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肾上腺脑白质营养不良丨影像诊断要点

2022-07-30 熊猫放射 网络

影像诊断肾上腺脑白质营养不良脑部影像
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X-ALD发生在不典型的年龄→不典型的表现(无强化，可能会有大脑前部受累而不是后部)未确诊的脑白质营养不良一定有强化

 

肾上腺脑白质营养不良

(adrenoleukodystrophy，ALD)

概述

  • X-连锁肾上腺脑白质营养不良(X-ALD) ：严重进展型， 常累及青春期前男性
  • 除了儿童型大脑X-ALD(CCALD) 外， 至少还有6种变异型：症状前的X-ALD、青春期型(AdolC ALD) 、成人型(ACALD) 、肾上腺脊髓神经病（AMN）、仅表现Addison病、有症状的女性携带者
  • 过氧化酶体代谢性遗传病→极长链脂肪酸β氧化受损
影像
  • CCALD：伴强化的(CT或MR) 侧脑室三角区周围脱髓鞘
  • 经典的CCALD：侧脑室三角区周围白质；病变模式：胼胝体压部→侧脑室三角区周围基白质→皮质脊髓束/穹隆/连合纤维/视觉和听觉通路；通常皮质下U形纤维保留
  • 常见双侧对称性、融合性大脑后部受累；罕见前部受累(约10%)
  • 常见中央(胼胝体压部)相对于外周的病变变化梯度
  • T2WI：受累白质T2信号增高
  • DWI：受累白质弥散受限
  • DTI：大脑的“连接”减少，在明显的白质病变部位和症状发生前的白质，各向同性的扩散增加和各向异性缺失
  • T1WI C+：病变的前缘(病变的中间区)强化，显著强化病变进展相关
病理
  • 临床异质性归因于特异性的突变、修饰基因
  • 表型各异：C CALD、AMN→即使是同一家族， 症状发生前的表现各异
临床要点
  • 在症状发生前的ALD中， Lorenzo油延缓症状发生
  • X-ALD和变异型：北美新生儿发生率为1：16800
诊断纲要
  • X-ALD发生在不典型的年龄→不典型的表现(无强化，可能会有大脑前部受累而不是后部)
  • 未确诊的脑白质营养不良一定有强化

(左)轴位绘图显示多发层状脱髓鞘，分层与3个组织病理学上的分区相对应。外层（弯箭）由活动性病变组成，中间层（空箭）是活动性炎症。注意到中心区（直箭）彻底毁损。

(右) 一位典型的CCALD的青春前期的男孩，轴位T1WI MR显示围绕严重破坏的顶叶白质（弯箭）和胼胝体压部（空箭）的边缘存在显著强化。

 

(左) 一位大脑完全受累的青春前期的男孩，轴位T2WI MR可分辨外层的活动性炎症（白箭）和最内层白质破坏的“彻底毁损”区（黑箭）。

(右) 另一位患CCALD的有临床症状的青春前期男孩，DTI序列的胼胝体轴位纤维束成像显示穿经胼胝体压部（箭）和胼胝体辐射线枕部的白质纤维束明显缺失。

 

(左) CCALD患者(ALD1型) ，轴位FLAIR MR显示内侧膝状体（弯箭）、颞枕叶的脑室周围和深部白质（空箭）呈高信号；
(右)同一位CCALD患儿，轴位FLAIR MR显示呈高信号的穹隆后柱（黑弯箭）、胼胝体压部（黑直箭）、多分层受累的三角区周围白质（黑空箭）和外囊/最外囊（白弯箭）。
 

 

(左) 轴位FLAIR显示融合性双侧白质高信号。这位已经证实为X-ALD的学龄期男性病例(Loes 2型) ，为大脑前部受累的变异型，异常信号延伸入尾状核头、苍白球和内囊前肢。

(右)同一位患者，轴位FLAIR显示内囊的对称白质高信号延伸入大脑脚（直箭）和额叶皮质下白质（弯箭）。

 

 

↓ 内容节选自图书：

《脑部影像诊断学》 主译：吴文平 等

 

感谢大家对熊猫的关注和支持！

你的阅读就是知识存在的意义！

你的经验就是医者仁心的基石！

 

 

 

 

 
 
 

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#插入话题
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    2023-01-29 柳叶一刀

