CSF1R Mutation p.G589R and the Distribution Pattern of Brain Calcification


We herein report the case of a 47-year-old female with the colony-stimulating factor 1 receptor (CSF1R) mutation p.G589R, which is related to hereditary leukoencephalopathy with axonal spheroid (HDLS). The patient presented with an early-onset cognitive decline and progressive aphasia. Brain magnetic resonance imaging revealed HDLS-related alterations. In addition, brain computed tomography revealed interspersed spotty calcifications in the frontal and parietal subcortical white matter, while a characteristic "stepping stone" appearance was observed in the frontal pericallosal regions. Our findings emphasize the importance of calcification appearances in establishing an HDLS diagnosis and in screening for CSF1R mutations.

DOI: 10.2169/internalmedicine.8462-16

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@inproceedings{Daida2017CM, title={ CSF1R Mutation p.G589R and the Distribution Pattern of Brain Calcification}, author={Kensuke Daida and Kenya Nishioka and Yuanzhe Li and Sho Nakajima and Ryota Tanaka and Nobutaka Hattori}, booktitle={Internal medicine}, year={2017} }