NEJM:Sturge–Weber综合征-病例报道

2017-08-31 xing.T MedSci原创

Sturge Weber综合征是一种罕见的先天性血管疾病,其特点是皮肤毛细血管畸形,又称葡萄酒胎记(图B显示了初次就诊2年后患者的面部),以及大脑和眼中不正常的毛细静脉血管,这些异常会导致青光眼、癫痫发作、卒中和智力残疾。左边肢体无力被认为是发作后麻痹,在24小时内得以缓解。

患者为一位6岁的女孩,因左臂和腿部突然无力而到急诊就诊。该患者报告其右眼疼痛2天,没有发生癫痫发作,其右脸有一个不可碰触的红色病变,并且双眼眼压升高。

头部磁共振成像(MRI)检查显示大脑萎缩,软脑膜增强伴随右侧大脑有凸度。敏感性加权MRI成像(如图A所示)显示沿右大脑凸面存在异常的脑膜毛细血管。MRI和临床表现均与Sturge Weber综合征相一致。



Sturge Weber综合征是一种罕见的先天性血管疾病,其特点是皮肤毛细血管畸形,又称葡萄酒胎记(图B显示了初次就诊2年后患者的面部),以及大脑和眼中不正常的毛细静脉血管,这些异常会导致青光眼、癫痫发作、卒中和智力残疾。左边肢体无力被认为是发作后麻痹,在24小时内得以缓解。

给予抗癫痫药物治疗,以及采用噻吗洛尔和多佐胺治疗青光眼,同时,每日服用低剂量阿司匹林治疗以减少血栓事件的风险。在接下来的2年中,她报道了两次癫痫发作,这导致了其抗癫痫治疗方案的调整。

原始出处:


Shivang Desai, et al. Sturge–Weber Syndrome.N Engl J Med 2017; http://www.nejm.org/doi/full/10.1056/NEJMicm1700538

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    2017-09-03 jin321

    少见病

    0

  2. [GetPortalCommentsPageByObjectIdResponse(id=239869, encodeId=f3432398696e, content=少见病, beContent=null, objectType=article, channel=null, level=null, likeNumber=58, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3xjZ9qh3bhXrJtUlmycKGfQKPuADVZQsdNAQj5IrHHlzbGsDwScictBgogYRk8KhicpgEKwTEfOHgqw/0, createdBy=bc931611963, createdName=jin321, createdTime=Sun Sep 03 00:43:54 CST 2017, time=2017-09-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=239704, encodeId=0e01239e04ad, content=学习了谢谢分享!!, beContent=null, objectType=article, channel=null, level=null, likeNumber=70, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20200816/e4675a86ea694f12b82202b320dc2654/12f6b900498349e994ce8f516a584d6a.jpg, createdBy=09431951290, createdName=大爰, createdTime=Sat Sep 02 10:43:20 CST 2017, time=2017-09-02, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1430953, encodeId=0728143095334, content=<a href='/topic/show?id=f9b9e9124a8' target=_blank style='color:#2F92EE;'>#综合征#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=79124, encryptionId=f9b9e9124a8, topicName=综合征)], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyheQLjPSX3OUs5GmkyBlcCOwTPIeq3why9NGibxxUqYo6hcx8qZLHZFgNPnBK1yzWeOFpyg2OnWOt0/0, createdBy=fa4716, createdName=zhouqu_8, createdTime=Sat Sep 02 03:54:00 CST 2017, time=2017-09-02, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=239209, encodeId=b1352392092d, content=嗯.是个比较典型的, beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/ajNVdqHZLLCclExeQ6LOGMD4dTsia4Ty4HtZCxRmG5vO5XIKfKX3a3vusfhHSej4Iib517vmhFW7RQgh7bpDp1yw/0, createdBy=50951609779, createdName=baihao215, createdTime=Fri Sep 01 07:05:10 CST 2017, time=2017-09-01, status=1, ipAttribution=)]
    2017-09-02 大爰

    学习了谢谢分享!!

    0

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    2017-09-02 zhouqu_8
  4. [GetPortalCommentsPageByObjectIdResponse(id=239869, encodeId=f3432398696e, content=少见病, beContent=null, objectType=article, channel=null, level=null, likeNumber=58, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3xjZ9qh3bhXrJtUlmycKGfQKPuADVZQsdNAQj5IrHHlzbGsDwScictBgogYRk8KhicpgEKwTEfOHgqw/0, createdBy=bc931611963, createdName=jin321, createdTime=Sun Sep 03 00:43:54 CST 2017, time=2017-09-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=239704, encodeId=0e01239e04ad, content=学习了谢谢分享!!, beContent=null, objectType=article, channel=null, level=null, likeNumber=70, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20200816/e4675a86ea694f12b82202b320dc2654/12f6b900498349e994ce8f516a584d6a.jpg, createdBy=09431951290, createdName=大爰, createdTime=Sat Sep 02 10:43:20 CST 2017, time=2017-09-02, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1430953, encodeId=0728143095334, content=<a href='/topic/show?id=f9b9e9124a8' target=_blank style='color:#2F92EE;'>#综合征#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=79124, encryptionId=f9b9e9124a8, topicName=综合征)], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyheQLjPSX3OUs5GmkyBlcCOwTPIeq3why9NGibxxUqYo6hcx8qZLHZFgNPnBK1yzWeOFpyg2OnWOt0/0, createdBy=fa4716, createdName=zhouqu_8, createdTime=Sat Sep 02 03:54:00 CST 2017, time=2017-09-02, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=239209, encodeId=b1352392092d, content=嗯.是个比较典型的, beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/ajNVdqHZLLCclExeQ6LOGMD4dTsia4Ty4HtZCxRmG5vO5XIKfKX3a3vusfhHSej4Iib517vmhFW7RQgh7bpDp1yw/0, createdBy=50951609779, createdName=baihao215, createdTime=Fri Sep 01 07:05:10 CST 2017, time=2017-09-01, status=1, ipAttribution=)]
    2017-09-01 baihao215

    嗯.是个比较典型的

    0