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NEJM:海绵状血管畸形-病例报道

2017-07-06 xing.T MedSci原创

海绵状畸形主要发生在大脑,但也可在皮肤、脊髓和视网膜中发现。一部分脑海绵状血管畸形患者是无症状的,而另一些则伴有神经症状,如癫痫发作、头痛,甚至出现致死性脑出血。脑海绵状血管畸形可能是散发性的或家族性的。患者母亲和外祖父有类似于该患者的皮肤病变,但没有进行脑部成像。

患者为一位59岁的男性,因渐进性头痛恶化一年而到门诊就诊。神经系统检查正常;皮肤检查发现多个角化丘疹和结节性皮肤病变。



磁共振成像发现大脑中发现许多病变符合海绵状血管畸形的表现,病变累及大脑半球、小脑、脑干(如图A所示T2加权、快速场回波图像,以图B血氧水平依赖的图像;P代表后部)。

海绵状畸形主要发生在大脑,但也可在皮肤、脊髓和视网膜中发现。一部分脑海绵状血管畸形患者是无症状的,而另一些则伴有神经症状,如癫痫发作、头痛,甚至出现致死性脑出血。脑海绵状血管畸形可能是散发性的或家族性的。患者母亲和外祖父有类似于该患者的皮肤病变,但没有进行脑部成像。

对该患者进行遗传分析显示,KRIT1基因突变(也叫CCM1)是与家族性海绵状血管畸形综合征诊断相一致。由于大量脑海绵状血管畸形存在,神经外科治疗并不是一种选择的治疗方案。

该患者仍有间歇性头痛,可通过β受体阻滞剂治疗部分缓解。但该患者也发生了轻度认知减退和记忆缺失。

原始出处:


Ithamar Ganmore,et al. Cerebral Cavernous Malformations.N Engl J Med 2017; http://www.nejm.org/doi/full/10.1056/NEJMicm1613312

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    2017-07-07 wushaoling
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    2017-07-07 狼毒花1982

    学习了感谢分享

    0

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    2017-07-06 执迷不悔

    学习了

    0

  6. [GetPortalCommentsPageByObjectIdResponse(id=1709717, encodeId=32d91e097170c, content=<a href='/topic/show?id=28e089e13d1' target=_blank style='color:#2F92EE;'>#血管畸形#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=70, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=89713, encryptionId=28e089e13d1, topicName=血管畸形)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=70cd31776816, createdName=12498ca5m93暂无昵称, createdTime=Sat Jul 29 01:35:00 CST 2017, time=2017-07-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1362177, encodeId=a7d613621e7f8, content=<a href='/topic/show?id=9857e03444b' target=_blank style='color:#2F92EE;'>#畸形#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=57, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=70344, encryptionId=9857e03444b, topicName=畸形)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ca20190, createdName=wushaoling, createdTime=Fri Jul 07 23:35:00 CST 2017, time=2017-07-07, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1591765, encodeId=2f0a1591e6562, content=<a href='/topic/show?id=3047656523d' target=_blank style='color:#2F92EE;'>#海绵状#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=65, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=65652, encryptionId=3047656523d, topicName=海绵状)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=778d36, createdName=柳叶一刀, createdTime=Fri Jul 07 23:35:00 CST 2017, time=2017-07-07, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=219356, encodeId=d732219356e9, content=学习了感谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=106, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/NUyjXTCJjo6KcicAVC1MwuNreCBwuEU9I5ich0uE1zdHnicdKjEibG64cgLHSp5sMMFMiatLiaDaSrGOj1jAaDuTZo7vDLDhgRFHt6/0, createdBy=caa52003923, createdName=狼毒花1982, createdTime=Fri Jul 07 06:11:12 CST 2017, time=2017-07-07, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=219133, encodeId=7679219133e2, content=学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=92, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/y6Sk2KiaDibWSs0icexcRzKWXKao9dILdyaB6olvWApA1uiaapa4T9XMiaU7hTZA04uj2iavabfdCT5iaO6AYue5qSJ7MzXaAVSqh6j/0, createdBy=08e01983553, createdName=执迷不悔, createdTime=Thu Jul 06 10:36:58 CST 2017, time=2017-07-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=219127, encodeId=37c521912ed1, content=谢谢分享,学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=78, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/NUyjXTCJjo6Nx0VGA4QMDzOP8oAgnV4h51EjSfehJ9QxyiaSmw8PB56BhY8KXFSxHCibXrzcy4abrzSibXQPxJ9kzrLcJyhhB8a/0, createdBy=1d3b1672603, createdName=明月清辉, createdTime=Thu Jul 06 10:07:59 CST 2017, time=2017-07-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=219109, encodeId=a72021910965, content=不错不错,值得学习, beContent=null, objectType=article, channel=null, level=null, likeNumber=88, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://thirdwx.qlogo.cn/mmopen/vi_32/DYAIOgq83eqHRBxCzAHnrSmhuOPyjRs0rAicIeOSA3eicLXAW84zc4XhJOeWLibKwYffvniaBic79ke4dHriasfq7BmQ/132, createdBy=10ff1961700, createdName=Smuzdj, createdTime=Thu Jul 06 09:33:46 CST 2017, time=2017-07-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=219101, encodeId=031e21910116, content=学习,谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=96, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyhb9xDeHojCicsdRdyC3XXdGk2ib9yLypZuHN06WeW4HO8WN0GGrgEfvnTX8gsckof05GHOU5OM4Mvx/0, createdBy=9cee1982656, createdName=执着追梦, createdTime=Thu Jul 06 09:22:52 CST 2017, time=2017-07-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=219096, encodeId=deba219096c4, content=学习了感谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=51, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/NUyjXTCJjo6KcicAVC1MwuNreCBwuEU9I5ich0uE1zdHnicdKjEibG64cgLHSp5sMMFMiatLiaDaSrGOj1jAaDuTZo7vDLDhgRFHt6/0, createdBy=caa52003923, createdName=狼毒花1982, createdTime=Thu Jul 06 08:40:04 CST 2017, time=2017-07-06, status=1, ipAttribution=)]
    2017-07-06 明月清辉

