@article{oai:soar-ir.repo.nii.ac.jp:00003704, author = {Kondo, Yasufumi and Kinoshita, Michiaki and Fukushima, Kazuhiro and Yoshida, Kunihiro and Ikeda, Shu-ichi}, issue = {4}, journal = {INTERNAL MEDICINE}, month = {}, note = {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., Article, INTERNAL MEDICINE. 52(4):503-506 (2013)}, pages = {503--506}, title = {Early Involvement of the Corpus Callosum in a Patient with Hereditary Diffuse Leukoencephalopathy with Spheroids Carrying the de novo K793T Mutation of CSF1R}, volume = {52}, year = {2013} }