Copper Deficiency Myelopathy

BACKGROUND: In humans, Menkes disease is the well-recognized neurological disorder due to inherited copper deficiency. Myelopathy due to acquired copper deficiency is not a well-recognized entity in humans, although myelopathy due to copper deficiency is well documented in some animal species. PATIENTS: We describe 3 patients who developed a progressive spastic-ataxic gait with proprioceptive deficits. All patients had a severe reduction in serum ceruloplasmin and copper levels. RESULTS: All patients had evidence of posterior column dysfunction clinically and on somatosensory evoked potential studies. Two had a signal change in the posterior column on magnetic resonance imaging of the spinal cord. CONCLUSION: Patients presenting with otherwise unexplained myelopathies should have their serum ceruloplasmin level measured.