Progressive Encephalomyelitis with Rigidity and Myoclonus and Myasthenia Gravis Comorbid Status with Thymoma
Progressive Encephalomyelitis with Rigidity and Myoclonus and Myasthenia Gravis Comorbid Status with Thymoma
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进行性脑脊髓炎伴强直、肌阵挛和重症肌无力与胸腺瘤共病
DOI：
10.1002/mdc3.13293
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发表时间：
2021
影响因子：
4
通讯作者：
Okuma Yasuyuki
中科院分区：
文献类型：
--
作者：
Ogawa Takashi;Ogaki Kotaro;Daida Kensuke;Nishimaki Takayasu;Ando Maya;Kawajiri Sumihiro;Wada Ryo;Noda Kazuyuki;Hattori Nobutaka;Okuma Yasuyuki
我们的病人出现了全身肌阵挛和痉挛、心动过速、上睑下垂、复视、言语不清、言语困难和呼吸衰竭。这些症状是由PERM和MG与胸腺瘤相关的三种抗体（抗glyr、-AChR和titin抗体）联合引起的。自身免疫性脑炎和全身性自身免疫性疾病可以共存，并且由于胸腺瘤引起的免疫耐受破坏而涉及多种抗体。4一般来说，上睑下垂、复视、言语不清、吞咽困难伴咬肌无力和呼吸衰竭被认为是抗achr症状。虽然，它们也被观察到在抗glyr抗体引起的脑干损伤中。此外，体位变化引起的肌肉激活可引起独特的全身肌阵挛、痉挛和“弹性腿”（视频1）。PERM和MG的共存表现为中枢和外周症状（图1B）。Morise等人报道的病例是唯一一例胸腺瘤伴抗glyr和achr抗体的PERM和MG病例5（图1C）。在我们的病例中也检测到肌内结构抗体Titin。虽然不太可能与病理状况密切相关，但已成为早期使用免疫抑制药物的指标。患者的视网膜色素变性被认为是一个偶然的并发症。抗恢复蛋白抗体6阴性，对免疫治疗或胸腺切除术无反应。总之，我们经历了一例PERM和MG伴有独特的系统性肌阵挛和胸腺瘤相关的痉挛。对免疫治疗的良好反应有助于临床症状的改善和随后的药理学缓解。当胸腺瘤出现不明原因的征象时，应考虑多种抗体的参与。
DiscussionOur patient experienced systemic myoclonus and spasms, tachycardia, ptosis, diplopia, slurred speech, dysphasia, and respiratory failure. These symptoms were caused by the combination of PERM and MG with three antibodies (anti-GlyR,-AChR, and-Titin antibodies) associated with thymoma. Autoimmune encephalitis and systemic autoimmune diseases can coexist3 and involve multiple antibodies due to the disruption of immune tolerance caused by thymoma. 4 Generally, ptosis, diplopia, slurred speech, dysphasia with masseter muscle weakness, and respiratory failure are recognized as anti-AChR symptoms4; although, they have also been observed in brainstem injuries caused by anti-GlyR antibody. 1 Furthermore, muscle activation due to position change may cause unique systemic myoclonus, spasms, and “bouncy legs” in PERM (Video 1). The coexistence of PERM and MG was observed as central and peripheral symptoms (Fig. 1B). The case reported by Morise et al. is the only case of PERM and MG with anti-GlyR and-AChR antibodies associated with thymoma5 (Fig. 1C). Antibodies to the intramuscular structure, Titin, were also detected in our case. Although it is not likely to be closely related to the pathological condition, it has become an index for early use of immunosuppressive drugs. 4The patient’s retinitis pigmentosa was thought to be an incidental complication. Anti-Recoverin antibody6 was negative, and there was a lack of response to immunotherapy or thymectomy. In conclusion, we experienced a case of PERM and MG with unique systemic myoclonus and spasms associated with thymoma. Good response to immunotherapy contributed to improvement in clinical symptoms and subsequent pharmacological remission. When unexplained signs are observed in the presence of thymoma, involvement of multiple antibodies should be assumed.
DOI：
10.2169/internalmedicine.56.7979
发表时间：
2017
期刊：
Internal medicine (Tokyo, Japan)
影响因子：
--
作者：
Morise S;Nakamura M;Morita JI;Miyake K;Kunieda T;Kaneko S;Kusaka H
通讯作者：
Kusaka H
DOI：
10.1093/brain/awu142
发表时间：
2014-08
期刊：
Brain : a journal of neurology
影响因子：
--
作者：
Carvajal-González A;Leite MI;Waters P;Woodhall M;Coutinho E;Balint B;Lang B;Pettingill P;Carr A;Sheerin UM;Press R;Press R;Lunn MP;Lim M;Maddison P;Meinck HM;Vandenberghe W;Vincent A
通讯作者：
Vincent A