title: Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R.
abstract: 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.
authors: Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan.
authors: Yasufumi
authors: Y
authors: Kondo
authors: Michiaki
authors: M
authors: Kinoshita
authors: Kazuhiro
authors: K
authors: Fukushima
authors: Kunihiro
authors: K
authors: Yoshida
authors: Shu-ichi
authors: S
authors: Ikeda
mesh_terms: D000328:Adult; D003337:Corpus Callosum; D006801:Humans; D056784:Leukoencephalopathies / Q000235:genetics*; D008297:Male; D009154:Mutation; D016186:Receptor, Macrophage Colony-Stimulating Factor / Q000235:genetics*
chemical_list: D016186:Receptor, Macrophage Colony-Stimulating Factor