title: Superficial siderosis associated with aceruloplasminemia. Case report.
abstract: A 63-year-old woman with a past history of right subdural hematoma (SDH) at the age of 61 years was referred to our hospital under a suspicion of aceruloplasminemia (ACP). A neurological examination revealed very mild cognitive impairment and cerebellar ataxia. Blood chemistry data showed deficient ceruloplasmin (Cp), decreased copper, and increased ferritin. A nonsense mutation (c.2630G>A, p.Trp858Ter) was detected in the Cp gene. Brain magnetic resonance imaging (MRI) showed marked hypointensity at the surface of the cerebrum, cerebellum, and brainstem bilaterally, in addition to the bilateral basal ganglia, thalamus, and dentate nucleus, suggesting the coexistence of ACP and superficial siderosis (SS). The characteristics of SS in ACP have not been examined neuroradiologically or neuropathologically in great detail, while SDH and its curative surgery are known to cause SS. The distribution of the hypointensity areas on MRI was expanded bilaterally to the subtentorial areas of this patient, which was much more widespread than observed in typical SS after SDH. We speculate that the underlying ACP may expand the SS induced by SDH. Cp would accelerate iron export from the brain via the blood-cerebrospinal fluid (CSF) barrier, or CSF-brain barrier when excessive iron is loaded into the subarachnoid space.
authors.affiliation: Department of Neurology and Rheumatology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Matsushima
authors.affiliation: Department of Neurology, Fujimi Kogen Hospital, 11100 Ochiai, Fujimi 399-0214, Japan.
authors.forename: Toshikazu
authors.initials: T
authors.lastname: Yoshida
authors.affiliation: Division of Neurogenetics, Department of Brain Disease Research, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan. Electronic address: kyoshida@shinshu-u.ac.jp.
authors.forename: Kunihiro
authors.initials: K
authors.lastname: Yoshida
authors.affiliation: Department of Neurology, Matsumoto Medical Center, Chushin-Matsumoto Hospital, Kotobuki 811, Matsumoto 390-0021, Japan.
authors.forename: Shinji
authors.initials: S
authors.lastname: Ohara
authors.affiliation: Department of Pathology, Brain Research Institute, University of Niigata, 1 Asahimachi, Chuo-ku, Niigata 951-8585, Japan.
authors.forename: Yasuko
authors.initials: Y
authors.lastname: Toyoshima
authors.affiliation: Department of Pathology, Brain Research Institute, University of Niigata, 1 Asahimachi, Chuo-ku, Niigata 951-8585, Japan.
authors.forename: Akiyoshi
authors.initials: A
authors.lastname: Kakita
authors.affiliation: Department of Neurology and Rheumatology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan.
authors.forename: Shu-Ichi
authors.initials: S
authors.lastname: Ikeda
mesh_terms: D002570:Ceruloplasmin / Q000172:deficiency* / Q000235:genetics; D005260:Female; D006801:Humans; D019189:Iron Metabolism Disorders / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D019636:Neurodegenerative Diseases / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D012806:Siderosis / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics
chemical_list: D002570:Ceruloplasmin
keywords: Aceruloplasminemia; Blood–cerebrospinal fluid (CSF) barrier; CSF–brain barrier; Ceruloplasmin; Macrophage; Superficial siderosis