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一位 30 岁男性,亚急性步态不稳、无力和肌肉痉挛。

The case of a 30-year-old man with subacute gait instability, weakness, and muscle spasms.

机构信息

Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.

出版信息

Ann Clin Transl Neurol. 2020 Dec;7(12):2535-2537. doi: 10.1002/acn3.51181. Epub 2020 Nov 11.

DOI:10.1002/acn3.51181
PMID:33174672
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7732238/
Abstract

A 30-year-old healthy man presents after a fall with diffuse weakness and pain and recent onset left eye ptosis in the setting of three weeks of progressive bilateral leg weakness, gait instability, and difficulty washing his hair due to upper extremity weakness. He had also developed stiffness in his neck and shoulders and uncontrollable muscle spasms. Exam was notable for ptosis, fatiguing weakness in extremities, increased tone, hyperreflexia with clonus, and spastic gait. A mediastinal mass was found on chest CT (Fig. 1), and biopsy confirmed an invasive thymoma with positive nodes. Serum testing was positive for antibodies to acetylcholine receptors as well as glutamic acid decarboxylase.

摘要

一位 30 岁健康男性,因摔倒后出现全身无力和疼痛,以及左眼近期出现上睑下垂,伴三周进行性双侧下肢无力、步态不稳和因上肢无力而难以洗头前来就诊。他还出现了颈部和肩部僵硬以及无法控制的肌肉痉挛。检查发现上睑下垂、四肢易疲劳无力、肌张力增高、腱反射亢进伴阵挛,以及痉挛步态。胸部 CT 发现纵隔肿块(图 1),活检证实为侵袭性胸腺瘤伴淋巴结阳性。血清检测显示乙酰胆碱受体抗体和谷氨酸脱羧酶抗体阳性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/29ed/7732238/397a831f8227/ACN3-7-2535-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/29ed/7732238/397a831f8227/ACN3-7-2535-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/29ed/7732238/397a831f8227/ACN3-7-2535-g001.jpg

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本文引用的文献

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Stiff-person syndrome: insights into a complex autoimmune disorder.僵人综合征:对一种复杂自身免疫性疾病的深入了解。
J Neurol Neurosurg Psychiatry. 2015 Aug;86(8):840-8. doi: 10.1136/jnnp-2014-309201. Epub 2014 Dec 15.
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Stiff-man syndrome and variants: clinical course, treatments, and outcomes.僵人综合征及其变异型:临床病程、治疗方法及预后
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Qualitative and quantitative evidence of anti-glutamic acid decarboxylase-specific intrathecal antibody synthesis in patients with stiff person syndrome.
在僵人综合征患者中存在抗谷氨酸脱羧酶特异性鞘内抗体合成的定性和定量证据。
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Progressive fluctuating muscular rigidity and spasm ("stiff-man" syndrome); report of a case and some observations in 13 other cases.进行性波动性肌肉僵硬和痉挛(“僵人”综合征);1例报告及对其他13例的一些观察
Proc Staff Meet Mayo Clin. 1956 Jul 25;31(15):421-7.
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Stiff-person syndrome associated with invasive thymoma: a case report.僵人综合征合并侵袭性胸腺瘤:一例报告
J Neurol Sci. 2001 Dec 15;193(1):59-62. doi: 10.1016/s0022-510x(01)00602-5.
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Stiff-persons' syndrome associated with thymoma and subsequent myasthenia gravis.伴胸腺瘤及随后发生重症肌无力的僵人综合征
Muscle Nerve. 1997 Apr;20(4):493-8. doi: 10.1002/(sici)1097-4598(199704)20:4<493::aid-mus13>3.0.co;2-#.