Wilson’s Disease: A Brief Review with Neuroimaging Features
Journal Title: Indian Journal of Applied Radiology - Year 2015, Vol 1, Issue 1
Abstract
Wilson disease is a metabolic disease resulting from defective copper metabolism leading to deposition of copper in liver, brain and eyes. Gene involved is ATP7B on chromosome 13. Systemic involvement presents in form of hepatitis, fulminant hepatic failure, cirrhosis, dysarthria, dystonia, spasticity, seizures, behavioral changes, psychosis, hemolytic anemia, thrombocytopenia, renal tubular defect, congestive cardiac failure, arrhythmias, gynecomastia, parathyroid insufficiency etc. Diagnosis is made on the basis of laboratory findings of elevated serum bilirubin, deranged coagulation profile, low serum ceruloplasmin levels, increased 24 h urinary copper levels, increased hepatic copper levels. The brain lesions on MR imaging are frequently seen in the Putamen, Caudate nuclei, Globus Pallidus, Thalamus, Midbrain, Pons, Substantia Nigra, subcortical white matter, Centrum Semiovale, Periaqueductal gray matter, Dentate nucleus, Red nucleus and Vermis. Chelating agents are helpful in excretion of copper from the body. Chelating agents include D-Pencillamine, Trientene, Ammonium tetrathiomolybdate and zinc. Liver transplantation is the treatment of choice in fulminant hepatic failure.
Authors and Affiliations
Dr. Rupinderjeet Kaur
Keywords
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