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集落刺激因子1受体（CSF1R）突变p.G589R与脑钙化的分布模式

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

作者信息

Daida Kensuke, Nishioka Kenya, Li Yuanzhe, Nakajima Sho, Tanaka Ryota, Hattori Nobutaka

机构信息

Department of Neurology, Juntendo University School of Medicine, Japan.

出版信息

Intern Med. 2017 Sep 15;56(18):2507-2512. doi: 10.2169/internalmedicine.8462-16. Epub 2017 Aug 21.

DOI:10.2169/internalmedicine.8462-16
PMID:28824062
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5643183/
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.

摘要

我们在此报告一例47岁女性，其携带集落刺激因子1受体（CSF1R）突变p.G589R，该突变与伴轴突球状体的遗传性白质脑病（HDLS）相关。患者表现为早发性认知衰退和进行性失语。脑磁共振成像显示出与HDLS相关的改变。此外，脑计算机断层扫描显示额叶和顶叶皮质下白质有散在的点状钙化，而在额叶胼胝体周围区域观察到特征性的“铺路石”样外观。我们的研究结果强调了钙化表现对于HDLS诊断及CSF1R突变筛查的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5268/5643183/3db538d3aa1a/1349-7235-56-2507-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5268/5643183/3db538d3aa1a/1349-7235-56-2507-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5268/5643183/3db538d3aa1a/1349-7235-56-2507-g001.jpg

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