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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Detalles Bibliográficos
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
Descripción
Sumario: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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