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Neurology：见于von Hippel-Lindau病的中枢神经系统血管母细胞瘤伴外显子3缺失

2018-08-29 zyx整理 MedSci原创

血管母细胞瘤肌肉萎缩反射亢进
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14岁男孩，表现为进行性双侧腿部无力5月。体格检查提示小腿肌肉萎缩（图A）和反射亢进。怀疑脊髓病变缓慢进展。

14岁男孩，表现为进行性双侧腿部无力5月。体格检查提示小腿肌肉萎缩（图A）和反射亢进。怀疑脊髓病变缓慢进展。

脊柱和脑MRI可见脊髓和小脑血管母细胞瘤，延髓空洞和胸椎脊髓空洞（图B-D，F）。腹部MRI可见多个胰腺囊肿（图E）。患者还有视网膜血管母细胞瘤。 遗传学检测提示VHL基因杂合子新发外显子3缺失。

65％的von Hippel-Lindau病可出现无力。本例患者截短突变，其与较高的血管母细胞瘤发生率相关，但患嗜铬细胞瘤的风险较低。


（图：A：小腿萎缩；B-C：增强T1可见左侧小脑和颈髓延髓交界处的血管母细胞瘤；D：梯度回波序列可见供血动脉；E：T2WI可见多发胰腺囊肿；F：T2WI可见T7-8血管母细胞瘤，延髓空洞和胸椎脊髓空洞）

原始出处：Chao CC1, Tsai YS1, Chen LW2. Teaching NeuroImages: CNS hemangioblastomas in von Hippel-Lindau disease with exon 3 deletion. Neurology. 2018 Aug 7;91(6):e601-e602.

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    2019-01-31 feather89

    #PE#

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    2019-02-01 yinhl1978

    #Neurol#

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    2019-05-01 weiz

    #血管母细胞瘤#

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status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1624229, encodeId=2f2e16242298d, content=<a href='/topic/show?id=a9b2222e60a' target=_blank style='color:#2F92EE;'>#中枢神经#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=22276, encryptionId=a9b2222e60a, topicName=中枢神经)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=1fcf20658765, createdName=smlt2015, createdTime=Fri Aug 31 07:30:00 CST 2018, time=2018-08-31, status=1, ipAttribution=)]
    2018-11-09 huperzia

    #母细胞瘤#

    0

  5. 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status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1624229, encodeId=2f2e16242298d, content=<a href='/topic/show?id=a9b2222e60a' target=_blank style='color:#2F92EE;'>#中枢神经#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=22276, encryptionId=a9b2222e60a, topicName=中枢神经)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=1fcf20658765, createdName=smlt2015, createdTime=Fri Aug 31 07:30:00 CST 2018, time=2018-08-31, status=1, ipAttribution=)]
    2018-08-31 luoxiaog

    #神经系统#

    0

  6. 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channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=9825, encryptionId=211f98250b, topicName=IND)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=16377007930, createdName=xiaogang319, createdTime=Fri Aug 31 07:30:00 CST 2018, time=2018-08-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1475929, encodeId=e58814e592942, content=<a href='/topic/show?id=2bcee797732' target=_blank style='color:#2F92EE;'>#细胞瘤#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=36, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=77977, encryptionId=2bcee797732, topicName=细胞瘤)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=bf5e7252474, createdName=spoonycyy, createdTime=Fri Aug 31 07:30:00 CST 2018, time=2018-08-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1581054, encodeId=97ca15810540d, content=<a href='/topic/show?id=3beb12600e5' target=_blank style='color:#2F92EE;'>#NDA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12600, encryptionId=3beb12600e5, topicName=NDA)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=9a9e16702381, createdName=12498a49m65暂无昵称, createdTime=Fri Aug 31 07:30:00 CST 2018, time=2018-08-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1619045, encodeId=ea1c1619045c2, content=<a href='/topic/show?id=492a42862bd' target=_blank style='color:#2F92EE;'>#外显子#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=42862, encryptionId=492a42862bd, topicName=外显子)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=a12645, createdName=docwu2019, createdTime=Fri Aug 31 07:30:00 CST 2018, time=2018-08-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1624229, encodeId=2f2e16242298d, content=<a href='/topic/show?id=a9b2222e60a' target=_blank style='color:#2F92EE;'>#中枢神经#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=22276, encryptionId=a9b2222e60a, topicName=中枢神经)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=1fcf20658765, createdName=smlt2015, createdTime=Fri Aug 31 07:30:00 CST 2018, time=2018-08-31, status=1, ipAttribution=)]
    2018-08-31 xiaogang319

