Deferasirox Might Be Effective for Microcytic Anemia and Neurological Symptoms Associated with Aceruloplasminemia: A Case Report and Review of the Literature

  • Miyake Zenshi
    Department of Neurology, Faculty of Medicine, University of Tsukuba, Japan
  • Nakamagoe Kiyotaka
    Department of Neurology, Faculty of Medicine, University of Tsukuba, Japan
  • Yoshida Kunihiro
    Division of Neurogenetics, Department of Brain Research, Shinshu University School of Medicine, Japan
  • Kondo Tadashi
    Department of Digestive Surgery, Faculty of Medicine, University of Tsukuba, Japan
  • Tamaoka Akira
    Department of Neurology, Faculty of Medicine, University of Tsukuba, Japan

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Abstract

<p>The patient was a 64-year-old man presented with difficulty in walking, articulation, and swallowing, as well as cognitive impairment. He had refractory microcytic anemia and diabetes mellitus. His serum levels of iron, copper, and ceruloplasmin were low. Magnetic resonance imaging suggested iron deposition in the basal ganglia, thalami, cerebellar dentate nuclei, and cerebral and cerebellar cortices. He was diagnosed with aceruloplasminemia after a ceruloplasmin gene analysis. Iron chelation therapy with deferasirox improved his anemia and cerebellar symptoms, which included dysarthria and limb ataxia. The present study and previous reports indicate that cerebellar symptoms with aceruloplasminemia might respond to deferasirox in less than one year. </p>

Journal

  • Internal Medicine

    Internal Medicine 59 (14), 1755-1761, 2020-07-15

    The Japanese Society of Internal Medicine

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