JPS  >> Vol. 3 No. 3 (August 2015)

作者:  

杨广娥:安徽省儿童医院,安徽 合肥

关键词:
婴幼儿神经性肌强直奥卡西平Infant Neuromyotonia Oxcarbazepine

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。

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.

文章引用:
杨广娥. 婴幼儿神经性肌强直1例[J]. 生理学研究, 2015, 3(3): 15-18. http://dx.doi.org/10.12677/JPS.2015.33003

参考文献

[1] 安坤, 周文斌. 神经性肌强直研究进展. 中国神经免疫学和神经病学杂志[J]. 2013, 20(4): 281-284.
[2] Falace, A., Striano, P., Manganelli, F., et al. (2007) Inherited Neuromyotonia: A Clinical and Genetic Study of a Family. Neu-romuscular Disorders, 17, 23-27.
http://dx.doi.org/10.1016/j.nmd.2006.09.014
[3] 伍文清, 陈伟, 李继梅, 等. 中国遗传性神经性肌强直家系调查和遗传学特征分析[J]. 临床和实验医学杂志, 2011(10): 1653-1654, 1658.
[4] Newsom-Davis, J., Mills, K.R., et al. (1993) Immunological Associations of Acquired Neuromyotonia (Isaacs’ Syndrome) of Five Cases and Literature Review. Brain, 116, 453-469.
http://dx.doi.org/10.1093/brain/116.2.453
[5] Hart, I.K., Waters, C., Vincent, A., et al. (1997) Autoantibodies Detected to Expressed K+ Channels Are Implicated in Neuromyotonia. Annals of Neurology, 241, 238-246.
http://dx.doi.org/10.1002/ana.410410215
[6] 马维娅, 吴士文, 陈振需. 神经性肌强直[J]. 中国神经免疫学和神经病学杂志, 2008(15): 214-217.
[7] 贾宁, 韩锟. 伴甲状腺功能亢进的神经性肌强直1例[J]. 北京医学, 2014, 36(5): 412-413.
[8] Sanadze, A.G., Sidney, D.V., Kasatkina, L.F., et al. (2010) Neuromyotonia and Myasthenia in a Patient with Thymoma. Zh Nevrol Psikhiatr Im S S Korsakova, 110, 101-103.
[9] Van Waveren, M., Herzau, V. and Besch, D. (2009) Ocular Neuromyotonia after Radiation Therapy. Der Ophthalmologe, 106, 47-51.
http://dx.doi.org/10.1007/s00347-008-1769-0
[10] Merchut, M.P. (2010) Management of Voltage-Gated Potas-sium Channel Antibody Disorders. Neurologic Clinics, 28, 941-959.
http://dx.doi.org/10.1016/j.ncl.2010.03.024
[11] Paliwal, V.K. (2010) Neuromyotonia Masquerading as Tetanus. Journal of Clinical Neuroscience, 17, 814-815.
http://dx.doi.org/10.1016/j.jocn.2009.10.025
[12] O’Sullivan, S.S., Mullins, G.M., Neligan, A., et al. (2007) Ac-quired Generalized Neuromyotonia, Cutaneous Lupus Erythematosus and Alopecia Areata in a Patient with Myasthenia Gravis. Clinical Neurology and Neurosurgery, 109, 374-375.
http://dx.doi.org/10.1016/j.clineuro.2006.12.010