    谢谢分享,学习了

    0

  7. [GetPortalCommentsPageByObjectIdResponse(id=1709717, encodeId=32d91e097170c, content=<a href='/topic/show?id=28e089e13d1' target=_blank style='color:#2F92EE;'>#血管畸形#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=70, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=89713, encryptionId=28e089e13d1, topicName=血管畸形)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=70cd31776816, createdName=12498ca5m93暂无昵称, createdTime=Sat Jul 29 01:35:00 CST 2017, time=2017-07-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1362177, encodeId=a7d613621e7f8, content=<a href='/topic/show?id=9857e03444b' target=_blank style='color:#2F92EE;'>#畸形#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=57, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=70344, encryptionId=9857e03444b, topicName=畸形)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ca20190, createdName=wushaoling, createdTime=Fri Jul 07 23:35:00 CST 2017, time=2017-07-07, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1591765, encodeId=2f0a1591e6562, content=<a href='/topic/show?id=3047656523d' target=_blank style='color:#2F92EE;'>#海绵状#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=65, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=65652, encryptionId=3047656523d, topicName=海绵状)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=778d36, createdName=柳叶一刀, createdTime=Fri Jul 07 23:35:00 CST 2017, time=2017-07-07, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=219356, encodeId=d732219356e9, content=学习了感谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=106, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/NUyjXTCJjo6KcicAVC1MwuNreCBwuEU9I5ich0uE1zdHnicdKjEibG64cgLHSp5sMMFMiatLiaDaSrGOj1jAaDuTZo7vDLDhgRFHt6/0, createdBy=caa52003923, createdName=狼毒花1982, createdTime=Fri Jul 07 06:11:12 CST 2017, time=2017-07-07, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=219133, encodeId=7679219133e2, content=学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=92, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/y6Sk2KiaDibWSs0icexcRzKWXKao9dILdyaB6olvWApA1uiaapa4T9XMiaU7hTZA04uj2iavabfdCT5iaO6AYue5qSJ7MzXaAVSqh6j/0, createdBy=08e01983553, createdName=执迷不悔, createdTime=Thu Jul 06 10:36:58 CST 2017, time=2017-07-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=219127, encodeId=37c521912ed1, content=谢谢分享,学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=78, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/NUyjXTCJjo6Nx0VGA4QMDzOP8oAgnV4h51EjSfehJ9QxyiaSmw8PB56BhY8KXFSxHCibXrzcy4abrzSibXQPxJ9kzrLcJyhhB8a/0, createdBy=1d3b1672603, createdName=明月清辉, createdTime=Thu Jul 06 10:07:59 CST 2017, time=2017-07-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=219109, encodeId=a72021910965, content=不错不错,值得学习, beContent=null, objectType=article, channel=null, level=null, likeNumber=88, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://thirdwx.qlogo.cn/mmopen/vi_32/DYAIOgq83eqHRBxCzAHnrSmhuOPyjRs0rAicIeOSA3eicLXAW84zc4XhJOeWLibKwYffvniaBic79ke4dHriasfq7BmQ/132, createdBy=10ff1961700, createdName=Smuzdj, createdTime=Thu Jul 06 09:33:46 CST 2017, time=2017-07-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=219101, encodeId=031e21910116, content=学习,谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=96, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyhb9xDeHojCicsdRdyC3XXdGk2ib9yLypZuHN06WeW4HO8WN0GGrgEfvnTX8gsckof05GHOU5OM4Mvx/0, createdBy=9cee1982656, createdName=执着追梦, createdTime=Thu Jul 06 09:22:52 CST 2017, time=2017-07-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=219096, encodeId=deba219096c4, content=学习了感谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=51, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/NUyjXTCJjo6KcicAVC1MwuNreCBwuEU9I5ich0uE1zdHnicdKjEibG64cgLHSp5sMMFMiatLiaDaSrGOj1jAaDuTZo7vDLDhgRFHt6/0, createdBy=caa52003923, createdName=狼毒花1982, createdTime=Thu Jul 06 08:40:04 CST 2017, time=2017-07-06, status=1, ipAttribution=)]
    2017-07-06 Smuzdj

