Late-Onset Wilson's Disease

Wilson's disease is a rare autosomal recessive disease, caused by impaired secretion of copper into bile due to a defective function of the ATPase 7B enzyme. Clinical manifestation is predominantly hepatic and neurological. Wilson's disease is traditionally considered a disease of children...

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Published inFrontiers in medicine Vol. 7; p. 26
Main Authors Žigrai, Miroslav, Vyskočil, Milan, Tóthová, Andrea, Vereš, Peter, Bluska, Peter, Valkovič, Peter
Format Journal Article
LanguageEnglish
Published Switzerland Frontiers Media S.A 06.02.2020
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Summary:Wilson's disease is a rare autosomal recessive disease, caused by impaired secretion of copper into bile due to a defective function of the ATPase 7B enzyme. Clinical manifestation is predominantly hepatic and neurological. Wilson's disease is traditionally considered a disease of children and young adults. It rarely manifests after 40 years of age. In our case report, we present a 67-year-old female in whom Wilson's disease manifested as tremors of the upper extremities and chin that were originally assessed as part of cerebral atherosclerosis and Parkinson's disease. Only the histological finding of liver steatofibrosis, performed due to suspected metastatic changes of the liver, led in the context of neurological symptoms to correct diagnosis and successful treatment.
Bibliography:Reviewed by: Tomasz Litwin, Institute of Psychiatry and Neurology, Poland; Peter Ferenci, Medical University of Vienna, Austria
Edited by: Esther-Lee Marcus, Herzog Hospital, Israel
This article was submitted to Geriatric Medicine, a section of the journal Frontiers in Medicine
ISSN:2296-858X
2296-858X
DOI:10.3389/fmed.2020.00026