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中华脑血管病杂志(电子版) ›› 2023, Vol. 17 ›› Issue (03) : 302 -305. doi: 10.11817/j.issn.1673-9248.2023.03.020

病例报告

胱硫醚β合成酶缺乏导致自发性脑静脉窦血栓形成一例
田婧()   
  1. 618000 四川德阳,德阳市人民医院神经内科
  • 收稿日期:2022-11-07 出版日期:2023-06-01
  • 通信作者: 田婧
  • 基金资助:
    四川省医学(青年创新)科研课题(Q21046)

Cystathionine-β-synthase deficiency caused spontaneous cerebral venous sinus thrombosis in one case

jing Tian()   

  • Received:2022-11-07 Published:2023-06-01
  • Corresponding author: jing Tian
引用本文:

田婧. 胱硫醚β合成酶缺乏导致自发性脑静脉窦血栓形成一例[J]. 中华脑血管病杂志(电子版), 2023, 17(03): 302-305.

jing Tian. Cystathionine-β-synthase deficiency caused spontaneous cerebral venous sinus thrombosis in one case[J]. Chinese Journal of Cerebrovascular Diseases(Electronic Edition), 2023, 17(03): 302-305.

图1 患者入院时MRI检查结果。图a为T1加权像显示左侧额叶皮质低信号;图b为T2加权像显示混合信号,且该病灶在FLAIR和DWI上具有高信号;图c为FLAIR;图d为DWI 注:MRI为磁共振成像;FLAIR为流体衰减反转恢复;DWI为弥散加权成像
图2 患者入院后及治疗3个月后复查的CTV图像。图a为入院时CTV显示患者上矢状窦充盈缺损长约8.7 cm,左侧大脑上静脉多处充盈缺损;图b为治疗3个月复查CTV显示患者上矢状窦和左侧大脑上静脉再通 注:CTV为计算机断层扫描脑静脉造影
图3 Sanger测序显示患者存在2个CBS突变位点。图a为c.949A>G(p.Arg317Gly);图b为c.1126G>A(p.Asp376Asn)。家系验证显示两个突变位点分别来自其父亲(图a)及母亲(图b) 注:CBS为胱硫醚β合成酶
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