We report a familial case of hereditary ceruloplasmin deficiency (HCD) showing an A-G transition in intron 6 of the ceruloplasmin gene. Clinical features consisted of chorea, cerebellar ataxia, dementia, diabetes mellitus, retinal pigmentation and iron deposition in the liver and brain without copper overload in those organs. The patient’s children and siblings had similar laboratory results, but did not show any neurological abnormalities. She was medicated for diabetes mellitus at 43 years of age, and neurological signs appeared when she was 52 years old. The laboratory findings were anemia, low concentrations of iron and copper in serum and of copper in urine. Ceruloplasmin was not detected in the serum. The iron and copper contents in the liver were 3,580 and 10 μg/g wet tissue, respectively. MRI of the brain showed iron deposition in the basal ganglia, dentate nucleus and thalamus. This case did not show any abnormal increase in copper in the blood and urine following CuSO₄5H₂O oral overloading test. Following the intravenous administration of commercially available fresh-frozen human plasma (FFP) containing ceruloplasmin, the serum iron content increased for several hours due to ferroxidase activity of ceruloplasmin. In the liver, the iron content decreased more with the combined intravenous administration of FFP and deferoxamine than with FFP administration alone. Her neurological symptoms improved following repetitive FFP treatment.

Regional cerebral blood flow (rCBF) was measured in patients with endogenous depression by the single photon emission computed tomography (SPECT) using N‐isopropyl‐p‐[123I] iodoamphetamine (IMP). The subjects were 32 patients with endogenous depression and 20 normal controls. These 32 patients, who were divided into 10 unmedicated group and 22 medicated group, were reexamined when the depressed patients reverted to a euthymic state (remission). The value of rCBF was assessed by the corticocerebellar ratio (CCR), which was expressed as a ratio of activity per pixel in the cerebral regions of interests (ROls) to the activity per pixel in the cerebellum. The depressive patients showed a decrease in rCBF all over the cerebral regions and, especially, the lower rCBF in the left than in the right hemisphere. These changes turned toward normal in a remitted state following treatments, though there was no significant difference in rCBF between the medicated and unmedicated patients. There was a significantly negative correlation between the severity of depressive symptoms and the mean rCBF in a total of patients with depression. These results suggest that psychiatric symptoms in the depressive patients might be related to the left hemispheric dysfunction.

No abstract