Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.
Department of Laboratory Medicine and Pathology, Mayo Clinic Rochester, Minnesota, USA.
Muscle Nerve. 2022 Oct;66(4):479-486. doi: 10.1002/mus.27687. Epub 2022 Aug 11.
INTRODUCTION/AIMS: Carpal and cubital tunnel syndrome (CTS, CuTS) are common among patients with hereditary neuropathy with liability to pressure-palsies (HNPP) and Charcot-Marie-Tooth type 1A (CMT1A) and may impact quality of life. We aimed to evaluate the utility of nerve decompression surgeries in these patients.
Medical records were reviewed for patients with PMP22 mutations confirmed in Mayo Clinic laboratories from January 1999 to December 2020, who had CTS and CuTS and underwent surgical decompression.
CTS occurred in 53.3% of HNPP and 11.5% of CMT1A, while CuTS was present in 43.3% of HNPP and 5.8% of CMT1A patients. CTS decompression occurred in 10-HNPP and 5-CMT1A patients, and CuTS decompression with/without transposition was performed in 5-HNPP and 1-CMT1A patients. In HNPP, electrodiagnostic studies identified median neuropathy at the wrist in 9/10 patients and ultrasound showed focal enlargements at the carpal and cubital tunnels. In CMT1A, median and ulnar sensory responses were all absent, and the nerves were diffusely enlarged. After CTS surgery, pain, sensory loss, and strength improved in 4/5 CMT1A, and 6/10 HNPP patients. Of clinical, electrophysiologic and ultrasound findings, only activity-provoked features significantly correlated with CTS surgical benefit in HNPP patients (odds ratio = 117.0:95% confidence interval, 1.94 > 999.99, p = 0.01). One CMT1A and one HNPP patient improved with CuTS surgery while 2 HNPP patients worsened.
CTS symptom improvement post-surgery can be seen in CMT1A and (less frequent) in HNPP patients. CuTS surgery commonly worsened course in HNPP. Activity-provoked symptoms in HNPP best informed benefits from CTS surgery.
简介/目的：腕管和肘管综合征（CTS，CuTS）在遗传性神经病伴易压迫性神经病（HNPP）和 1A 型 Charcot-Marie-Tooth 病（CMT1A）患者中较为常见，可能会影响生活质量。我们旨在评估这些患者神经减压手术的效果。
对 1999 年 1 月至 2020 年 12 月在 Mayo 诊所实验室证实存在 PMP22 突变的患者进行了回顾性分析，这些患者患有 CTS 和 CuTS，并接受了手术减压。
HNPP 患者中 CTS 发生率为 53.3%，CMT1A 患者为 11.5%，而 HNPP 患者 CuTS 发生率为 43.3%，CMT1A 患者为 5.8%。10 例 HNPP 和 5 例 CMT1A 患者进行了 CTS 减压，5 例 HNPP 和 1 例 CMT1A 患者进行了 CuTS 减压和（或）转位。在 HNPP 中，电诊断研究显示 10 例患者中有 9 例在腕部正中神经病变，超声显示腕管和肘管有局灶性扩大。在 CMT1A 中，正中神经和尺神经感觉反应均缺失，神经弥漫性增粗。在 CTS 手术后，5 例 CMT1A 和 6 例 HNPP 患者的疼痛、感觉丧失和力量均有改善。在临床、电生理和超声检查中，只有活动诱发的特征与 HNPP 患者 CTS 手术获益显著相关（优势比=117.0：95%置信区间，1.94>999.99，p=0.01）。1 例 CMT1A 和 1 例 HNPP 患者的 CuTS 手术效果改善，而 2 例 HNPP 患者病情恶化。
CMT1A 和（较少见）HNPP 患者术后 CTS 症状可改善。HNPP 患者 CuTS 手术通常会使病情恶化。HNPP 患者活动诱发的症状可提供最佳的 CTS 手术获益信息。
