학술논문

Case report: Motor neuron disease phenotype associated with symptomatic copper deficiency: Challenging diagnosis and treatment
Document Type
article
Source
Frontiers in Neurology, Vol 13 (2023)
Subject
copper deficiency
myelopathy
cerulopasmin
motoneuron
amyotrophic lateral sclerosis (ALS)
Neurology. Diseases of the nervous system
RC346-429
Language
English
ISSN
1664-2295
Abstract
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.