A case of hereditary ceruloplasmin deficiency with iron deposition in the brain associated with chorea, dementia. diabetes mellitus and retinal pigmentation: Administration of fresh-frozen human plasma

We report a familiar case of hereditary ceruloplasmin deficiency (HCD) show ing an A-G transition in intron 6 of the ceruloplasmin gene. Clinical featu res consisted of chorea, cerebellar ataxia, dementia, diabetes mellitus, re tinal pigmentation and iron deposition in the liver and brain without coppe r overload in those organs. The patient's children and siblings had similar laboratory results, but did not show any neurological abnormalities. She w as medicated for diabetes mellitus at 43 years of age, and neurological sig ns appeared when she was 52 years old. The laboratory findings were anemia, low concentrations of iron a nd copper in serum and of copper in urine. Ce ruloplasmin was not detected in the serum. The iron and copper contents in the liver were 3,580 and 10 mu g/g wet tissue, respectively. MRI of the bra in showed iron deposition in the basal ganglia, dentate nucleus and thalamu s. This case did not show any abnormal increase in copper in the blood and urine following CuSO5H2O oral overloading test. Following the intravenous a dministration of commercially available fresh-frozen human plasma (FFP) con taining ceruloplasmin, the serum iron content increased for several hours d ue to ferroxidase activity of ceruloplasmin. In the liver, the iron content decreased more with the combined intravenous administration of FFP and def eroxamine than with FFP administration alone. Her neurological symptoms imp roved following repetitive FFP treatment.