Department of Physiology, College of Medicine, University of the Philippines Manila, Philippines.
Department of Epidemiology and Biostatistics, College of Public Health, University of the Philippines Manila, Philippines.
J Clin Neuromuscul Dis. 2023 Dec 1;25(2):81-84. doi: 10.1097/CND.0000000000000459.
Isaac syndrome is one of the rare peripheral nerve hyperexcitability (PNH) syndromes, which manifests with gross fasciculations, muscle undulation, twitching, and cramps, with or without autonomic and sensory symptoms. The diagnosis relies on characteristic electromyogram findings and the presence of anti-leucine-rich glial inactivated 1 and anti-contactin-associated protein 2 antibodies in the serum. Here, we report the case of a 21-year-old woman, who presented with extremities and tongue myokymia whose electromyogram findings were compatible with PNH, albeit seronegative for antibodies. Neuromuscular ultrasound was performed showing high-frequency rotatory, to-and-fro, high-amplitude movement of superficial and deep muscle fascicles, more prominent in the proximal than distal muscles. Neuromuscular ultrasound may be a useful adjunct in the diagnosis of PNH.
艾萨克综合征是一种罕见的周围神经兴奋性过高（PNH）综合征，其表现为明显的肌束颤动、肌肉波动、抽搐和痉挛，伴有或不伴有自主神经和感觉症状。诊断依赖于特征性肌电图发现和血清中存在抗亮氨酸丰富的神经胶质失活 1 抗体和抗接触蛋白相关蛋白 2 抗体。在这里，我们报告了一例 21 岁女性患者，表现为四肢和舌肌肌束震颤，其肌电图表现符合 PNH，但抗体阴性。神经肌肉超声显示，浅肌和深肌束高频旋转、往返、高幅度运动，在近端肌肉比远端肌肉更为明显。神经肌肉超声可能是诊断 PNH 的有用辅助手段。
