Cargando…
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...
Autores principales: | , , , , , , , |
---|---|
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 |
_version_ | 1784870930733858816 |
---|---|
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. |
format | Online Article Text |
id | pubmed-9845570 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT benkiraneadam casereportmotorneurondiseasephenotypeassociatedwithsymptomaticcopperdeficiencychallengingdiagnosisandtreatment AT warlopthibault casereportmotorneurondiseasephenotypeassociatedwithsymptomaticcopperdeficiencychallengingdiagnosisandtreatment AT ivanoiuadrian casereportmotorneurondiseasephenotypeassociatedwithsymptomaticcopperdeficiencychallengingdiagnosisandtreatment AT baretpierre casereportmotorneurondiseasephenotypeassociatedwithsymptomaticcopperdeficiencychallengingdiagnosisandtreatment AT wiameelsa casereportmotorneurondiseasephenotypeassociatedwithsymptomaticcopperdeficiencychallengingdiagnosisandtreatment AT haufroidvincent casereportmotorneurondiseasephenotypeassociatedwithsymptomaticcopperdeficiencychallengingdiagnosisandtreatment AT duprezthierry casereportmotorneurondiseasephenotypeassociatedwithsymptomaticcopperdeficiencychallengingdiagnosisandtreatment AT hantsonphilippe casereportmotorneurondiseasephenotypeassociatedwithsymptomaticcopperdeficiencychallengingdiagnosisandtreatment |