抗MuSK抗体阳性的重症肌无力合并Graves病一例
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摘要
<正>患者男性,24岁,因视物成双伴双眼上睑下垂22个月、加重6周,于2017年7月7日至河北省保定市第一中心医院就诊。22个月前(2015年9月)无明显诱因出现视物成双,自觉左眼不能外展,习惯性单眼视物,继而出现双眼上睑下垂,眼睑抬举费力,伴多汗、皮肤潮湿和手抖,无视力下降、视野缺损,无头痛、言语不清、张口困难、颈肌无力、肢体
引文
[1]Chinese Medical Association, Chinese Society of Neurology,Neuroimmunology Study Group; Neuroimmunology Branch ofChinese Society for Immunology. Chinese guidelines for thediagnosis and treatment of myasthenia gravis 2015[J].Zhonghua Shen Jing Ke Za Zhi, 2015, 48:934-940.[中华医学会神经病学分会神经免疫学组,中国免疫学会神经免疫学分会.中国重症肌无力诊断和治疗指南2015[J].中华神经科杂志,2015, 48:934-940.]
[2]Weissel M. Mild clinical expression of myasthenia gravisassociated with autoimmune thyroid disease[J]. J Clin ExpEndocrinol Metab, 1997, 82:3905-3906.
[3]Guptill JT, Sanders DB, Evoli A. Anti-MuSK antibodymyasthenia gravis:clinical findings and response to treatmentin two large cohorts[J]. Muscle Nerve, 2011, 44:36-40.
[4]Zhang YY, Jiang YR, Wang WQ. Approach to the patients ofhyperthyroidism with myasthenia gravis[J]. Zhonghua Nei FenMi Dai Xie Za Zhi, 2012, 28:1020-1022[.张祎昀,蒋怡然,王卫庆.甲亢合并重症肌无力患者的临诊应对[J].中华内分泌代谢杂志, 2012, 28:1020-1022.]
[5]Xu B, Zhang LY, Zhang YQ. The new development ofautoantibodies and myasthenia gravis[J]. Guo Ji Mian Yi Xue ZaZhi, 2011, 34:276-280[.许博,张临友,张永强.自身抗体与重症肌无力的研究新进展[J].国际免疫学杂志, 2011, 34:276-280.]
[6]Hoch W, McConville J, Helms S, Newsom-Davis J, Melms A,Vincent A. Auto-antibodies to the receptor kinase MuSK inpatients with myasthenia gravis without acetylcholine receptorantibodies[J]. Nat Med, 2001, 7:365-368.
[7]Morren J, Li Y. Myasthenia gravis with muscle-specific tyrosinekinase antibodies:a narrative review[J]. Muscle Nerve, 2018,58:344-358.
[8]Wolfe GI, Oh SJ. Clinical phenotype of muscle-specific tyrosinekinase-antibody-positive myasthenia gravis[J]. Ann NY AcadSci, 2008, 1132:71-75.
[9]Oh SJ. Muscle-specific receptor tyrosine kinase antibodypositive myasthenia gravis current status[J]. J Clin Neurol,2009, 5:53-64.
[10]Evoli A, Tonali PA, Padua L, Monaco ML, Scuderi F, BatocchiAP, Marino M, Bartoccioni E. Clinical correlates with anti-MuSK antibodies in generalized seronegative myasthenia gravis[J]. Brain, 2003, 126(Pt 10):2304-2311.
[11]Zhou L, Mcconville J, Chaudhry V, Adams RN, Skolasky RL,Vincent A, Drachman DB. Clinical comparison of muscle-specific tyrosine kinase(MuSK)antibody-positive and-negativemyasthenic patients[J]. Muscle Nerve, 2004, 30:55-60.
