PDF(Pubmed)
Abstract：
BACKGROUND: To investigate the peripheral nervous system involvement in S sialidosis with typical features of myoclonus, seizure, and giant waves in somatosensory evoked potentials suggesting hyperexcitability in the central nervous system.
METHODS: The clinical presentation of patients with genetically confirmed sialidosis was recorded. Neurophysiological studies, including nerve conduction studies (NCSs), F-wave studies, and needle electromyography (EMG), were performed on these patients.
RESULTS: Six patients (M/F: 2:4) were recruited. In addition to the classical presentation, intermittent painful paresthesia was noted in four patients, and three of whom reported it as the earliest symptom. In the NCSs, one patient had reduced compound muscle action potential amplitudes in the right ulnar nerve, while another patient had prolonged distal motor latency in the bilateral tibial and peroneal nerves. Prolonged F-wave latency (83.3%), repeater F-waves (50%), and neurogenic polyphasic waves in EMG (in 2 out of 3 examined patients) were also noted. Interestingly, a very late response was noted in the F-wave study of all patients, probably indicating lesions involving the proximal peripheral nerve or spinal cord.
CONCLUSIONS: In addition to the central nervous system, the peripheral nervous system is also involved in sialidosis, with corresponding clinical symptoms. Further study on these phenomena is indicated.
METHODS: The clinical presentation of patients with genetically confirmed sialidosis was recorded. Neurophysiological studies, including nerve conduction studies (NCSs), F-wave studies, and needle electromyography (EMG), were performed on these patients.
RESULTS: Six patients (M/F: 2:4) were recruited. In addition to the classical presentation, intermittent painful paresthesia was noted in four patients, and three of whom reported it as the earliest symptom. In the NCSs, one patient had reduced compound muscle action potential amplitudes in the right ulnar nerve, while another patient had prolonged distal motor latency in the bilateral tibial and peroneal nerves. Prolonged F-wave latency (83.3%), repeater F-waves (50%), and neurogenic polyphasic waves in EMG (in 2 out of 3 examined patients) were also noted. Interestingly, a very late response was noted in the F-wave study of all patients, probably indicating lesions involving the proximal peripheral nerve or spinal cord.
CONCLUSIONS: In addition to the central nervous system, the peripheral nervous system is also involved in sialidosis, with corresponding clinical symptoms. Further study on these phenomena is indicated.
摘要：
背景：为了研究具有典型肌阵挛性特征的S型唾液中毒的周围神经系统受累，癫痫发作,体感诱发电位中的巨波表明中枢神经系统的兴奋过度。
方法：记录遗传证实为唾液症的患者的临床表现。神经生理学研究,包括神经传导研究（NCSs），F波研究,和针肌电图（EMG），对这些患者进行。
结果：招募了6名患者（M/F：2：4）。除了经典的演讲，在四名患者中发现间歇性疼痛感觉异常，其中三个人报告说这是最早的症状。在NCSs中，一名患者右尺神经的复合肌肉动作电位振幅降低，而另一名患者双侧胫神经和腓骨神经的远端运动潜伏期延长。延长F波延迟（83.3%），中继器F波(50%),还注意到EMG中的神经源性多相波（3名接受检查的患者中有2名）。有趣的是,在所有患者的F波研究中发现了一个非常晚的反应，可能表明病变涉及近端周围神经或脊髓。
结论：除了中枢神经系统，周围神经系统也与唾液中毒有关，有相应的临床症状。指出了对这些现象的进一步研究。
方法：记录遗传证实为唾液症的患者的临床表现。神经生理学研究,包括神经传导研究（NCSs），F波研究,和针肌电图（EMG），对这些患者进行。
结果：招募了6名患者（M/F：2：4）。除了经典的演讲，在四名患者中发现间歇性疼痛感觉异常，其中三个人报告说这是最早的症状。在NCSs中，一名患者右尺神经的复合肌肉动作电位振幅降低，而另一名患者双侧胫神经和腓骨神经的远端运动潜伏期延长。延长F波延迟（83.3%），中继器F波(50%),还注意到EMG中的神经源性多相波（3名接受检查的患者中有2名）。有趣的是,在所有患者的F波研究中发现了一个非常晚的反应，可能表明病变涉及近端周围神经或脊髓。
结论：除了中枢神经系统，周围神经系统也与唾液中毒有关，有相应的临床症状。指出了对这些现象的进一步研究。