    #白质#

    0

  2. [GetPortalCommentsPageByObjectIdResponse(id=1765980, encodeId=33651e65980ea, content=<a href='/topic/show?id=252ae1803a3' target=_blank style='color:#2F92EE;'>#白质#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=55, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=71803, encryptionId=252ae1803a3, topicName=白质)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=778d36, createdName=柳叶一刀, createdTime=Sun Jan 29 08:11:03 CST 2023, time=2023-01-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1895260, encodeId=1436189526009, content=<a href='/topic/show?id=ce478241e0b' target=_blank style='color:#2F92EE;'>#肾上腺#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=82417, encryptionId=ce478241e0b, topicName=肾上腺)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=8dba135, createdName=xuyong523, createdTime=Mon Nov 07 05:11:03 CST 2022, time=2022-11-07, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1445644, encodeId=48c81445644ce, content=<a href='/topic/show?id=643e5031124' target=_blank style='color:#2F92EE;'>#影像诊断#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=54, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=50311, encryptionId=643e5031124, topicName=影像诊断)], attachment=null, authenticateStatus=null, createdAvatar=http://thirdwx.qlogo.cn/mmopen/vi_32/DYAIOgq83erGh2JQt8g9L1dqpdLyJ7EDClYbBfjvngmKJ6Vn8jCDHuYvHH6ZLao7bSXVr4okhjNU9ojr0SZFxQ/132, createdBy=12ec5143276, createdName=12498fa0m12暂无昵称, createdTime=Sat Jul 30 02:11:03 CST 2022, time=2022-07-30, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1592119, encodeId=c1a5159211912, content=<a href='/topic/show?id=a6709164e74' target=_blank style='color:#2F92EE;'>#诊断要点#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=50, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=91647, encryptionId=a6709164e74, topicName=诊断要点)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=11ae18086679, createdName=俅侠, createdTime=Sat Jul 30 02:11:03 CST 2022, time=2022-07-30, status=1, ipAttribution=)]
    2022-11-07 xuyong523

    #肾上腺#

    0

  3. [GetPortalCommentsPageByObjectIdResponse(id=1765980, encodeId=33651e65980ea, content=<a href='/topic/show?id=252ae1803a3' target=_blank style='color:#2F92EE;'>#白质#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=55, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=71803, encryptionId=252ae1803a3, topicName=白质)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=778d36, createdName=柳叶一刀, createdTime=Sun Jan 29 08:11:03 CST 2023, time=2023-01-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1895260, encodeId=1436189526009, content=<a href='/topic/show?id=ce478241e0b' target=_blank style='color:#2F92EE;'>#肾上腺#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=82417, encryptionId=ce478241e0b, topicName=肾上腺)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=8dba135, createdName=xuyong523, createdTime=Mon Nov 07 05:11:03 CST 2022, time=2022-11-07, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1445644, encodeId=48c81445644ce, content=<a href='/topic/show?id=643e5031124' target=_blank style='color:#2F92EE;'>#影像诊断#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=54, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=50311, encryptionId=643e5031124, topicName=影像诊断)], attachment=null, authenticateStatus=null, createdAvatar=http://thirdwx.qlogo.cn/mmopen/vi_32/DYAIOgq83erGh2JQt8g9L1dqpdLyJ7EDClYbBfjvngmKJ6Vn8jCDHuYvHH6ZLao7bSXVr4okhjNU9ojr0SZFxQ/132, createdBy=12ec5143276, createdName=12498fa0m12暂无昵称, createdTime=Sat Jul 30 02:11:03 CST 2022, time=2022-07-30, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1592119, encodeId=c1a5159211912, content=<a href='/topic/show?id=a6709164e74' target=_blank style='color:#2F92EE;'>#诊断要点#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=50, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=91647, encryptionId=a6709164e74, topicName=诊断要点)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=11ae18086679, createdName=俅侠, createdTime=Sat Jul 30 02:11:03 CST 2022, time=2022-07-30, status=1, ipAttribution=)]
    2022-07-30 12498fa0m12暂无昵称

    #影像诊断#

    0

  4. [GetPortalCommentsPageByObjectIdResponse(id=1765980, encodeId=33651e65980ea, content=<a href='/topic/show?id=252ae1803a3' target=_blank style='color:#2F92EE;'>#白质#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=55, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=71803, encryptionId=252ae1803a3, topicName=白质)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=778d36, createdName=柳叶一刀, createdTime=Sun Jan 29 08:11:03 CST 2023, time=2023-01-29, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1895260, encodeId=1436189526009, content=<a href='/topic/show?id=ce478241e0b' target=_blank style='color:#2F92EE;'>#肾上腺#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=0, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=82417, encryptionId=ce478241e0b, topicName=肾上腺)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=8dba135, createdName=xuyong523, createdTime=Mon Nov 07 05:11:03 CST 2022, time=2022-11-07, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1445644, encodeId=48c81445644ce, content=<a href='/topic/show?id=643e5031124' target=_blank style='color:#2F92EE;'>#影像诊断#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=54, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=50311, encryptionId=643e5031124, topicName=影像诊断)], attachment=null, authenticateStatus=null, createdAvatar=http://thirdwx.qlogo.cn/mmopen/vi_32/DYAIOgq83erGh2JQt8g9L1dqpdLyJ7EDClYbBfjvngmKJ6Vn8jCDHuYvHH6ZLao7bSXVr4okhjNU9ojr0SZFxQ/132, createdBy=12ec5143276, createdName=12498fa0m12暂无昵称, createdTime=Sat Jul 30 02:11:03 CST 2022, time=2022-07-30, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1592119, encodeId=c1a5159211912, content=<a href='/topic/show?id=a6709164e74' target=_blank style='color:#2F92EE;'>#诊断要点#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=50, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=91647, encryptionId=a6709164e74, topicName=诊断要点)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=11ae18086679, createdName=俅侠, createdTime=Sat Jul 30 02:11:03 CST 2022, time=2022-07-30, status=1, ipAttribution=)]
    2022-07-30 俅侠

    #诊断要点#

    0

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