We report a 49-year-old female with hereditary
ceruloplasmin deficiency with
hemosiderosis. There was a family history of the same symptoms; her brother showed
hypoceruloplasminemia and decrease of the serum
copper content. On physical examinations,
dementia,
dysarthria, downbeat nystagmus, sensorineural hearing disturbance,
orthostatic hypotension,
retinitis pigmentosa, diffuse
goiter, and
cerebellar ataxia were noted. Laboratory examinations disclosed
leukopenia,
diabetes mellitus,
hypothyroidism, decrease of
copper content in the serum and urine. Serum
ferritin concentration was remarkably increased. Serum
ceruloplasmin could not be detected. Biopsy of the liver showed that
iron content in the liver was increased. On MRI study, dentate nucleus of the cerebellum, basal ganglia, and the liver showed low intensity in both T1 and T2 weighted images. A
nonsense mutation in the
ceruloplasmin gene was found in this patient. Systemic
iron deposition and tissue damage were considered as caused by deficiency of function of
ceruloplasmin as
ferroxidase. To our knowledge, the characteristic combination of the clinical signs in this patient has not been reported.