Gonzalez Primomo Silvia N, Blas Leandro, Bertotti Alicia C, Ameri Carlos
Uroneurophysiology and Pelvic Floor Laboratory-German Hospital-C.A.B.A., Buenos Aires, Argentina.
Neurourol Urodyn. 2018 Jan;37(1):496-500. doi: 10.1002/nau.23336. Epub 2017 Jun 29.
Isaacs's syndrome (IS), is a rare neurological disorder, characterized by sustained muscular activity, fasciculations, cramps, myokymia, excessive sweating, and occasional elevation of creatine phosphokinase (CPK) enzyme.
To report our experience in patients with IS and urinary manifestations, describing clinical findings, test's results, and response to treatment. Methods An observational, retrospective analysis of patients with IS and urinary manifestations treated at German Hospital of Buenos Aires between 2001 and 2011 was done. Diagnosis was performed with clinical examination and electromyography (EMG) of external sphincter of the anus and/or urethra. Demographic, clinical, and treatment variables were analyzed. International Prognostic Scoring System (IPSS) at diagnosis and follow up was made.
Eleven IS patients were recruited, of whom 8 (72.72%) were females with a mean age 47.87 years (DS ± 13.95) and presented associated lower tract urinary symptoms (LUTS). Six of them (75%) had voiding and 2 (25%) filling symptoms. Urodynamic and electromyographic findings reproduced symptomatology in all patients. Patients with voiding symptomatology were treated with combination of alpha-blockers with benzodiazepines; membrane stabilizings agents; antiepileptics; neurotropic; corticoids; posterior tibial nerve stimulation and botulinum toxin, achieving improvement in 4/6. The two patients with storage symptoms were treated in first instance with anticholinergic drugs, one of which did not respond completely was added oral pentosansulfate and electrical stimulation, reversing the symptomatology. Four patients had associated pathologies: Hashimoto's thyroiditis; Sjögren's syndrome; dysautonomia, and myasthenia gravis.
In our experience, IS urinary manifestations are common and usually has a good evolution with adequate treatment for each patient.
艾萨克斯综合征（IS）是一种罕见的神经系统疾病，其特征为持续性肌肉活动、肌束震颤、痉挛、肌纤维颤搐、多汗，以及肌酸磷酸激酶（CPK）酶偶尔升高。
报告我们对患有IS及泌尿系统表现患者的诊治经验，描述临床发现、检查结果及治疗反应。方法对2001年至2011年在布宜诺斯艾利斯德国医院接受治疗的患有IS及泌尿系统表现的患者进行观察性回顾分析。通过对肛门和/或尿道外括约肌进行临床检查和肌电图（EMG）来进行诊断。分析人口统计学、临床和治疗变量。在诊断和随访时进行国际前列腺症状评分系统（IPSS）评估。
招募了11例IS患者，其中8例（72.72%）为女性，平均年龄47.87岁（标准差±13.95），并伴有下尿路症状（LUTS）。其中6例（75%）有排尿症状，2例（25%）有储尿症状。尿动力学和肌电图检查结果在所有患者中再现了症状。有排尿症状的患者接受α受体阻滞剂与苯二氮䓬类药物联合治疗；膜稳定剂；抗癫痫药；神经营养药；皮质类固醇；胫后神经刺激和肉毒杆菌毒素治疗，6例中有4例症状改善。2例有储尿症状的患者首先接受抗胆碱能药物治疗，其中1例未完全缓解，加用口服戊聚糖多硫酸酯和电刺激后，症状得到缓解。4例患者伴有相关疾病：桥本甲状腺炎；干燥综合征；自主神经功能障碍和重症肌无力。
根据我们的经验，IS的泌尿系统表现很常见，通常通过对每位患者进行适当治疗后病情会有良好转归。
