Effectiveness of oral iron chelator treatment with deferasirox in an aceruloplasminemia patient with a novel ceruloplasmin gene mutation.

Abstract

A 59-year-old man presented with refractory anemia, choreoathetosis in the left upper extremity, an unsteady gait and cognitive dysfunction. The laboratory findings showed a marked decrease in ceruloplasmin. Magnetic resonance images revealed iron deposition in the brain and visceral organs. Iron accumulation was also observed in hepatocytes. Genetic analyses of the ceruloplasmin gene revealed a novel homozygous mutation of c.2185 delC in exon 12. The oral chelator deferasirox was effective in treating the left-side choreoathetosis and unsteady gait. Providing early treatment using deferasirox may be useful for preventing the progression of symptomatic neurological dysfunction.

• Authors: Yasuhiro Suzuki, Kosuke Yoshida, Yoko Aburakawa, Kenji Kuroda, Takashi Kimura, Tatsuhiro Terada, Satoshi Kono, Hiroaki Miyajima, Osamu Yahara
• Journal: Internal medicine (Tokyo, Japan) (Intern Med) Vol. 52 Issue 13 Pg. 1527-30 ( 2013) ISSN: 1349-7235 [Electronic] Japan
• PMID: 23812204 (Publication Type: Case Reports, Journal Article)

Chemical References

• Benzoates
• Iron Chelating Agents
• Triazoles
• Ceruloplasmin
• Deferasirox

Topics

• Administration, Oral
• Benzoates (administration & dosage)
• Ceruloplasmin (deficiency, genetics)
• Deferasirox
• Humans
• Iron Chelating Agents (administration & dosage)
• Iron Metabolism Disorders (diagnosis, drug therapy, genetics)
• Male
• Middle Aged
• Mutation (genetics)
• Neurodegenerative Diseases (diagnosis, drug therapy, genetics)
• Treatment Outcome
• Triazoles (administration & dosage)