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Leukoencephalopathy With Cerebral Calcifications and Cysts With Novel Mutations Presenting With Bilateral Giant Cysts.

作者信息

Wang Ziyu, Liu Yingchao, Yao Zhigang, Liu Xiaohui

机构信息

Qilu Hospital of Shandong University, Shandong, China.

Department of Neurosurgery, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Shandong, China.

出版信息

J Clin Neurol. 2025 Jul;21(4):351-353. doi: 10.3988/jcn.2024.0206.

DOI:10.3988/jcn.2024.0206
PMID:40635541
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12303678/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a6f9/12303678/d4eb06be3a1c/jcn-21-351-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a6f9/12303678/d4eb06be3a1c/jcn-21-351-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a6f9/12303678/d4eb06be3a1c/jcn-21-351-g001.jpg

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Leukoencephalopathy With Cerebral Calcifications and Cysts With Novel Mutations Presenting With Bilateral Giant Cysts.伴有脑钙化和囊肿的白质脑病及新型突变，表现为双侧巨大囊肿
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本文引用的文献

1
Treatment of Leukoencephalopathy With Calcifications and Cysts With Bevacizumab.贝伐单抗治疗伴有钙化和囊肿的白质脑病
Pediatr Neurol. 2017 Jun;71:56-59. doi: 10.1016/j.pediatrneurol.2017.03.008. Epub 2017 Mar 23.
2
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.SNORD118基因的突变会导致伴有钙化和囊肿的脑微血管病性白质脑病。
Nat Genet. 2016 Oct;48(10):1185-92. doi: 10.1038/ng.3661. Epub 2016 Aug 29.
3
Late presentation of leucoencephalopathy with calcifications and cysts: report of two cases.
J Neurol Neurosurg Psychiatry. 2008 Nov;79(11):1303-4. doi: 10.1136/jnnp.2008.148429.
4
Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy.
Neurology. 1996 May;46(5):1297-301. doi: 10.1212/wnl.46.5.1297.