Early Involvement of the Corpus Callosum in a Patient with Hereditary Diffuse Leukoencephalopathy with Spheroids Carrying the de novo K793T Mutation of CSF1R
スポンサーリンク
概要
- 論文の詳細を見る
We herein report the case of a 41-year-old Japanese man with hereditary diffuse leukoencephalopathy with spheroids (HDLS) who carried the de novo K793T mutation in the colony-stimulating factor 1 receptor gene (CSF1R). He showed a gradual decline of his cognitive and mental functions over the following six months. On brain MRI, a thin corpus callosum with T2- and FLAIR-high signal intensity in the splenium was conspicuous, whereas cerebral deep and periventricular white matter lesions were mild. We propose that a diagnosis of HDLS should be considered in patients with presenile dementia presenting with corpus callosum lesions on MRI, even in cases with a lack of any apparent family history.
- 社団法人 日本内科学会の論文
著者
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Yoshida Kunihiro
Department of Brain Disease Research, Shinshu University School of Medicine, Japan
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Kinoshita Michiaki
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan
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Kondo Yasufumi
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan
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