    #IND#

    0

  7. 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channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=9825, encryptionId=211f98250b, topicName=IND)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=16377007930, createdName=xiaogang319, createdTime=Fri Aug 31 07:30:00 CST 2018, time=2018-08-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1475929, encodeId=e58814e592942, content=<a href='/topic/show?id=2bcee797732' target=_blank style='color:#2F92EE;'>#细胞瘤#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=36, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=77977, encryptionId=2bcee797732, topicName=细胞瘤)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=bf5e7252474, createdName=spoonycyy, createdTime=Fri Aug 31 07:30:00 CST 2018, time=2018-08-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1581054, encodeId=97ca15810540d, content=<a href='/topic/show?id=3beb12600e5' target=_blank style='color:#2F92EE;'>#NDA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12600, encryptionId=3beb12600e5, topicName=NDA)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=9a9e16702381, createdName=12498a49m65暂无昵称, createdTime=Fri Aug 31 07:30:00 CST 2018, time=2018-08-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1619045, encodeId=ea1c1619045c2, content=<a href='/topic/show?id=492a42862bd' target=_blank style='color:#2F92EE;'>#外显子#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=42862, encryptionId=492a42862bd, topicName=外显子)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=a12645, createdName=docwu2019, createdTime=Fri Aug 31 07:30:00 CST 2018, time=2018-08-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1624229, encodeId=2f2e16242298d, content=<a href='/topic/show?id=a9b2222e60a' target=_blank style='color:#2F92EE;'>#中枢神经#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=22276, encryptionId=a9b2222e60a, topicName=中枢神经)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=1fcf20658765, createdName=smlt2015, createdTime=Fri Aug 31 07:30:00 CST 2018, time=2018-08-31, status=1, ipAttribution=)]
    2018-08-31 spoonycyy

    #细胞瘤#

    0

  8. 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channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=9825, encryptionId=211f98250b, topicName=IND)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=16377007930, createdName=xiaogang319, createdTime=Fri Aug 31 07:30:00 CST 2018, time=2018-08-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1475929, encodeId=e58814e592942, content=<a href='/topic/show?id=2bcee797732' target=_blank style='color:#2F92EE;'>#细胞瘤#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=36, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=77977, encryptionId=2bcee797732, topicName=细胞瘤)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=bf5e7252474, createdName=spoonycyy, createdTime=Fri Aug 31 07:30:00 CST 2018, time=2018-08-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1581054, encodeId=97ca15810540d, content=<a href='/topic/show?id=3beb12600e5' target=_blank style='color:#2F92EE;'>#NDA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12600, encryptionId=3beb12600e5, topicName=NDA)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=9a9e16702381, createdName=12498a49m65暂无昵称, createdTime=Fri Aug 31 07:30:00 CST 2018, time=2018-08-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1619045, encodeId=ea1c1619045c2, content=<a href='/topic/show?id=492a42862bd' target=_blank style='color:#2F92EE;'>#外显子#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=42862, encryptionId=492a42862bd, topicName=外显子)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=a12645, createdName=docwu2019, createdTime=Fri Aug 31 07:30:00 CST 2018, time=2018-08-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1624229, encodeId=2f2e16242298d, content=<a href='/topic/show?id=a9b2222e60a' target=_blank style='color:#2F92EE;'>#中枢神经#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=22276, encryptionId=a9b2222e60a, topicName=中枢神经)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=1fcf20658765, createdName=smlt2015, createdTime=Fri Aug 31 07:30:00 CST 2018, time=2018-08-31, status=1, ipAttribution=)]
    2018-08-31 12498a49m65暂无昵称

