Shields Lisa B E, Iyer Vasudeva G, Zhang Yi Ping, Shields Christopher B
Norton Neuroscience Institute, Norton Healthcare, Louisville, Kentucky, USA.
Neurodiagnostic Center of Louisville, Louisville, Kentucky, USA.
Case Rep Neurol. 2022 Mar 10;14(1):111-116. doi: 10.1159/000522574. eCollection 2022 Jan-Apr.
The diagnosis of comorbid carpal tunnel syndrome (CTS) in patients with Charcot-Marie-Tooth (CMT) disease is challenging due to the overlapping symptoms and inconclusive electrodiagnostic studies (EDX). This case report is aimed at illustrating the value of ultrasonography (US) in a patient with CMT1 disease and comorbid CTS. A 28-year-old woman presented with symptoms of painful paresthesia and weakness of both hands. EDX demonstrated a demyelinating sensory-motor polyneuropathy in the upper and lower extremities, consistent with CMT1 disease. US showed an increased cross-sectional area (CSA) of the median nerve at the carpal tunnel inlet (CTI) with a significant drop in the diameter within the carpal tunnel, confirming concurrent CTS. Genetic testing confirmed PMP22 duplication consistent with CMT1A. Bilateral carpal tunnel releases were performed with partial symptom resolution within 3 weeks. Postoperative EDX demonstrated improved motor conduction across the wrist, but the sensory potentials continued to be unrecordable. US showed a significant reversal of the diameter-drop of the median nerve within the carpal tunnel and decrease in CSA at the CTI. US imaging is a valuable technique for identifying comorbid CTS in patients with CMT and directing appropriate treatment.
由于症状重叠和电诊断研究（EDX）结果不明确，诊断患有夏科-马里-图思（CMT）病的患者合并腕管综合征（CTS）具有挑战性。本病例报告旨在说明超声检查（US）在一名患有CMT1病合并CTS患者中的价值。一名28岁女性出现双手疼痛性感觉异常和无力症状。EDX显示上下肢存在脱髓鞘感觉运动性多发性神经病，与CMT1病相符。US显示腕管入口（CTI）处正中神经横截面积（CSA）增大，而腕管内直径显著减小，证实并发CTS。基因检测证实PMP22重复，与CMT1A相符。进行了双侧腕管松解术，3周内部分症状得到缓解。术后EDX显示腕部运动传导改善，但感觉电位仍无法记录。US显示腕管内正中神经直径减小情况显著逆转，CTI处CSA减小。US成像对于识别CMT患者合并的CTS以及指导适当治疗是一项有价值的技术。
