Evaluation of Wilson Disease With 18F-FDG PET/CT

Abstract

Wilson disease is an autosomal-recessive disorder with copper accumulation and deposition in different organs. Disturbances in liver function and basal ganglia lead to hepatic and extrapyramidal motor symptoms. Age of onset ranges from 5 to 40 years of age. Wilson disease should be ruled out by measuring serum ceruloplasmin levels, and 24-hour urinary copper levels. We report a case of a 30 year-old female who had experienced progressive dystonia for a year. A decreased uptake of glucose metabolism using 18F-Fluoro-desoxyglucose-Positron-EmissionTomography/Computed-Tomography (18F-FDG PET/CT) in the striatal area has been reported in the literature. With low levels of ceruloplasmin, elevation of aminotransferase activity and 24-hour urinary copper levels, associated with PET results using 18F FDG led to the diagnosis of Wilson disease. This study shows the feasibility of using in vivo imaging FDG PET/CT for identification of Wilson disease when there is a high clinical suspicion.