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 magneti...

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Autores principales: Daida, Kensuke, Nishioka, Kenya, Li, Yuanzhe, Nakajima, Sho, Tanaka, Ryota, Hattori, Nobutaka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643183/
https://www.ncbi.nlm.nih.gov/pubmed/28824062
http://dx.doi.org/10.2169/internalmedicine.8462-16
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author Daida, Kensuke
Nishioka, Kenya
Li, Yuanzhe
Nakajima, Sho
Tanaka, Ryota
Hattori, Nobutaka
author_facet Daida, Kensuke
Nishioka, Kenya
Li, Yuanzhe
Nakajima, Sho
Tanaka, Ryota
Hattori, Nobutaka
author_sort Daida, Kensuke
collection PubMed
description 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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spelling pubmed-56431832017-10-18 CSF1R Mutation p.G589R and the Distribution Pattern of Brain Calcification Daida, Kensuke Nishioka, Kenya Li, Yuanzhe Nakajima, Sho Tanaka, Ryota Hattori, Nobutaka Intern Med Case Report 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. The Japanese Society of Internal Medicine 2017-08-21 2017-09-15 /pmc/articles/PMC5643183/ /pubmed/28824062 http://dx.doi.org/10.2169/internalmedicine.8462-16 Text en Copyright © 2017 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/ The Internal Medicine is an Open Access article distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Daida, Kensuke
Nishioka, Kenya
Li, Yuanzhe
Nakajima, Sho
Tanaka, Ryota
Hattori, Nobutaka
CSF1R Mutation p.G589R and the Distribution Pattern of Brain Calcification
title CSF1R Mutation p.G589R and the Distribution Pattern of Brain Calcification
title_full CSF1R Mutation p.G589R and the Distribution Pattern of Brain Calcification
title_fullStr CSF1R Mutation p.G589R and the Distribution Pattern of Brain Calcification
title_full_unstemmed CSF1R Mutation p.G589R and the Distribution Pattern of Brain Calcification
title_short CSF1R Mutation p.G589R and the Distribution Pattern of Brain Calcification
title_sort csf1r mutation p.g589r and the distribution pattern of brain calcification
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643183/
https://www.ncbi.nlm.nih.gov/pubmed/28824062
http://dx.doi.org/10.2169/internalmedicine.8462-16
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