2024-03-28T19:48:59Z
https://soar-ir.repo.nii.ac.jp/oai
oai:soar-ir.repo.nii.ac.jp:00003677
2022-12-14T04:40:12Z
461:462
Superficial siderosis associated with aceruloplasminemia. Case report
Matsushima, Akira
Yoshida, Toshikazu
Yoshida, Kunihiro
Ohara, Shinji
Toyoshima, Yasuko
Kakita, Akiyoshi
Ikeda, Shu-ichi
Aceruloplasminemia
Superficial siderosis
Blood-cerebrospinal fluid (CSF) barrier
CSF-brain barrier
Ceruloplasmin
Macrophage
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.
Article
JOURNAL OF THE NEUROLOGICAL SCIENCES. 339(41641):231-234 (2014)
journal article
ELSEVIER SCIENCE BV
2014-04-15
application/pdf
JOURNAL OF THE NEUROLOGICAL SCIENCES
41641
339
231
234
0022-510X
AA00703265
https://soar-ir.repo.nii.ac.jp/record/3677/files/Superficial_siderosis_associated_aceruloplasminemia.pdf
eng
24607334
https://pubmed.ncbi.nlm.nih.gov/24607334
10.1016/j.jns.2014.02.014
https://doi.org/10.1016/j.jns.2014.02.014
Copyright© 2014 Elsevier B.V.