Sensory ataxic neuromyelopathy in acquired copper deficiency

Background: Neurological involvement associated with copper deficiency has been reported recently in humans and may be under-recognized.

Methods: A 65-year-old patient, with past history of gastrectomy 40 years earlier, developed a myelodysplastic syndrome and then subacute onset of progressive gait ataxia and paresthesias in the lower extremities. Serum vitamin B12 level was low but neurological deterioration persisted, despite vitamin replacement therapy and normal cobalamin level. Further diagnostic investigations revealed severe copper deficiency. Copper supplementation led to hematologic improvement and neurological stabilization.

Conclusions: Copper and vitamin B12 deficiency, due to malabsorption as a cause of progressive neuromyelopathy and hematologic manifestations, may coexist.