We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family.
- Authors
Morita, Hiroshi; Ikeda, Shu-Ichi; Yamamoto, Kanji; Morita, Sayuri; Yoshida, Kunihiro; Nomoto, Shozo; Kato, Masahiro; Yanagisawa, Nobuo; Morita, H; Ikeda, S; Yamamoto, K; Morita, S; Yoshida, K; Nomoto, S; Kato, M; Yanagisawa, N
- Abstract
A hereditary ceruloplasmin deficiency associated with severe iron deposition in visceral organ and brain tissues found on histopathological examination at autopsy is discussed. Three siblings of consanguineous Japanese parents were studied. Their clinical symptoms were progressive dementia, extrapyramidal disorders, cerebellar ataxia, and diabetes mellitus, all of which appeared when they were between 30 and 50 years old. All had serum ceruloplasmin deficiencies and increased serum ferritin concentrations. The dentate nucleus, thalamus, putamen, caudate nucleus, and liver of each one showed low signal intensities on T1- and T2-weighted magnetic resonance images. Examination of the central nervous system revealed severe destruction of the basal ganglia and dentate nucleus, with considerable iron deposition in neuronal and glial cells, whereas the cerebral cortex showed mild iron deposition in glial cells without neuronal involvement. An electron microscopic study with energy-dispersive x-ray analysis showed iron depositions in the hepatocytes, of both the neural and glial cells of the brain. We consider this a new disease entity because of the primary ceruloplasmin deficiency.
- Subjects
JAPAN; COPPER analysis; IRON analysis; BLOOD proteins; BRAIN; COMPUTED tomography; GENEALOGY; GENETIC disorders; GENETIC techniques; GLOBULINS; HEMOSIDEROSIS; LIVER; MAGNETIC resonance imaging
- Publication
Annals of Neurology, 1995, Vol 37, Issue 5, p646
- ISSN
0364-5134
- Publication type
journal article
- DOI
10.1002/ana.410370515