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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7016193/ https://www.ncbi.nlm.nih.gov/pubmed/32118011 http://dx.doi.org/10.3389/fmed.2020.00026 |
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author | Žigrai, Miroslav Vyskočil, Milan Tóthová, Andrea Vereš, Peter Bluska, Peter Valkovič, Peter |
author_facet | Žigrai, Miroslav Vyskočil, Milan Tóthová, Andrea Vereš, Peter Bluska, Peter Valkovič, Peter |
author_sort | Žigrai, Miroslav |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-7016193 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-70161932020-02-28 Late-Onset Wilson's Disease Žigrai, Miroslav Vyskočil, Milan Tóthová, Andrea Vereš, Peter Bluska, Peter Valkovič, Peter Front Med (Lausanne) Medicine 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. Frontiers Media S.A. 2020-02-06 /pmc/articles/PMC7016193/ /pubmed/32118011 http://dx.doi.org/10.3389/fmed.2020.00026 Text en Copyright © 2020 Žigrai, Vyskočil, Tóthová, Vereš, Bluska and Valkovič. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Medicine Žigrai, Miroslav Vyskočil, Milan Tóthová, Andrea Vereš, Peter Bluska, Peter Valkovič, Peter Late-Onset Wilson's Disease |
title | Late-Onset Wilson's Disease |
title_full | Late-Onset Wilson's Disease |
title_fullStr | Late-Onset Wilson's Disease |
title_full_unstemmed | Late-Onset Wilson's Disease |
title_short | Late-Onset Wilson's Disease |
title_sort | late-onset wilson's disease |
topic | Medicine |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7016193/ https://www.ncbi.nlm.nih.gov/pubmed/32118011 http://dx.doi.org/10.3389/fmed.2020.00026 |
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