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 in | Frontiers in medicine Vol. 7; p. 26 |
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| Main Authors | , , , , , |
| Format | Journal Article |
| Language | English |
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Frontiers Media S.A
06.02.2020
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| Abstract | 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. |
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| AbstractList | 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. |
| Author | Valkovič, Peter Tóthová, Andrea Žigrai, Miroslav Vyskočil, Milan Vereš, Peter Bluska, Peter |
| AuthorAffiliation | 2 Department of Internal Medicine, Faculty of Medicine, University Hospital - St. Michael's Hospital, Slovak Medical University , Bratislava , Slovakia 5 2nd Department of Neurology, Faculty of Medicine, University Hospital, Comenius University Bratislava , Bratislava , Slovakia 1 1st Department of Internal Medicine, Faculty of Medicine, University Hospital, Slovak Medical University , Bratislava , Slovakia 3 Medicyt, s.r.o. , Bratislava , Slovakia 4 Rádiológia, s.r.o. , Bratislava , Slovakia |
| AuthorAffiliation_xml | – name: 3 Medicyt, s.r.o. , Bratislava , Slovakia – name: 2 Department of Internal Medicine, Faculty of Medicine, University Hospital - St. Michael's Hospital, Slovak Medical University , Bratislava , Slovakia – name: 5 2nd Department of Neurology, Faculty of Medicine, University Hospital, Comenius University Bratislava , Bratislava , Slovakia – name: 4 Rádiológia, s.r.o. , Bratislava , Slovakia – name: 1 1st Department of Internal Medicine, Faculty of Medicine, University Hospital, Slovak Medical University , Bratislava , Slovakia |
| Author_xml | – sequence: 1 givenname: Miroslav surname: Žigrai fullname: Žigrai, Miroslav organization: 1st Department of Internal Medicine, Faculty of Medicine, University Hospital, Slovak Medical University, Bratislava, Slovakia – sequence: 2 givenname: Milan surname: Vyskočil fullname: Vyskočil, Milan organization: Department of Internal Medicine, Faculty of Medicine, University Hospital - St. Michael's Hospital, Slovak Medical University, Bratislava, Slovakia – sequence: 3 givenname: Andrea surname: Tóthová fullname: Tóthová, Andrea organization: 1st Department of Internal Medicine, Faculty of Medicine, University Hospital, Slovak Medical University, Bratislava, Slovakia – sequence: 4 givenname: Peter surname: Vereš fullname: Vereš, Peter organization: Medicyt, s.r.o., Bratislava, Slovakia – sequence: 5 givenname: Peter surname: Bluska fullname: Bluska, Peter organization: Rádiológia, s.r.o., Bratislava, Slovakia – sequence: 6 givenname: Peter surname: Valkovič fullname: Valkovič, Peter organization: 2nd Department of Neurology, Faculty of Medicine, University Hospital, Comenius University Bratislava, Bratislava, Slovakia |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/32118011$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1148/radiology.135.2.7367613 10.1590/S0004-282X1987000200005 10.1002/hep.30280 10.1038/ng1293-344 10.1016/j.jhep.2011.11.007 10.1016/S0016-5085(97)70097-0 10.1212/01.WNL.0000085871.98174.4E 10.1007/BF02014975 10.1016/j.genhosppsych.2013.08.007 10.1016/B978-0-444-63625-6.00011-2 10.1016/S0140-6736(07)60196-2 10.3748/wjg.v24.i2.290 10.1007/s00330-002-1589-6 10.1053/j.gastro.2007.02.057 10.21037/atm.2019.04.27 10.1002/mds.21985 10.1136/jnnp.54.7.624 10.1038/ng1293-327 10.1177/2045125318759461 10.21037/atm.2019.01.67 10.1038/s41572-018-0018-3 |
| ContentType | Journal Article |
| Copyright | Copyright © 2020 Žigrai, Vyskočil, Tóthová, Vereš, Bluska and Valkovič. Copyright © 2020 Žigrai, Vyskočil, Tóthová, Vereš, Bluska and Valkovič. 2020 Žigrai, Vyskočil, Tóthová, Vereš, Bluska and Valkovič |
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| Keywords | liver metastatic-like changes copper older age Wilson's disease late-onset |
| Language | English |
| License | Copyright © 2020 Žigrai, Vyskočil, Tóthová, Vereš, Bluska and Valkovič. 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. |
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| Notes | 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 |
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| References | Tanzi (B2) 1993; 5 Ferenci (B11) 2007; 132 Akhan (B20) 2002; 12 Bull (B1) 1993; 5 Shribman (B6) 2019; 7 Jacobs (B19) 2003; 61 Ferenci (B3) 2012; 53 Czlonkowska (B10) 2018; 21 Mareček (B4) 1996 Ala (B12) 2007; 369 Sener (B18) 1993; 23 Hitoshi (B17) 1991; 54 Litwin (B7) 2018; 8 Ferenci (B15) 2019; 69 Zimbrean (B9) 2017; 142 Czlonkowska (B14) 2008; 23 Steind (B5) 1997; 113 Harbin (B21) 1980; 135 Medici (B16) 2019; 7 Zimbrean (B8) 2014; 36 Amano (B13) 2018; 24 Cançado (B22) 1987; 45 |
