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Use of desferrioxamine in the treatment of aceruloplasminemia
Author(s) -
Miyajima Hiroaki,
Takahashi Yoshitomo,
Kamata Tadashi,
Shimizu Hideaki,
Sakai Naoki,
Gitlin Jonathan D.
Publication year - 1997
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410410318
Subject(s) - neurodegeneration , chelation therapy , basal ganglia , medicine , central nervous system , deferasirox , disease , thalassemia
Abstract Aceruloplasminemia is a newly recognized autosomal recessive disorder of iron metabolism resulting in neurodegeneration of the retina and basal ganglia. We report here on the treatment of a patient who developed progressive extrapyramidal symptoms that included blepharospasm, grimacing, and rigidity associated with increased iron deposition in the brain and visceral organs. Treatment for 10 months with the iron chelator desferrioxamine decreased brain iron stores, prevented progression of the neurological symptoms, and reduced plasma lipid peroxidation. These data suggest that early treatment with this chelator may be useful in such patients to diminish central nervous system iron accumulation and to prevent or ameliorate neurological symptoms associated with neurodegeneration.