[1]高琳芝 张爱娟 杨利丽 刘迎春.遗传性多发性中枢神经系统海绵状血管瘤5例临床特点分析[J].卒中与神经疾病杂志,2020,27(02):228-231.[doi:10.3969/j.issn.1007-0478.2020.02.020]
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遗传性多发性中枢神经系统海绵状血管瘤5例临床特点分析()
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《卒中与神经疾病》杂志[ISSN:1007-0478/CN:42-1402/R]

卷:
第27卷
期数:
2020年02期
页码:
228-231
栏目:
论 著
出版日期:
2020-03-15

文章信息/Info

文章编号:
1007-0478(2020)02-0228-04
作者:
高琳芝 张爱娟 杨利丽 刘迎春
257000 山东省东营市胜利油田中心医院神经内科(高琳芝 刘迎春); 潍坊医学院脑科医院[张爱娟(通信作者)]; 潍坊医学院遗传教研室(杨利丽)
关键词:
海绵状血管瘤 遗传性 临床分析
分类号:
R743.9
DOI:
10.3969/j.issn.1007-0478.2020.02.020
文献标志码:
A
摘要:
目的 回顾性分析一家系中枢神经系统多发性海绵状血管瘤(Familial cerebral cavernous malformation, FCCM)的临床表现和根据不同表现的治疗特点,以提高对本病的认识。方法 对一家系3代人中枢神经系统多发性海绵状血管瘤患者进行详细的病史询问、查体、影像学检查及治疗,并作遗传学分析。结果(1)FCCM患者常为多发病灶;(2)对顽固性癫痫、出血患者推荐手术治疗,并且定期做核磁共振检查;(3)此家系可能为常染色体不完全显性遗传。结论 核磁共振检查若发现多部位CCM提示可能为家族性,不同序列核磁共振成像(MRI)尤其是磁敏感、梯度回波序列、高场强MRI是重要检查手段,DT成像和fMR成像在外科手术中作用大。

参考文献/References:

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备注/Memo

备注/Memo:
(2018-08-12收稿)
更新日期/Last Update: 2020-03-15