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.
['Poli|L|L|', 'Alberici|A|A|', 'Buzzi|P|P|', 'Marchina|E|E|', 'Lanari|A|A|', 'Arosio|C|C|', 'Ciccone|A|A|', 'Semeraro|F|F|', 'Gasparotti|R|R|', 'Padovani|A|A|', 'Borroni|Barbara|B|']
D002570:Ceruloplasmin D015913:Chelation Therapy D003131:Combined Modality Therapy D006801:Humans D007501:Iron D019189:Iron Metabolism Disorders D008297:Male D008875:Middle Aged D019636:Neurodegenerative Diseases D010949:Plasma D010951:Plasma Exchange
Iron chelation Aceruloplasmin Movement disorders Neurodegenerative disorders