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成人起病的伴有轴突球状体和色素性神经胶质细胞的白质脑病:一例报告

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: A case report.

作者信息

Kang Seongsu, Kim Da Mi, Lee In Ho, Song Chang June

机构信息

Department of Radiology, Chungnam National University Hospital, Chungnam National University School of Medicine, 282, Munhwa-ro, Jung-gu, Daejeon 35015, Republic of Korea.

出版信息

Radiol Case Rep. 2019 Feb 18;14(4):514-517. doi: 10.1016/j.radcr.2019.01.021. eCollection 2019 Apr.

Abstract

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare neurodegenerative disorder characterized by cerebral white matter abnormalities, myelin loss, and axonal swellings. ALSP is caused by mutations in colony stimulating factor 1 receptor gene. We report an ASLP patient with asymptomatic intracranial calcifications distributed in white matter found incidentally in a health screening.

摘要

成人起病的伴轴突球状体和色素性神经胶质细胞的白质脑病(ALSP)是一种罕见的神经退行性疾病,其特征为脑白质异常、髓鞘丢失和轴突肿胀。ALSP由集落刺激因子1受体基因突变引起。我们报告1例在健康筛查中偶然发现白质有无症状颅内钙化的ALSP患者。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7f9a/6379521/fc313f89d558/gr1.jpg

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