Early Involvement of the Corpus Callosum in a Patient with Hereditary Diffuse Leukoencephalopathy with Spheroids Carrying the de novo K793T Mutation of CSF1R
| Autor: | Kondo, Yasufumi, Kinoshita, Michiaki, Fukushima, Kazuhiro, Yoshida, Kunihiro, Ikeda, Shu-ichi |
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| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: | |
| Zdroj: | INTERNAL MEDICINE. 52(4):503-506 |
| ISSN: | 0918-2918 |
| Popis: | 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) |
| Databáze: | OpenAIRE |
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