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Rare co-occurrence of multiple sclerosis and Wilson’s disease – case report

BACKGROUND: Wilson’s disease is a hereditary disorder of copper metabolism resulting mainly in hepatic, neurological, and psychiatric symptoms. Multiple sclerosis (MS) is an immune-mediated demyelinating disease affecting the central nervous system (CNS). The co-occurrence of these two, although not...

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Autores principales: Despotov, Katalin, Klivényi, Péter, Nagy, István, Pálvölgyi, Attila, Vécsei, László, Rajda, Cecília
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9109366/
https://www.ncbi.nlm.nih.gov/pubmed/35578211
http://dx.doi.org/10.1186/s12883-022-02691-5
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author Despotov, Katalin
Klivényi, Péter
Nagy, István
Pálvölgyi, Attila
Vécsei, László
Rajda, Cecília
author_facet Despotov, Katalin
Klivényi, Péter
Nagy, István
Pálvölgyi, Attila
Vécsei, László
Rajda, Cecília
author_sort Despotov, Katalin
collection PubMed
description BACKGROUND: Wilson’s disease is a hereditary disorder of copper metabolism resulting mainly in hepatic, neurological, and psychiatric symptoms. Multiple sclerosis (MS) is an immune-mediated demyelinating disease affecting the central nervous system (CNS). The co-occurrence of these two, although not unheard of in literature, is still considered to be very rare and can give rise to diagnostic difficulties. Also, comorbidity in MS highly influences quality of life and disease progression, which makes the timely diagnosis and treatment of these conditions essential. CASE PRESENTATION: The aim of this study is to present a patient exhibiting symptoms of both MS and Wilson’s disease, as well as to conduct a detailed review of previously reported cases. The patient’s neurological symptoms (sensory disorder) as well as MRI and CSF findings were characteristic for MS. The diagnosis of MS preceded that of Wilson’s disease and was relatively mild in course. Currently, the patient receives cladribine as an immunomodulatory treatment after escalation from glatiramer acetate therapy. Apart from one episode of acute hepatic decompensation, during which transfusion, albumin supplementation and diuretic treatment was necessary, Wilson’s disease manifested as chronic impairment of liver function. The diagnosis of Wilson’s disease was established by the analysis of serum coeruloplasmin levels, histological examination and genetic findings. Continuous oral penicillamine therapy led to the slow normalization of hepatic function and significant amelioration of the patient’s symptoms. Correlating with cases previously reported, the course of MS was relatively mild, and like in three out of four other known cases, the symptoms of Wilson’s disease were mostly restricted to hepatic dysfunction. CONCLUSION: The case presented in our report is similar to those reported before. The co-occurrence of the two diseases seems to be more a coincidence than a sharing of common factors in their pathogenesis; however, they are considered to influence one another. Regarding rare co-occurrences such as this one, every new case is of high importance, as it enables a better evaluation and understanding of the clinical presentations that are more characteristic of these cases, thus aiding the estimation of disease course as well as possible therapeutic choices.
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spelling pubmed-91093662022-05-17 Rare co-occurrence of multiple sclerosis and Wilson’s disease – case report Despotov, Katalin Klivényi, Péter Nagy, István Pálvölgyi, Attila Vécsei, László Rajda, Cecília BMC Neurol Case Report BACKGROUND: Wilson’s disease is a hereditary disorder of copper metabolism resulting mainly in hepatic, neurological, and psychiatric symptoms. Multiple sclerosis (MS) is an immune-mediated demyelinating disease affecting the central nervous system (CNS). The co-occurrence of these two, although not unheard of in literature, is still considered to be very rare and can give rise to diagnostic difficulties. Also, comorbidity in MS highly influences quality of life and disease progression, which makes the timely diagnosis and treatment of these conditions essential. CASE PRESENTATION: The aim of this study is to present a patient exhibiting symptoms of both MS and Wilson’s disease, as well as to conduct a detailed review of previously reported cases. The patient’s neurological symptoms (sensory disorder) as well as MRI and CSF findings were characteristic for MS. The diagnosis of MS preceded that of Wilson’s disease and was relatively mild in course. Currently, the patient receives cladribine as an immunomodulatory treatment after escalation from glatiramer acetate therapy. Apart from one episode of acute hepatic decompensation, during which transfusion, albumin supplementation and diuretic treatment was necessary, Wilson’s disease manifested as chronic impairment of liver function. The diagnosis of Wilson’s disease was established by the analysis of serum coeruloplasmin levels, histological examination and genetic findings. Continuous oral penicillamine therapy led to the slow normalization of hepatic function and significant amelioration of the patient’s symptoms. Correlating with cases previously reported, the course of MS was relatively mild, and like in three out of four other known cases, the symptoms of Wilson’s disease were mostly restricted to hepatic dysfunction. CONCLUSION: The case presented in our report is similar to those reported before. The co-occurrence of the two diseases seems to be more a coincidence than a sharing of common factors in their pathogenesis; however, they are considered to influence one another. Regarding rare co-occurrences such as this one, every new case is of high importance, as it enables a better evaluation and understanding of the clinical presentations that are more characteristic of these cases, thus aiding the estimation of disease course as well as possible therapeutic choices. BioMed Central 2022-05-16 /pmc/articles/PMC9109366/ /pubmed/35578211 http://dx.doi.org/10.1186/s12883-022-02691-5 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Despotov, Katalin
Klivényi, Péter
Nagy, István
Pálvölgyi, Attila
Vécsei, László
Rajda, Cecília
Rare co-occurrence of multiple sclerosis and Wilson’s disease – case report
title Rare co-occurrence of multiple sclerosis and Wilson’s disease – case report
title_full Rare co-occurrence of multiple sclerosis and Wilson’s disease – case report
title_fullStr Rare co-occurrence of multiple sclerosis and Wilson’s disease – case report
title_full_unstemmed Rare co-occurrence of multiple sclerosis and Wilson’s disease – case report
title_short Rare co-occurrence of multiple sclerosis and Wilson’s disease – case report
title_sort rare co-occurrence of multiple sclerosis and wilson’s disease – case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9109366/
https://www.ncbi.nlm.nih.gov/pubmed/35578211
http://dx.doi.org/10.1186/s12883-022-02691-5
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