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
Related Articles
- EP ID EP299834
- DOI -
- Views 143
- Downloads 0
Clinico-Radiological Presentation of Cerebrotendinous Xanthomatosis (CTX) in Two Sisters of an Indian Family with Review of Literature
Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessively inherited, treatable, metabolic lipid storage disorder, presenting with early nonneurological manifestations (intellectual disability, chronic intractable...
Imaging in Disseminated Cysticercosis: A Case Report and Review of Literature
Cysticercosis is caused by the larval form of the pork tapeworm Taenia solium. It is endemic in most parts of Asia and is transmitted by the feco-oral route. It is the most common parasitic infestation of the central ner...
Imaging Features of Pancreaticopleural Fistula - A Frequently Missed Complication of Chronic Pancreatitis
Pancreaticopleural Fistula (PPF) is one of the rare complications of acute and chronic pancreatitis, more commonly chronic pancreatitis. It is characterized by the presence of high amylase and lipase levels in pleural fl...
Study of Abdominal Manifestations by USG in HIV/AIDS Patients
The major target of HIV is the immune system and the abdominal pathologies are second most commonly found in patients of AIDS after pulmonary manifestations. These abdominal manifestations are on increase may be due to i...
Multifocal Tumefactive Demyelination - Magnetic Resonance Imaging Features
Tumefactive Demyelinating Lesion (TDL), also referred as Monofocal Acute Inflammatory Demyelination (MAID), is a focal aggressive demyelination, usually manifesting as a solitary lesion or as few separate lesions greater...