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Case report: Motor neuron disease phenotype associated with symptomatic copper deficiency: Challenging diagnosis and treatment

Copper deficiency is an acquired condition that can lead to neurologic dysfunctions, such as myelopathy, motor neuron impairment, polyneuropathy, cognitive impairment, and optic nerve neuropathy. Associated biological findings are low serum copper and ceruloplasmin levels with low copper urinary exc...

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Autores principales: Benkirane, Adam, Warlop, Thibault, Ivanoiu, Adrian, Baret, Pierre, Wiame, Elsa, Haufroid, Vincent, Duprez, Thierry, Hantson, Philippe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9845570/
https://www.ncbi.nlm.nih.gov/pubmed/36686537
http://dx.doi.org/10.3389/fneur.2022.1063803
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author Benkirane, Adam
Warlop, Thibault
Ivanoiu, Adrian
Baret, Pierre
Wiame, Elsa
Haufroid, Vincent
Duprez, Thierry
Hantson, Philippe
author_facet Benkirane, Adam
Warlop, Thibault
Ivanoiu, Adrian
Baret, Pierre
Wiame, Elsa
Haufroid, Vincent
Duprez, Thierry
Hantson, Philippe
author_sort Benkirane, Adam
collection PubMed
description Copper deficiency is an acquired condition that can lead to neurologic dysfunctions, such as myelopathy, motor neuron impairment, polyneuropathy, cognitive impairment, and optic nerve neuropathy. Associated biological findings are low serum copper and ceruloplasmin levels with low copper urinary excretion. We report the case of a previously healthy 59-year-old man who presented a complex neurological picture starting with symptoms and radiological signs consistent with degenerative myelopathy in the presence of persisting low serum copper and ceruloplasmin despite oral and intravenous copper supplementation. Over time, his symptoms evolved into a motor neuron disease evocating an amyotrophic lateral sclerosis (ALS) phenotype. The potential role of copper deficiency is discussed, together with the difficulties in biomonitoring copper supplementation.
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spelling pubmed-98455702023-01-19 Case report: Motor neuron disease phenotype associated with symptomatic copper deficiency: Challenging diagnosis and treatment Benkirane, Adam Warlop, Thibault Ivanoiu, Adrian Baret, Pierre Wiame, Elsa Haufroid, Vincent Duprez, Thierry Hantson, Philippe Front Neurol Neurology Copper deficiency is an acquired condition that can lead to neurologic dysfunctions, such as myelopathy, motor neuron impairment, polyneuropathy, cognitive impairment, and optic nerve neuropathy. Associated biological findings are low serum copper and ceruloplasmin levels with low copper urinary excretion. We report the case of a previously healthy 59-year-old man who presented a complex neurological picture starting with symptoms and radiological signs consistent with degenerative myelopathy in the presence of persisting low serum copper and ceruloplasmin despite oral and intravenous copper supplementation. Over time, his symptoms evolved into a motor neuron disease evocating an amyotrophic lateral sclerosis (ALS) phenotype. The potential role of copper deficiency is discussed, together with the difficulties in biomonitoring copper supplementation. Frontiers Media S.A. 2023-01-04 /pmc/articles/PMC9845570/ /pubmed/36686537 http://dx.doi.org/10.3389/fneur.2022.1063803 Text en Copyright © 2023 Benkirane, Warlop, Ivanoiu, Baret, Wiame, Haufroid, Duprez and Hantson. https://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 Neurology
Benkirane, Adam
Warlop, Thibault
Ivanoiu, Adrian
Baret, Pierre
Wiame, Elsa
Haufroid, Vincent
Duprez, Thierry
Hantson, Philippe
Case report: Motor neuron disease phenotype associated with symptomatic copper deficiency: Challenging diagnosis and treatment
title Case report: Motor neuron disease phenotype associated with symptomatic copper deficiency: Challenging diagnosis and treatment
title_full Case report: Motor neuron disease phenotype associated with symptomatic copper deficiency: Challenging diagnosis and treatment
title_fullStr Case report: Motor neuron disease phenotype associated with symptomatic copper deficiency: Challenging diagnosis and treatment
title_full_unstemmed Case report: Motor neuron disease phenotype associated with symptomatic copper deficiency: Challenging diagnosis and treatment
title_short Case report: Motor neuron disease phenotype associated with symptomatic copper deficiency: Challenging diagnosis and treatment
title_sort case report: motor neuron disease phenotype associated with symptomatic copper deficiency: challenging diagnosis and treatment
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9845570/
https://www.ncbi.nlm.nih.gov/pubmed/36686537
http://dx.doi.org/10.3389/fneur.2022.1063803
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