[12]Pasnoor M, Wolfe GI, Nations S, Trivedi J, Barohn RJ,Herbelin L, McVey A, Dimachkie M, Kissel J, Walsh R, AmatoA, Mozaffar T, Hungs M, Chui L, Goldstein J, Novella S, BurnsT, Phillips L, Claussen G, Young A, Bertorini T, Oh S. Clinicalfindings in MuSK-antibody positive myasthenia gravis:a U.S.[experience[J]. Muscle Nerve, 2010, 41:370-374.
[13]Sanders DB, El-Salem K, Massey JM, McConville J, Vincent A.Clinical aspects of MuSK antibody positive seronegative MG[[J]. Neurology, 2003, 60:1978-1980.
[14]Hosaka A, Takuma H, Ohta K, Tamaoka A. An ocular form ofmyasthenia gravis with a high titer of anti-MuSK antibodiesduring a long-term follow-up[J]. Intern Med, 2012, 51:3077-3079.
[15]Zouvelou V, Papathanasiou A, Koros C, Rentzos M, Zambelis T,Stamboulis E. Pure ocular anti-MuSK myasthenia under no[immunosuppressive treatmen[tJ]. Muscle Nerve, 2013, 48:464.
[16]Vincent A, Leite MI, Farrugia ME, Jacob S, Viegas S, ShiraishiH, Benveniste O, Morgan BP, Hilton-Jones D, Newsom-Davis J,Beeson D, Willcox N. Myasthenia gravis seronegative foracetylcholine receptor antibodies[J]. Ann NY Acad Sci, 2008,1132:84-92.
[17]Farrugia ME, Robson MD, Clover L, Anslow P, Newsom-DavisJ, Kennett R, Hilton-Jones D, Matthews PM, Vincent A. MRIand clinical studies of facial and bulbar muscle involvement inMuSK antibody-associated myasthenia gravis[J]. Brain, 2006,129(Pt 6):1481-1492.
[18]Kitamura E, Takiyama Y, Nakamura M, Iizuka T, Nishiyama K.Reversible tongue muscle atrophy accelerated by early initiationof immunotherapy in anti-MuSK myasthenia gravis:a case report[J]. J Neurol Sci, 2016, 360:10-12.
[19]Hatanaka Y, Hemmi S, Morgan MB, Scheufele ML, ClaussenGC, Wolfe GI, Oh SJ. Nonresponsiveness to anticholinesteraseagents in patients with MuSK-antibody-positive MG[J].Neurology, 2005, 65:1508-1509.
[20]Shin HY, Park HJ, Lee HE, Choi YC, Kim SM. Clinical andelectrophysiologic responses to acetylcholinesterase inhibitors inMuSK-antibody-positive myasthenia gravis:evidence forcholinergic neuromuscular hyperactivity[J]. J Clin Neurol,2014, 10:119-124.
[21]Nikolic AV, Basta I, Stojanovic VR, Stevic Z, Lavrnic D.Electrophysiological profile of the patients with MuSK positivemyasthenia gravis[J]. Neurol Res, 2014, 36:945-949.
[22]Padua L, Tonali P, Aprile I, Caliandro P, Bartoccioni E, EvoliA. Seronegative myasthenia gravis:comparison ofneurophysiological picture in MuSK+and MuSK-patients[J].Eur J Neurol, 2006, 13:273-276.
[23]Stickler DE, Massey JM, Sanders DB. MuSK-antibody positivemyasthenia gravis:clinical and electrodiagnostic patterns[J].Clin Neurophysiol, 2005, 116:2065-2068.
[24]Oh SJ, Hatanaka Y, Hemmi S, Young AM, Scheufele ML,Nations SP, Lu L, Claussen GC, Wolfe GI. Repetitive nervestimulation of facial muscles in MuSK antibody-positivemyasthenia gravis[J]. Muscle Nerve, 2006, 33:500-504.
[25]Kim SW, Sunwoo MK, Kim SM, Shin HY, Sunwoo IN.Repetitive nerve stimulation in MuSK-antibody-positivemyasthenia gravis[J]. J Clin Neurol, 2017, 13:287-292.
