Koperdeficiëntieneuropathie: deficiënte rapportering of zeer zeldzaam?

Abstract

Copper deficiency neuropathy: deficient reporting or very rare? Dietary copper is mainly found in grains, vegetables, fish and meat. Copper deficiency occurs as a result of insufficient intake and malabsorption syndromes (e.g. after bariatric surgery or in gluten enteropathies), and may also be facilitated by alcoholism. Copper deficiency can lead to cytopenia, osteoporosis, muscle weakness, skin depigmentation, etc. In contrast, the possible sensorimotor consequences of copper deficiency are often misunderstood and underestimated in clinical practice because of its rarer occurrence in comparison to, for instance, vitamin B12 deficiency. Gait disturbances are the cardinal feature, along with biochemical evidence of hypocupremia and hypoceruloplasminemia. Additional investigations, such as imaging and electrophysiological studies, are not always conclusive for the diagnosis. If the copper deficiency is adequately treated by means of supplementation of copper sulfate and vitamin E, the clinical symptoms are often reversible. The prognosis is primarily influenced by interindividual differences and the timelapse between onset and diagnosis. Three case studies provide the necessary tools to a faster diagnosis of copper deficiency neuropathy.