CEREBRAL HEMOSIDEROSIS RELATED TO HEREDIT ARY CERULOPLASMIN DEFICIENCY - A CLINICAL FAMILIAL STUDY

A 59-year-old patient progressively developed dementia, hallucinations and facial dyskinesia. Brain T1 and T2-weighted MRI images showed low signal intensity on basal ganglia specially striatum, posterior thala mic and dentate nuclei. He had no evidence of ceruloplasmin and a high level of ferritin in the serum. Liver biopsy confirmed accumulation o f iron in the cytoplasm of many hepatocytes. Similar clinical and biol ogical signs were also observed in two brothers. All the three sibling s were homozygous for a hereditary ceruloplasmin deficiency. This new clinico-pathological entity, first described in 1987, is different fro m Wilson's disease, Hallervorden-Spatz's disease and idiopathic hemoch romatosis and linked to a mutation of the ceruloplasmin gene located o n chromosome 3.