Okano Tomoko, Fujitake Junko, Suzuki Kaori, Mori Nobuhito, Sonobe Masanobu, Ohta Kiyoe, Nakane Shunya, Saida Kyoko
Department of Neurology, Kyoto City Hospital.
Rinsho Shinkeigaku. 2006 Jul;46(7):496-500.
A 53-year-old woman was admitted to our hospital because of dropped head. Neurological examination showed no abnormality except for weakness of the neck extensor muscles. Her symptoms worsened in the evening, requiring her to support her head by placing her hand against her chin. Edrophonium and repetitive stimulation tests gave negative results, and anti-acetylcholine receptor antibodies were not detected. She had no thymoma. However, she was found to have a high serum titer of anti-MuSK antibody (37.3 nM). She was diagnosed as having myasthenia gravis (MG) and treatment with pyridostigmine was started. However, this had to be withdrawn because of fasciculation as an adverse effect. She was therefore treated with prednisolone, and this resulted in marked improvement. The initial presenting symptom in this case was dropped head, and there were none of the results of laboratory or electrophysiological examinations that are usually typical of MG. MG was eventually diagnosed by measurement of anti-MuSK antibody. The present case suggests that a patient presenting with dropped head without any obvious cause needs to be studied for the presence of anti-MuSK antibody.
一名53岁女性因头部下垂入住我院。神经系统检查显示除颈伸肌无力外无异常。她的症状在晚上加重,需要用手托住下巴来支撑头部。依酚氯铵和重复刺激试验结果为阴性,未检测到抗乙酰胆碱受体抗体。她没有胸腺瘤。然而,发现她血清抗肌肉特异性激酶(MuSK)抗体滴度很高(37.3 nM)。她被诊断为重症肌无力(MG),并开始使用吡啶斯的明治疗。然而,由于出现肌束震颤这一不良反应,不得不停用该药物。因此,她接受了泼尼松龙治疗,症状明显改善。该病例最初的表现症状是头部下垂,且实验室检查和电生理检查结果均无MG通常典型的表现。最终通过检测抗MuSK抗体确诊为MG。本病例提示,对于无明显原因出现头部下垂的患者,需要检查是否存在抗MuSK抗体。