HEREDITARY CERULOPLASMIN DEFICIENCY WITH HEMOSIDEROSIS

Hereditary ceruloplasmin deficiency with hemosiderosis (aceruloplasmin emia) is a new disease characterized by systemic hemosiderosis, diabet es mellitus, neurological abnormalities and pigment degeneration of th e retina. Loss of the ferroxidase activity of ceruloplasmin results in systemic iron deposition and tissue damage. Neuroimaging studies reve al iron deposition in basal ganglia and in the red and dentate nuclei. Cerebellar ataxia, extrapyramidal signs and dementia develop after mi ddle age. We report a patient with undetectable serum ceruloplasmin le vels and the above clinical manifestations. Sequence analysis of the c DNA of ceruloplasmin from this patient revealed an insertion of adenin e in exon 3; this produced a premature stop codon.