Vascular Ossification in the Developing Brain:A Case Study of Pediatric Sturge Weber Syndrome  

作　　者：Ranxi Chen Shuhui Xie Jin Gao Shuli Zhang Xiaobin Zhang Yi Yao Gengxiu Zheng Fengpeng Wang Zili Liu Xuefeng Shen 

机构地区：[1]School of Chemistry and Chemical Engineering,University of Jinan,Jinan 250022,China [2]CAS Key Laboratory of Brain Connectome and Manipulation,Shenzhen-Hong Kong Institute of Brain Science,Shenzhen Institute of Advanced Technology(SIAT),Chinese Academy of Sciences(CAS),Shenzhen 518055,China [3]The Brain Cognition and Brain Disease Institute,SIAT,CAS,Shenzhen 518055,China [4]Sino-Danish College,University of CAS,Beijing 100190,China [5]HH-SIAT Joint Center for Epilepsy Research,Xiamen Humanity Hospital(XHH),Xiamen 361003,China [6]Department of Pathology,XHH,Xiamen 361003,China [7]State Key Laboratory of Brain and Cognitive Sciences,CAS Center for Excellence in Biomacromolecules,Institute of Biophysics,CAS,Beijing 100101,China [8]University of CAS,Beijing 100049,China [9]Epilepsy Center,XHH,Xiamen 361003,China

出　　处：《Neuroscience Bulletin》2025年第3期520-524,共5页神经科学通报(英文版)

基　　金：supported by the Natural Science Foundation of Guangdong Province(2022A1515010297);the National Natural Science Foundation of China(32100765);the Xiamen Medical Health Science and Technology Project(3502Z20194098);the Shenzhen-Hong Kong-Macao Science and Technology Innovation Project(SGDX2020110309280100).

摘　　要：Dear Editor,Sturge-Weber Syndrome(SWS)is a rare congenital neurocutaneous syndrome[1,2],with an estimated prevalence of 0.19 in 100,000 annually[3].It is a non-hereditary disease linked to a somatic mutation in the GNAQ,GNA11,or GNB2 gene[1],leading to vascular malformations in the cutaneous forehead,cerebral cortex,and eye[1,2].Notably,~70%of pediatric patients diagnosed with SWS exhibit brain calcification(BC)[4],though the prevalence of BC ranges from only 1%in young individuals to>20%in the senior population(>60 years old)[5].Similar to the elderly,BC in pediatric SWS patients is identified as vascular calcification[6,7],whereas BC in pediatric patients with tuberous sclerosis and tumors has been previously described as dystrophic calcification[6].

关 键 词：vascular calcification vascular malformations brain calcification bc brain calcification congenital neurocutaneous syndrome somatic mutation vascular ossification Sturge Weber syndrome 

分 类 号：R72[医药卫生—儿科]