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

Department of Neurology, Faculty of Medicine, University of Tsukuba, Japan. Division of Neurogenetics, Department of Brain Research, Shinshu University School of Medicine, Japan. Department of Digestive Surgery, Faculty of Medicine, University of Tsukuba, Japan.

Internal medicine (Tokyo, Japan). 2020;(14):1755-1761

Abstract

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.

Methodological quality

Publication Type : Case Reports ; Review

Metadata