婴幼儿神经性肌强直1例
An Infant with Neuromyotonia

DOI: 10.12677/JPS.2014.33003, PP. 15-18

Keywords: 婴幼儿，神经性肌强直，奥卡西平
Infant, Neuromyotonia, Oxcarbazepine

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Abstract:

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.

References

[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

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