Multisystem imaging findings as diagnostic red herrings in Wilson's disease.
Lujain Hassan, Esther Sleigh, Alisha Giby et al.
✦ AI-curated · Sources linked
Case in brief
A previously healthy man in his 20s presented with fever, cough, jaundice, and a right-sided pleural effusion. Initial tests revealed significant hepatic dysfunction, and imaging showed cirrhotic liver morphology, splenomegaly, and ascites. Further evaluation identified Wilson's disease through Kayser-Fleischer rings, low serum caeruloplasmin, and genetic testing. Treatment with penicillamine led to clinical and biochemical improvement.
What made this case unusual
The case illustrates how imaging findings, such as gallbladder wall edema and colonic wall thickening, were misinterpreted as separate conditions rather than manifestations of portal hypertension associated with Wilson's disease.
Diagnostic / clinical pearl
Clinicians should consider Wilson's disease in young adults with unexplained hepatic dysfunction and interpret imaging findings in the context of clinical and biochemical data.
Why it matters
This case emphasizes the need for a comprehensive approach to imaging interpretation, particularly in complex cases where multisystem involvement may obscure the underlying diagnosis.