A 55-year-old female with progressed
dementia,
cerebellar ataxia was reported. There was no family history of the same symptoms although her brothers, sisters and a son showed
hypoceruloplasminemia and decrease of the serum
copper content. On physical examination,
anemia,
dementia,
dysarthria,
torticollis, choreic
involuntary movement of respiratory muscles,
hyperreflexia in extremities and
cerebellar ataxia were noted. Blood analysis revealed microcytic
hypochromic anemia,
diabetes mellitus, decrease of
copper content of the serum and urine. Serum
ferritin concentration was increased. Serum
ceruloplasmin could not be detected. Biopsy of the liver showed that
copper content in the liver was slightly increased and
iron content was remarkably increased. On MRI study, dentate nucleus of the cerebellum, the thalamus, the putamen and the caudate nucleus and the liver showed low intensity in both T1 and T2 weighted images. Based on increased
iron content in the liver, the radiological findings of the brain suggested deposition of
iron in the brain. This deposition was considered as caused by deficiency of function of
ceruloplasmin as
ferroxidase. This disorder is suggested as a new disease due to
ceruloplasmin deficiency different from
Wilson's disease.