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Aceruloplasminemia with progressive atrophy without brain iron overload: treatment with oral chelation
  1. Frank M Skidmore (frank.skidmore{at}neurology.ufl.edu)
  1. University of Florida School of Medicine, Uruguay
    1. Valeria Drago (valeria.drago{at}neurology.ufl.edu)
    1. University of Florida, United States
      1. Paul Foster (paul.foster{at}neurology.ufl.edu)
      1. University of Florida School of Medicine, United States
        1. Ilona Schmalfuss
        1. North Florida/South Georgia VA Medical Center, United States
          1. K M Heilman (heilman{at}neurology.ufl.edu)
          1. University of Florida School of Medicine and Malcom Randall VA Medical Center, United States
            1. Richard Streiff (richard.streiff{at}va.gov)
            1. University of Florida School of Medicine and North Florida/South Georgia VA Medical Center, United States

              Abstract

              Background: Hereditary aceruloplasminemia is a disorder of iron metabolism characterized by iron accumulation in brain and other visceral organs. In previously reported cases, individuals with the disorder were noted to have evidence of iron accumulation in the brain. Oral chelating agents have not been used in neurologic diseases of iron metabolism.

              Methods: A 54 year old woman who presented with ataxia, lower extremity spasticity, and chorea was evaluated for evidence of source of neurologic dysfunction.

              Results: Blood studies revealed no detectable ceruloplasmin. Marked iron overload was defined by a liver biopsy, which showed a varigated pattern consistent with a primary cause of iron overload. Review of MRI scans showed progressive brain atrophy without visible iron accumulation occurring over a five year period. History suggested neurodegeneration was coincident with aggressive oral iron replacement. Oral chelation improved many symptoms.

              Conclusions: Our findings in this patient suggests that disorders of iron transport such as aceruloplasminemia can be a cause of neurologic symptoms such as chorea and cognitive decline as well as progressive neurodegeneration in the absence of visible iron on MRI scan. We found that oral iron chelation was effective at improving symptoms.

              • Aceruloplasminemia
              • Chelation
              • Dementia
              • Iron Overload Syndrome
              • Movement Disorder

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