Chen Zhiyong, Saini Monica, Neo Shermyn X M, Ng Peng-Soon, Koh Jasmine S, Prasad Kalpana, Verma Kamal, Davila Sonia, Lim Weng Khong, Phua Ziqun, Li Michelle M, Kang Corrine, Tay Karine S S, Chai Josiah Y H
Department of Neurology, National Neuroscience Institute, Singapore, Singapore.
Singhealth Duke-National University of Singapore (NUS) Institute of Precision Medicine, Singapore, Singapore.
Front Neurol. 2022 Feb 25;13:826634. doi: 10.3389/fneur.2022.826634. eCollection 2022.
Charcot-Marie-Tooth type 1A (CMT1A) is typically characterised as a childhood-onset, symmetrical, length-dependent polyneuropathy with a gradual progressive clinical course. Acute to subacute neurological deterioration in CMT1A is rare, and has been reported secondary to overlap pathologies including inflammatory neuropathy. We identified two patients with CMT1A who presented with acute to subacute, atraumatic, entrapment neuropathies as an initial symptom. A superimposed inflammatory neuropathy was excluded. Both patients had a diffuse demyelinating polyneuropathy, with markedly low motor nerve conduction velocities (<20 m/s). In both patients, we demonstrated symptomatic and asymptomatic partial conduction blocks at multiple entrapment sites. Nerve ultrasound findings in our patients demonstrated marked diffuse nerve enlargement, more pronounced at non-entrapment sites compared to entrapment sites. We discuss ways to distinguish this condition from its other differentials. We propose pathophysiological mechanisms underlying this condition. We propose that CMT1A with acute to subacute, atraumatic, entrapment neuropathies to be a distinct phenotypic variant of CMT1A.
1型遗传性运动感觉神经病A亚型（CMT1A）的典型特征是起病于儿童期，呈对称性、长度依赖性多发性神经病，临床病程逐渐进展。CMT1A出现急性至亚急性神经功能恶化的情况较为罕见，据报道继发于包括炎性神经病在内的重叠病变。我们发现了两名CMT1A患者，他们以急性至亚急性、非创伤性的卡压性神经病作为首发症状。排除了叠加的炎性神经病。两名患者均患有弥漫性脱髓鞘性多发性神经病，运动神经传导速度明显降低（<20米/秒）。在两名患者中，我们均在多个卡压部位发现了有症状和无症状的部分传导阻滞。我们患者的神经超声检查结果显示神经明显弥漫性增粗，与卡压部位相比，在非卡压部位更为明显。我们讨论了将这种情况与其他鉴别诊断区分开来的方法。我们提出了这种情况的病理生理机制。我们认为，伴有急性至亚急性、非创伤性卡压性神经病的CMT1A是CMT1A的一种独特表型变异。
