查尔科-玛丽-牙型2CC错误诊断为慢性炎症性脱叶林性多基基隆性神经病变
Isabella Di Sarno1, Stefano Tozza2, Filippo Maria Santorelli3
1Department of Neurosciences, Reproductive and Odonstomatological Sciences, University Federico II, Via Sergio Pansini, Naples, 5 - 80131, Italy.
概括
本案例研究突出了Charcot-Marie-Tooth2型CC (CMT2CC) 异常呈现近位弱点,导致错误诊断为慢性炎症性脱髓化多神经病变 (CIDP). 基因检测发现了一种新的NEFH基因突变,证实了CMT2CC.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 神经科学是一个神经科学.
背景情况:
- 查洛-玛丽-牙 (CMT) 是一组遗传性神经病变,通常会导致远部肌肉衰弱和感官丧失.
- 典型的CMT表现可能导致诊断挑战和错误诊断,通常是慢性炎症性脱髓化多神经病变 (CIDP).
研究的目的:
- 描述一个CMT型2CC (CMT2CC) 病例,表现为异常近位肌肉衰弱和模两可的电生理学发现.
- 为了说明这种非典型的CMT病例如何被误诊为CIDP.
主要方法:
- 一名30岁的女性呈现出近端下肢软弱,最初被诊断为CIDP,并未成功地用IVIg治疗.
- 电生理学重新评估和检查她的儿子发现发现暗示遗传性神经病变.
- 目标下一代测序 (NGS) 确定了NEFH基因中的新突变,证实了CMT2CC.
主要成果:
- 患者的初始症状和电生理学结果模仿了CIDP,导致了不正确的诊断.
- 遗传分析显示,在患者和她的儿子的NEFH基因中,存在异质合体框架转移突变 (c.3057dupG; p.K1020fs*43).
- 这种突变被证实是CMT2CC的原因.
结论:
- 遗传性神经病变中的非典型的临床和电生理特征可能会使诊断复杂化.
- 应考虑CMT2CC患者呈现近端肌肉衰弱和模两可的电生理学发现,即使怀疑CIDP.
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