Acute Late-Onset Cirrhosis in Zellweger Spectrum Disorder

Abstract

Zellweger spectrum disorders (ZSDs) are known to present with variable hepatic manifestations ranging from benign hepatosplenomegaly and elevated liver enzymes to advanced liver cirrhosis with hepatocellular carcinoma. However, the progression of liver disease in ZSD patients over time is poorly characterized due to scarcity of the disease. Herein, we report a case of newly diagnosed liver cirrhosis in a ZSD patient with rapid progression and fatal outcome to demonstrate key clinical learning points.

Keywords: Infantile Refsum disease; Liver cirrhosis; Liver disease; Peroxisomal biogenesis disorders; Zellweger spectrum disorder.