| References_xml | – volume: 135 start-page: 273 year: 1980 ident: B21 article-title: Diagnosis od cirrhosis based on regional changes in hepatic morphology: a radiological and pathological analysis publication-title: Radiology doi: 10.1148/radiology.135.2.7367613 contributor: fullname: Harbin – volume: 45 start-page: 131 year: 1987 ident: B22 article-title: Abdominal ultrasonography in hepatolenticular degeneration. A study of 33 patients publication-title: Arq Neuropsiquiatr. doi: 10.1590/S0004-282X1987000200005 contributor: fullname: Cançado – volume: 69 start-page: 1464 year: 2019 ident: B15 article-title: Age and sex but not ATP7B genotype effectively influence the clinical phenotype of Wilson disease publication-title: Hepatology. doi: 10.1002/hep.30280 contributor: fullname: Ferenci – volume: 5 start-page: 344 year: 1993 ident: B2 article-title: The Wilson disease gene is a copper transporting ATPase with homoogy to the Menkes disease gene publication-title: Nat Genet doi: 10.1038/ng1293-344 contributor: fullname: Tanzi – volume: 53 start-page: 671 year: 2012 ident: B3 article-title: EASL clinical practice guideline: Wilson's disease publication-title: J Hepatol doi: 10.1016/j.jhep.2011.11.007 contributor: fullname: Ferenci – volume: 113 start-page: 212 year: 1997 ident: B5 article-title: Wilson's disease in patients presenting with liver disease: a diagnostic challange publication-title: Gastroenterology doi: 10.1016/S0016-5085(97)70097-0 contributor: fullname: Steind – volume: 61 start-page: 969 year: 2003 ident: B19 article-title: The double panda sign in Wilson disease publication-title: Neurology doi: 10.1212/01.WNL.0000085871.98174.4E contributor: fullname: Jacobs – volume: 23 start-page: 594 year: 1993 ident: B18 article-title: The claustrum on MRI: the bright claustrum as a new sign in Wilson's disease publication-title: Pediatr Radiol. doi: 10.1007/BF02014975 contributor: fullname: Sener – volume: 36 start-page: 53 year: 2014 ident: B8 article-title: Psychiatric aspects of Wilson disease: a review publication-title: Gen Hosp Psychiatry doi: 10.1016/j.genhosppsych.2013.08.007 contributor: fullname: Zimbrean – volume: 142 start-page: 121 year: 2017 ident: B9 article-title: Cognitive and psychiatric symptoms of Wilson disease publication-title: Hand Clin Neurol doi: 10.1016/B978-0-444-63625-6.00011-2 contributor: fullname: Zimbrean – volume: 369 start-page: 397 year: 2007 ident: B12 article-title: Wilson's disease publication-title: Lancet. doi: 10.1016/S0140-6736(07)60196-2 contributor: fullname: Ala – volume: 24 start-page: 290 year: 2018 ident: B13 article-title: Clinically diagnosed late-onset fulminat Wilson's disease without cirrhosis: a case report publication-title: World J Gastroenterol. doi: 10.3748/wjg.v24.i2.290 contributor: fullname: Amano – volume: 12 start-page: 66 year: 2002 ident: B20 article-title: Unusual imaging findings in Wilson's disease publication-title: Eur Radiol doi: 10.1007/s00330-002-1589-6 contributor: fullname: Akhan – volume: 132 start-page: 1294 year: 2007 ident: B11 article-title: Late-onset Wilson's disease publication-title: Gastroenterology doi: 10.1053/j.gastro.2007.02.057 contributor: fullname: Ferenci – volume: 7 start-page: S60 year: 2019 ident: B6 article-title: Clinical presentation of Wilson disease publication-title: Ann Transl Med doi: 10.21037/atm.2019.04.27 contributor: fullname: Shribman – volume-title: Wilsonova Choroba (Hepatolentikulárna degenerácia) year: 1996 ident: B4 contributor: fullname: Mareček – volume: 23 start-page: 896 year: 2008 ident: B14 article-title: Late onset Wilson's disease: therapeutical implications publication-title: Mov Disord doi: 10.1002/mds.21985 contributor: fullname: Czlonkowska – volume: 54 start-page: 624 year: 1991 ident: B17 article-title: Mid-brain pathology of Wilson's disease: MRI analysis of three cases publication-title: J Neurol Neurosurg Psychiatry doi: 10.1136/jnnp.54.7.624 contributor: fullname: Hitoshi – volume: 5 start-page: 327 year: 1993 ident: B1 article-title: The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene publication-title: Nat Genet doi: 10.1038/ng1293-327 contributor: fullname: Bull – volume: 8 start-page: 199 year: 2018 ident: B7 article-title: Psychiatric manifestation in Wilson's disease: possibilities and difficulties for treatment publication-title: Ther Adv Psychopharmacol doi: 10.1177/2045125318759461 contributor: fullname: Litwin – volume: 7 start-page: S58 year: 2019 ident: B16 article-title: Genetics and epigenetics factors of Wilson disease publication-title: Ann Transl Med. doi: 10.21037/atm.2019.01.67 contributor: fullname: Medici – volume: 21 start-page: 4 year: 2018 ident: B10 article-title: Wilson disease publication-title: Nat Rev Dis Primers doi: 10.1038/s41572-018-0018-3 contributor: fullname: Czlonkowska |
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| Title | Late-Onset Wilson's Disease |
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