多重的远端大腿骨髓骨质状瘤包围着尾神经血管束
Amir Habeeb1, Jaroszlav Roszpopa2, Ali Arnaout2
1Otolaryngology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, GBR.
Cureus
|November 6, 2023
概括
多重遗传性外位症综合征是一种罕见的遗传性疾病,会导致良性骨瘤,这些骨瘤可以变成癌症. 这一案例突出了由于骨髓瘤而导致的神经血管压缩的手术减压.
科学领域:
- 遗传学 是一个遗传学.
- 整形外科 整形外科 整形外科
- 在瘤学瘤学.
背景情况:
- 多重遗传性外位症综合征 (MHE) 是一种罕见的自体主导性疾病,大约影响5万个个体中的1个,主要是男性.
- 具有多重骨质瘤 (良性骨瘤) 的发展特征,MHE具有与外静止 (EXT) 信号通路突变相关的遗传基础.
- 虽然骨髓瘤通常是良性的,但有1-5%的恶性转变为骨髓瘤的风险,需要仔细监测.
研究的目的:
- 介绍一个17岁的男性MHES病例,该病例呈现出严重的疼痛和形.
- 突出骨髓瘤压缩重要神经血管结构所带来的诊断和治疗挑战.
- 讨论对患者管理的影响以及对恶性转变查的进一步研究的需要.
主要方法:
- 一个17岁的男性有症状的MHES病例报告.
- 使用磁共振成像 (MRI) 进行诊断成像,以评估骨髓瘤大小和神经血管压缩.
- 使用多学科方法切除骨质瘤的手术切除.
- 切除组织的组织病理学检查,以排除恶性瘤.
主要成果:
- 患者在左下大腿骨中表现出疼痛和解剖学变形.
- 核磁共振扫描证实了多重骨髓瘤,导致波神经血管束的显著压缩.
- 手术减压成功,组织学分析没有发现恶性瘤的证据.
- 患者的症状在手术后得到缓解.
结论:
- 在MHES中,手术干预是导致神经血管损害的症状性骨髓瘤的可行选择.
- 虽然骨质带有恶性转变的风险,但这种病例显示出良性结局.
- 目前还没有关于检测MHES患者恶性变化的最佳监测策略的建立共识.
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