[26]Sanders DB, Wolfe GI, Benatar M, Evoli A, Gilhus NE, Illa I,Kuntz N, Massey JM, Melms A, Murai H, Nicolle M, Palace J,Richman DP, Verschuuren J, Narayanaswami P. Internationalconsensus guidance for management of myasthenia gravis:executive summary[J]. Neurology, 2016, 87:419-425.
[27]Hong YH, Sung JJ. Auto-reactive B cells in MuSK myastheniagravis[J]. Neuroimmunol Neuroinflammation, 2016, 3:196-197.
[2]Weissel M. Mild clinical expression of myasthenia gravisassociated with autoimmune thyroid disease[J]. J Clin ExpEndocrinol Metab, 1997, 82:3905-3906.
[3]Guptill JT, Sanders DB, Evoli A. Anti-MuSK antibodymyasthenia gravis:clinical findings and response to treatmentin two large cohorts[J]. Muscle Nerve, 2011, 44:36-40.
[4]Zhang YY, Jiang YR, Wang WQ. Approach to the patients ofhyperthyroidism with myasthenia gravis[J]. Zhonghua Nei FenMi Dai Xie Za Zhi, 2012, 28:1020-1022[.张祎昀,蒋怡然,王卫庆.甲亢合并重症肌无力患者的临诊应对[J].中华内分泌代谢杂志, 2012, 28:1020-1022.]
[5]Xu B, Zhang LY, Zhang YQ. The new development ofautoantibodies and myasthenia gravis[J]. Guo Ji Mian Yi Xue ZaZhi, 2011, 34:276-280[.许博,张临友,张永强.自身抗体与重症肌无力的研究新进展[J].国际免疫学杂志, 2011, 34:276-280.]
[6]Hoch W, McConville J, Helms S, Newsom-Davis J, Melms A,Vincent A. Auto-antibodies to the receptor kinase MuSK inpatients with myasthenia gravis without acetylcholine receptorantibodies[J]. Nat Med, 2001, 7:365-368.
[7]Morren J, Li Y. Myasthenia gravis with muscle-specific tyrosinekinase antibodies:a narrative review[J]. Muscle Nerve, 2018,58:344-358.
[8]Wolfe GI, Oh SJ. Clinical phenotype of muscle-specific tyrosinekinase-antibody-positive myasthenia gravis[J]. Ann NY AcadSci, 2008, 1132:71-75.
[9]Oh SJ. Muscle-specific receptor tyrosine kinase antibodypositive myasthenia gravis current status[J]. J Clin Neurol,2009, 5:53-64.
[10]Evoli A, Tonali PA, Padua L, Monaco ML, Scuderi F, BatocchiAP, Marino M, Bartoccioni E. Clinical correlates with anti-MuSK antibodies in generalized seronegative myasthenia gravis[J]. Brain, 2003, 126(Pt 10):2304-2311.
[11]Zhou L, Mcconville J, Chaudhry V, Adams RN, Skolasky RL,Vincent A, Drachman DB. Clinical comparison of muscle-specific tyrosine kinase(MuSK)antibody-positive and-negativemyasthenic patients[J]. Muscle Nerve, 2004, 30:55-60.
[12]Pasnoor M, Wolfe GI, Nations S, Trivedi J, Barohn RJ,Herbelin L, McVey A, Dimachkie M, Kissel J, Walsh R, AmatoA, Mozaffar T, Hungs M, Chui L, Goldstein J, Novella S, BurnsT, Phillips L, Claussen G, Young A, Bertorini T, Oh S. Clinicalfindings in MuSK-antibody positive myasthenia gravis:a U.S.[experience[J]. Muscle Nerve, 2010, 41:370-374.
[13]Sanders DB, El-Salem K, Massey JM, McConville J, Vincent A.Clinical aspects of MuSK antibody positive seronegative MG[[J]. Neurology, 2003, 60:1978-1980.
