Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
CASE REPORTS
CSF1R Mutation p.G589R and the Distribution Pattern of Brain Calcification
Kensuke DaidaKenya NishiokaYuanzhe LiSho NakajimaRyota TanakaNobutaka Hattori
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JOURNALS OPEN ACCESS

2017 Volume 56 Issue 18 Pages 2507-2512

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Abstract

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.

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© 2017 by The Japanese Society of Internal Medicine
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