抄録
We report the case of aceruloplasminemia in a patient having insulin dependent-diabetes mellitus (IDDM), cerebellar ataxia and retinal degeneration. It should be noted that the parents of this patient were related to each other as cousins.
Blood analyses revealed microcytic hypochromic anemia, a decrease of serum Fe and Cu, an increase of serum ferritin, and a deficiency of ceruloplasmin. An MRI study revealed that the basal ganglia of the brain, red nuclei, substantia nigra and dentate nuclei of the cerebellum showed low signals in both T1-and T2-weighted images, indicating the deposition of paramagnetic material (i. e. iron and copper). The liver showed high density in the CT scan and low signals in the T1-weighted image of the MRI, whereas the pancreas showed normal density both in the CT and the MRI. A liver microscopy showed hemosiderin lying within the parenchymal cells. The copper content in the patient's liver was slightly increased (15.9μg/g), and the iron was remarkably increased (3951.2μg/g), compared to normal levels.
There was no history of iron overloading, and ceruloplasmin plays a very important role as ferroxidase in iron metabolism. This case was therefore suspected to be an iron metabolism disorder due to aceruloplasminemia, and distinct from Wilson's disease and Menke's disease.
