作为CANVAS的初始表现的双边前庭病变
Carlos R Gordon1, Roy Zaltzman2, Dario Geisinger3
1Department of Neurology, Meir Medical Center, Kfar Saba, Israel; Faculty of Medicine, Tel Aviv University, Israel.
Journal of the neurological sciences
|April 5, 2024
概括
带有神经病变和前置体缩综合征 (CANVAS) 的大脑缩症可能最初呈现为孤立的双边前置病变 (BVP). 在BVP病例中早期考虑CANVAS有助于诊断,即使没有其他症状.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 神经学 神经学
背景情况:
- 带有神经病变和前立腺缩综合征 (CANVAS) 的大脑缩是一种由RFC1基因重复扩张引起的自体相衰退性疾病.
- 诊断可能是具有挑战性的,当只有一个三个核心症状 (无氧,神经病变,前庭缩症) 的存在.
- 孤立的双边垂体病变 (BVP) 病例进展到CANVAS以前没有被记录.
研究的目的:
- 为了突出展示CANVAS作为孤立的BVP的呈现.
- 强调在特异性BVP病例中考虑CANVAS的重要性.
- 报告BVP进展到完全CANVAS表型的病例.
主要方法:
- 一系列病例报告了四名患有慢性失衡和BVP的患者.
- 在几年的临床随访.
- 对RFC1重复扩展进行基因测试.
主要成果:
- 四名患者最初出现了慢性失衡和BVP.
- 随着时间的推移,这些患者发展出小脑和神经病缺陷.
- 在所有报告的病例中,基因测试证实了RFC1重复扩张.
结论:
- 在未知原因的BVP患者中,即使没有其他标志性症状,也应该怀疑CANVAS.
- 显著比例的异常性BVP病例可能代表未被诊断的CANVAS.
- 这扩大了已知的RFC1相关疾病的临床谱.
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