    #NDA#

    0

  9. [GetPortalCommentsPageByObjectIdResponse(id=1727566, encodeId=cd8c1e2756675, content=<a href='/topic/show?id=986913980dd' target=_blank style='color:#2F92EE;'>#PE#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=28, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=13980, encryptionId=986913980dd, topicName=PE)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f06c33759375, createdName=feather89, createdTime=Thu Jan 31 09:30:00 CST 2019, time=2019-01-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2000561, encodeId=a2f120005614a, content=<a href='/topic/show?id=d5df12695e6' target=_blank style='color:#2F92EE;'>#Neurol#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=24, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12695, encryptionId=d5df12695e6, topicName=Neurol)], attachment=null, authenticateStatus=null, createdAvatar=, 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encryptionId=c38963544cc, topicName=母细胞瘤)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=b07438375157, createdName=huperzia, createdTime=Fri Nov 09 11:30:00 CST 2018, time=2018-11-09, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1283089, encodeId=15bd12830898e, content=<a href='/topic/show?id=4fade445192' target=_blank style='color:#2F92EE;'>#神经系统#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=32, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=74451, encryptionId=4fade445192, topicName=神经系统)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=02f5179, createdName=luoxiaog, createdTime=Fri Aug 31 07:30:00 CST 2018, time=2018-08-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1469120, encodeId=0c22146912004, content=<a href='/topic/show?id=211f98250b' target=_blank style='color:#2F92EE;'>#IND#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=9825, encryptionId=211f98250b, topicName=IND)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=16377007930, createdName=xiaogang319, createdTime=Fri Aug 31 07:30:00 CST 2018, time=2018-08-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1475929, encodeId=e58814e592942, content=<a href='/topic/show?id=2bcee797732' target=_blank style='color:#2F92EE;'>#细胞瘤#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=36, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=77977, encryptionId=2bcee797732, topicName=细胞瘤)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=bf5e7252474, createdName=spoonycyy, createdTime=Fri Aug 31 07:30:00 CST 2018, time=2018-08-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1581054, encodeId=97ca15810540d, content=<a href='/topic/show?id=3beb12600e5' target=_blank style='color:#2F92EE;'>#NDA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12600, encryptionId=3beb12600e5, topicName=NDA)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=9a9e16702381, createdName=12498a49m65暂无昵称, createdTime=Fri Aug 31 07:30:00 CST 2018, time=2018-08-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1619045, encodeId=ea1c1619045c2, content=<a href='/topic/show?id=492a42862bd' target=_blank style='color:#2F92EE;'>#外显子#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=42862, encryptionId=492a42862bd, topicName=外显子)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=a12645, createdName=docwu2019, createdTime=Fri Aug 31 07:30:00 CST 2018, time=2018-08-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1624229, encodeId=2f2e16242298d, content=<a href='/topic/show?id=a9b2222e60a' target=_blank style='color:#2F92EE;'>#中枢神经#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=22276, encryptionId=a9b2222e60a, topicName=中枢神经)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=1fcf20658765, createdName=smlt2015, createdTime=Fri Aug 31 07:30:00 CST 2018, time=2018-08-31, status=1, ipAttribution=)]
    2018-08-31 docwu2019

    #外显子#

    0

  10. [GetPortalCommentsPageByObjectIdResponse(id=1727566, encodeId=cd8c1e2756675, content=<a href='/topic/show?id=986913980dd' target=_blank style='color:#2F92EE;'>#PE#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=28, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=13980, encryptionId=986913980dd, topicName=PE)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f06c33759375, createdName=feather89, createdTime=Thu Jan 31 09:30:00 CST 2019, time=2019-01-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2000561, encodeId=a2f120005614a, content=<a href='/topic/show?id=d5df12695e6' target=_blank style='color:#2F92EE;'>#Neurol#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=24, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=12695, encryptionId=d5df12695e6, topicName=Neurol)], attachment=null, authenticateStatus=null, createdAvatar=, 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channel=null, level=null, likeNumber=30, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=9825, encryptionId=211f98250b, topicName=IND)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=16377007930, createdName=xiaogang319, createdTime=Fri Aug 31 07:30:00 CST 2018, time=2018-08-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1475929, encodeId=e58814e592942, content=<a href='/topic/show?id=2bcee797732' target=_blank style='color:#2F92EE;'>#细胞瘤#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=36, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=77977, encryptionId=2bcee797732, topicName=细胞瘤)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=bf5e7252474, createdName=spoonycyy, createdTime=Fri Aug 31 07:30:00 CST 2018, time=2018-08-31, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1581054, encodeId=97ca15810540d, content=<a 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status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1624229, encodeId=2f2e16242298d, content=<a href='/topic/show?id=a9b2222e60a' target=_blank style='color:#2F92EE;'>#中枢神经#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=27, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=22276, encryptionId=a9b2222e60a, topicName=中枢神经)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=1fcf20658765, createdName=smlt2015, createdTime=Fri Aug 31 07:30:00 CST 2018, time=2018-08-31, status=1, ipAttribution=)]
    2018-08-31 smlt2015

    #中枢神经#

    0

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