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Lambert-Eaton肌无力综合征和抗 TIF1-γ 自身抗体相关性皮肌炎:一种无恶性肿瘤的独特自身免疫性神经肌肉疾病的关联。

Lambert-Eaton Myasthenic Syndrome and Dermatomyositis With Anti-TIF1-gamma Autoantibody: A Unique Association of Autoimmune Neuromuscular Conditions Without Malignancy.

机构信息

Department of Neurology, University of Pittsburgh Medical Center, Pittsburgh, PA.

Department of Neurology and Rehabilitation, University of Illinois at Chicago, Chicago, IL.

出版信息

J Clin Neuromuscul Dis. 2021 Mar 1;22(3):164-168. doi: 10.1097/CND.0000000000000318.

DOI:10.1097/CND.0000000000000318
PMID:33596001
Abstract

Lambert-Eaton myasthenic syndrome (LEMS) is a presynaptic neuromuscular junction disorder, and dermatomyositis (DM) is an idiopathic inflammatory myopathy. LEMS and DM are uncommon conditions that can present similarly and are often associated with autoantibodies. Concomitant LEMS and DM have only been reported a few times, and most of those cases were paraneoplastic. We present the first reported case of a patient with antivoltage gated calcium channel antibody positive LEMS who subsequently developed DM with antitranscription intermediary factor 1-gamma (anti-TIF1-γ) antibodies. Interestingly, both conditions occurred without evidence of malignancy. This diagnosis of LEMS and DM with characteristic clinical, electrodiagnostic, and histopathological evidence led to a beneficial modification of the patient's therapeutic regimen. Due to the fact that overlapping concurrent neuromuscular conditions are rare, a high clinical suspicion is needed to identify, evaluate (including appropriate cancer screenings), and appropriately treat these patients.

摘要

Lambert-Eaton 肌无力综合征 (LEMS) 是一种突触前神经肌肉接头疾病,皮肌炎 (DM) 是一种特发性炎症性肌病。LEMS 和 DM 是不常见的疾病,它们的表现可能相似,并且常与自身抗体有关。同时发生的 LEMS 和 DM 仅报告过几次,而且大多数病例是副肿瘤性的。我们报告了首例抗电压门控钙通道抗体阳性 LEMS 患者随后发生 DM 伴抗转录中介因子 1-γ (抗-TIF1-γ) 抗体的病例。有趣的是,这两种情况均无恶性肿瘤证据。LEMS 和 DM 的诊断具有特征性的临床、电诊断和组织病理学证据,从而使患者的治疗方案得到了有益的调整。由于重叠的同时发生的神经肌肉疾病很少见,因此需要高度的临床怀疑来识别、评估(包括适当的癌症筛查)并适当治疗这些患者。

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1
Lambert-Eaton Myasthenic Syndrome and Dermatomyositis With Anti-TIF1-gamma Autoantibody: A Unique Association of Autoimmune Neuromuscular Conditions Without Malignancy. Lambert-Eaton肌无力综合征和抗 TIF1-γ 自身抗体相关性皮肌炎:一种无恶性肿瘤的独特自身免疫性神经肌肉疾病的关联。
J Clin Neuromuscul Dis. 2021 Mar 1;22(3):164-168. doi: 10.1097/CND.0000000000000318.
2
A close look at autoimmune muscle disorders: association of Lambert-Eaton myasthenic syndrome with dermatomyositis.深入探究自身免疫性肌肉疾病:兰伯特-伊顿肌无力综合征与皮肌炎的关联
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Lambert-Eaton myasthenic syndrome (LEMS): a rare autoimmune presynaptic disorder often associated with cancer. Lambert-Eaton 肌无力综合征(LEMS):一种罕见的自身免疫性突触前疾病,常与癌症相关。
J Neurol. 2017 Sep;264(9):1854-1863. doi: 10.1007/s00415-017-8541-9. Epub 2017 Jun 12.
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GRP78 antibodies damage the blood-brain barrier and relate to cerebellar degeneration in Lambert-Eaton myasthenic syndrome.GRP78 抗体破坏血脑屏障,并与 Lambert-Eaton 肌无力综合征小脑退行性变有关。
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Cancer detection after a 9-year course of Lambert-Eaton myasthenic syndrome complicated by anti-Hu associated limbic encephalitis.9 年 Lambert-Eaton 肌无力综合征病程后伴抗 Hu 相关边缘性脑炎的癌症检出。
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Lambert-Eaton myasthenic syndrome - diagnosis, pathogenesis and therapy.兰伯特-伊顿肌无力综合征——诊断、发病机制与治疗
Clin Neurophysiol. 2014 Dec;125(12):2328-36. doi: 10.1016/j.clinph.2014.06.031. Epub 2014 Jul 4.
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[Lambert-Eaton myasthenic syndrome, an immune pathology of neuromuscular junctions].[兰伯特-伊顿肌无力综合征,一种神经肌肉接头的免疫病理疾病]
Bull Acad Natl Med. 2014 Feb;198(2):243-54; discussion 255.
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[Autoantibody against the presynaptic P/Q-type voltage-gated calcium channel in Lambert-Eaton myasthenic syndrome].[兰伯特-伊顿肌无力综合征中针对突触前P/Q型电压门控钙通道的自身抗体]
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[P/Q-type Calcium Channel Antibodies in Lambert-Eaton Myasthenic Syndrome].[兰伯特-伊顿肌无力综合征中的P/Q型钙通道抗体]
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SOX1 antibodies are markers of paraneoplastic Lambert-Eaton myasthenic syndrome.SOX1抗体是副肿瘤性兰伯特-伊顿肌无力综合征的标志物。
Neurology. 2008 Mar 18;70(12):924-8. doi: 10.1212/01.wnl.0000281663.81079.24. Epub 2007 Nov 21.