Bin Waqar Syed Hamza
Internal Medicine, Civil Hospital Karachi, Dow University of Health Sciences, Karachi, PAK.
Cureus. 2019 May 17;11(5):e4687. doi: 10.7759/cureus.4687.
Isaacs' syndrome is a rare neuromuscular hyperexcitable syndrome with myriad manifestations ranging from motor and sensory to autonomic presentations, leading to diagnostic challenges. Among the commonest forms, a tetrad of stiffness, myokymia (muscle twitching at rest), weakness, and psuedomyotonia (delayed muscle relaxation) is almost always present. Herein, we report a case of a 16-year-old male who presented to the neurology consult service with intense wave-like pain in the lower extremities with desquamating rash and cold-induced allodynia. Investigations were significant for raised CK levels, positive autoimmune panel, and anti-voltage-gated potassium channel (anti-VGKC) antibody that is involved in 35% reported cases of Isaacs' syndrome, with electrodiagnostic studies peculiar for Isaacs syndrome with negative imaging results. He was followed up on a long cocktail course of immunosuppressive, anticonvulsive medications, and immunoadsorption plasmapheresis (IAP) for 11 months with complete remission.
艾萨克斯综合征是一种罕见的神经肌肉兴奋性亢进综合征,有从运动、感觉至自主神经表现的多种症状,这导致了诊断上的挑战。在最常见的形式中,几乎总会出现僵硬、肌束震颤(静息时肌肉抽搐)、无力和假性肌强直(肌肉延迟松弛)这一组四联征。在此,我们报告一例16岁男性病例,该患者因下肢剧烈的波浪样疼痛、脱屑性皮疹和冷诱发的感觉异常前来神经科会诊。检查结果显示肌酸激酶水平升高、自身免疫指标阳性以及抗电压门控钾通道(anti-VGKC)抗体阳性,在报告的艾萨克斯综合征病例中,35%的病例涉及该抗体,其电诊断研究具有艾萨克斯综合征的特征,影像学检查结果为阴性。他接受了长达11个月的免疫抑制、抗惊厥药物以及免疫吸附血浆置换(IAP)联合治疗,最终完全缓解。