Is aceruloplasminemia treatable? Combining iron chelation and fresh-frozen plasma treatment.
We report the case of a patient with hereditary ceruloplasmin deficiency due to a novel gene mutation in ceruloplasmin gene (CP), treated with fresh frozen plasma (FFP) and iron chelation therapy. A 59-year-old man with a past history of diabetes was admitted to our department due to progressive gait difficulties and cognitive impairment. Neurological examination revealed a moderate cognitive decline, with mild extrapyramidal symptoms, ataxia, and myoclonus. Brain T2-weighted MR imaging showed bilateral basal ganglia hypointensity with diffuse iron deposition. Increased serum ferritin, low serum copper concentration, undetectable ceruloplasmin, and normal urinary copper excretion were found. The genetic analysis of the CP (OMIM #604290) reported compound heterozygosity for two mutations, namely c.848G > A and c.2689_2690delCT. Treatment with FFP (500 mL i.v./once a week) and administration of iron chelator (Deferoxamine 1000 mg i.v/die for 5 days, followed by Deferiprone 500 mg/die per os) were undertaken. At the 6-month follow-up, clinical improvement of gait instability, trunk ataxia, and myoclonus was observed; brain MRI scan showed no further progression of basal ganglia T2 hypointensity. This case report suggests that the early initiation of combined treatment with FFP and iron chelation may be useful to reduce the accumulation of iron in the central nervous system and to improve the neurological symptoms.
Neurology Unit, Department of Medical and Experimental Sciences, University of Brescia, Piazza Spedali Civili 1, 25100, Brescia, Italy.
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Poli
Neurology Unit, Department of Medical and Experimental Sciences, University of Brescia, Piazza Spedali Civili 1, 25100, Brescia, Italy.
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A
Alberici
Neurology Unit, Poma Hospital, Mantua, Italy.
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P
Buzzi
Genetic Unit, University of Brescia, Brescia, Italy.
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E
Marchina
Neurology Unit, Poma Hospital, Mantua, Italy.
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A
Lanari
Consortium for Human Molecular Genetics, University of Milano-Bicocca, Monza, Italy.
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Arosio
Neurology Unit, Poma Hospital, Mantua, Italy.
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A
Ciccone
Opthalmology Unit, University of Brescia, Brescia, Italy.
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Semeraro
Neuroradiology Unit, University of Brescia, Brescia, Italy.
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R
Gasparotti
Neurology Unit, Department of Medical and Experimental Sciences, University of Brescia, Piazza Spedali Civili 1, 25100, Brescia, Italy.
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Padovani
Neurology Unit, Department of Medical and Experimental Sciences, University of Brescia, Piazza Spedali Civili 1, 25100, Brescia, Italy. bborroni@inwind.it.
Barbara
B
Borroni
D002570:Ceruloplasmin / Q000172:deficiency* / Q000627:therapeutic use; D015913:Chelation Therapy / Q000379:methods*; D003131:Combined Modality Therapy; D006801:Humans; D007501:Iron; D019189:Iron Metabolism Disorders / Q000188:drug therapy; D008297:Male; D008875:Middle Aged; D019636:Neurodegenerative Diseases / Q000188:drug therapy; D010949:Plasma; D010951:Plasma Exchange / Q000379:methods*
D007501:Iron; D002570:Ceruloplasmin
Aceruloplasmin; Iron chelation; Movement disorders; Neurodegenerative disorders