摘要:
目的：阐述婴幼儿神经性肌强直临床特点，提高对本病的认识。方法：描述神经性肌强直患儿临床症状体征、相关检查及对奥卡西平治疗反应性，长期观察预后情况。结果：本病以肌肉强直运动受限，睡眠中不能放松伴多汗为主要症状，肌电图检查呈强直性放电，目前尚无基因检测指标，生化及头颅影像学检查基本正常。结论：婴幼儿神经性肌强直对小剂量奥卡西平治疗反应良好，治疗前应排除肿瘤性疾病。
Abstract:
Objective: To improve the recognition of neuromyotonia by the clinical characters of a patient. Methods: We described the clinical symptoms and signs, relative examinations, and the responsiv-ity to oral oxcarbazepine, and gave a long-term follow up. Results: Neuromyotonia manifested in clinical symptoms as muscle rigidity limiting to movement and without loose in sleeping accom-panied over sweating, and showed spasticly discharge in electromyography. Now there are no di-agnostic criteria with genes for neuromyotonia. The chemical examination and cephal-icono- graphy are normal. Conclusion: Infant with neuromyotonia responses well to low dose Oxcarbazepine, and neoplastic disease should be ruled out before treatment.