiology review, these abnormalities were recognised as manifestations of portal hypertension rather than separate disease processes.Further investigations confirmed Wilson's disease including Kayser-Fleischer rings, low serum caeruloplasmin, MRI brain consistent with Wilson's disease, copper deposition on liver biopsy and confirmatory ATP7B genetic testing. Following multidisciplinary discussion, penicillamine therapy was commenced with subsequent clinical and biochemical improvement.This case highlights the importance of interpreting radiological findings alongside the clinical presentation and biochemical context, recognising portal hypertension as a unifying explanation for multisystem imaging abnormalities and considering Wilson's disease in young adults presenting with otherwise unexplained hepatic synthetic dysfunction.