    不错不错,值得学习

    0

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    2017-07-06 执着追梦

    学习,谢谢分享

    0

  9. [GetPortalCommentsPageByObjectIdResponse(id=1709717, encodeId=32d91e097170c, content=<a href='/topic/show?id=28e089e13d1' target=_blank style='color:#2F92EE;'>#血管畸形#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=70, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=89713, encryptionId=28e089e13d1, topicName=血管畸形)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=70cd31776816, createdName=12498ca5m93暂无昵称, createdTime=Sat Jul 29 01:35:00 CST 2017, time=2017-07-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1362177, encodeId=a7d613621e7f8, content=<a href='/topic/show?id=9857e03444b' target=_blank style='color:#2F92EE;'>#畸形#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=57, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=70344, encryptionId=9857e03444b, topicName=畸形)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ca20190, createdName=wushaoling, createdTime=Fri Jul 07 23:35:00 CST 2017, time=2017-07-07, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1591765, encodeId=2f0a1591e6562, content=<a href='/topic/show?id=3047656523d' target=_blank style='color:#2F92EE;'>#海绵状#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=65, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=65652, encryptionId=3047656523d, topicName=海绵状)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=778d36, createdName=柳叶一刀, createdTime=Fri Jul 07 23:35:00 CST 2017, time=2017-07-07, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=219356, encodeId=d732219356e9, content=学习了感谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=106, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/NUyjXTCJjo6KcicAVC1MwuNreCBwuEU9I5ich0uE1zdHnicdKjEibG64cgLHSp5sMMFMiatLiaDaSrGOj1jAaDuTZo7vDLDhgRFHt6/0, createdBy=caa52003923, createdName=狼毒花1982, createdTime=Fri Jul 07 06:11:12 CST 2017, time=2017-07-07, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=219133, encodeId=7679219133e2, content=学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=92, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/y6Sk2KiaDibWSs0icexcRzKWXKao9dILdyaB6olvWApA1uiaapa4T9XMiaU7hTZA04uj2iavabfdCT5iaO6AYue5qSJ7MzXaAVSqh6j/0, createdBy=08e01983553, createdName=执迷不悔, createdTime=Thu Jul 06 10:36:58 CST 2017, time=2017-07-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=219127, encodeId=37c521912ed1, content=谢谢分享,学习了, beContent=null, objectType=article, channel=null, level=null, likeNumber=78, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/NUyjXTCJjo6Nx0VGA4QMDzOP8oAgnV4h51EjSfehJ9QxyiaSmw8PB56BhY8KXFSxHCibXrzcy4abrzSibXQPxJ9kzrLcJyhhB8a/0, createdBy=1d3b1672603, createdName=明月清辉, createdTime=Thu Jul 06 10:07:59 CST 2017, time=2017-07-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=219109, encodeId=a72021910965, content=不错不错,值得学习, beContent=null, objectType=article, channel=null, level=null, likeNumber=88, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://thirdwx.qlogo.cn/mmopen/vi_32/DYAIOgq83eqHRBxCzAHnrSmhuOPyjRs0rAicIeOSA3eicLXAW84zc4XhJOeWLibKwYffvniaBic79ke4dHriasfq7BmQ/132, createdBy=10ff1961700, createdName=Smuzdj, createdTime=Thu Jul 06 09:33:46 CST 2017, time=2017-07-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=219101, encodeId=031e21910116, content=学习,谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=96, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyhb9xDeHojCicsdRdyC3XXdGk2ib9yLypZuHN06WeW4HO8WN0GGrgEfvnTX8gsckof05GHOU5OM4Mvx/0, createdBy=9cee1982656, createdName=执着追梦, createdTime=Thu Jul 06 09:22:52 CST 2017, time=2017-07-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=219096, encodeId=deba219096c4, content=学习了感谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=51, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/NUyjXTCJjo6KcicAVC1MwuNreCBwuEU9I5ich0uE1zdHnicdKjEibG64cgLHSp5sMMFMiatLiaDaSrGOj1jAaDuTZo7vDLDhgRFHt6/0, createdBy=caa52003923, createdName=狼毒花1982, createdTime=Thu Jul 06 08:40:04 CST 2017, time=2017-07-06, status=1, ipAttribution=)]
    2017-07-06 狼毒花1982

    学习了感谢分享

    0

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