[14]Hosaka A, Takuma H, Ohta K, Tamaoka A. An ocular form ofmyasthenia gravis with a high titer of anti-MuSK antibodiesduring a long-term follow-up[J]. Intern Med, 2012, 51:3077-3079.
[15]Zouvelou V, Papathanasiou A, Koros C, Rentzos M, Zambelis T,Stamboulis E. Pure ocular anti-MuSK myasthenia under no[immunosuppressive treatmen[tJ]. Muscle Nerve, 2013, 48:464.
[16]Vincent A, Leite MI, Farrugia ME, Jacob S, Viegas S, ShiraishiH, Benveniste O, Morgan BP, Hilton-Jones D, Newsom-Davis J,Beeson D, Willcox N. Myasthenia gravis seronegative foracetylcholine receptor antibodies[J]. Ann NY Acad Sci, 2008,1132:84-92.
[17]Farrugia ME, Robson MD, Clover L, Anslow P, Newsom-DavisJ, Kennett R, Hilton-Jones D, Matthews PM, Vincent A. MRIand clinical studies of facial and bulbar muscle involvement inMuSK antibody-associated myasthenia gravis[J]. Brain, 2006,129(Pt 6):1481-1492.
[18]Kitamura E, Takiyama Y, Nakamura M, Iizuka T, Nishiyama K.Reversible tongue muscle atrophy accelerated by early initiationof immunotherapy in anti-MuSK myasthenia gravis:a case report[J]. J Neurol Sci, 2016, 360:10-12.
[19]Hatanaka Y, Hemmi S, Morgan MB, Scheufele ML, ClaussenGC, Wolfe GI, Oh SJ. Nonresponsiveness to anticholinesteraseagents in patients with MuSK-antibody-positive MG[J].Neurology, 2005, 65:1508-1509.
[20]Shin HY, Park HJ, Lee HE, Choi YC, Kim SM. Clinical andelectrophysiologic responses to acetylcholinesterase inhibitors inMuSK-antibody-positive myasthenia gravis:evidence forcholinergic neuromuscular hyperactivity[J]. J Clin Neurol,2014, 10:119-124.
[21]Nikolic AV, Basta I, Stojanovic VR, Stevic Z, Lavrnic D.Electrophysiological profile of the patients with MuSK positivemyasthenia gravis[J]. Neurol Res, 2014, 36:945-949.
[22]Padua L, Tonali P, Aprile I, Caliandro P, Bartoccioni E, EvoliA. Seronegative myasthenia gravis:comparison ofneurophysiological picture in MuSK+and MuSK-patients[J].Eur J Neurol, 2006, 13:273-276.
[23]Stickler DE, Massey JM, Sanders DB. MuSK-antibody positivemyasthenia gravis:clinical and electrodiagnostic patterns[J].Clin Neurophysiol, 2005, 116:2065-2068.
[24]Oh SJ, Hatanaka Y, Hemmi S, Young AM, Scheufele ML,Nations SP, Lu L, Claussen GC, Wolfe GI. Repetitive nervestimulation of facial muscles in MuSK antibody-positivemyasthenia gravis[J]. Muscle Nerve, 2006, 33:500-504.
[25]Kim SW, Sunwoo MK, Kim SM, Shin HY, Sunwoo IN.Repetitive nerve stimulation in MuSK-antibody-positivemyasthenia gravis[J]. J Clin Neurol, 2017, 13:287-292.
[26]Sanders DB, Wolfe GI, Benatar M, Evoli A, Gilhus NE, Illa I,Kuntz N, Massey JM, Melms A, Murai H, Nicolle M, Palace J,Richman DP, Verschuuren J, Narayanaswami P. Internationalconsensus guidance for management of myasthenia gravis:executive summary[J]. Neurology, 2016, 87:419-425.
[27]Hong YH, Sung JJ. Auto-reactive B cells in MuSK myastheniagravis[J]. Neuroimmunol Neuroinflammation, 2016, 3:196-197.