Commentary: Progressive Encephalomyelitis with Rigidity and Myoclonus and Myasthenia Gravis Comorbid Status with Thymoma
Commentary: Progressive Encephalomyelitis with Rigidity and Myoclonus and Myasthenia Gravis Comorbid Status with Thymoma
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评论：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/mdc3.13303
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发表时间：
2021
影响因子：
4
通讯作者：
Barsottini Orlando
中科院分区：
文献类型：
--
作者：
Balint Bettina;Ogawa Takashi;Ogaki Kotaro;Daida Kensuke;Nishimaki Takayasu;Ando Maya;Kawajiri Sumihiro;Wada Ryo;Noda Kazuyuki;Hattori Nobutaka;Okuma Yasuyuki;Barsottini Orlando
没有意识丧失的腿感觉异常和跌倒的短期病史提示是一种自身免疫性脑干疾病，对于伴有强直和肌阵挛(PERM)的进行性脑脊髓炎相当典型，通常伴有甘氨酸受体(GlyR)抗体。1、2与此一致，病例视频显示了一阵阵疼痛的肌阵挛痉挛，躯干和腿部伸展，手臂弯曲，这些痉挛是自发发生的，当试图站立或行走时。1似乎还有间歇性的腿部僵硬。痉挛之间缺乏张力，会给人一种不同寻常的“弹腿”的感觉。另一个值得注意的方面是据报道的咀嚼肌无力。虽然上睑下垂、复视、构音障碍和吞咽困难是烫发的常见体征，但与烫发相关的更典型的症状是斜视而不是咬肌无力。后者指向一个额外的外围组件。PERM和重症肌无力(MG)的症状，无论有没有MG相关抗体，都已有报道。这并不奇怪，因为MG和PERM都与胸腺瘤有很强的相关性。另一种与胸腺瘤相关的抗体是抗接触素相关蛋白样2(Caspr2)，抗Caspr2 Morvan综合征和MG可在胸腺瘤或胸腺增生患者中共存。3Caspr2自身免疫可导致腿部肌阵挛，其现象与本文所观察到的相似，但不会以轴性伸肌痉挛为特征。
The short history of leg paraesthesia and falls without loss of consciousness is suggestive of an autoimmune brainstem disorder and fairly classical for progressive encephalomyelitis with rigidity and myoclonus (PERM), often with glycine receptor (GlyR) antibodies. 1, 2 In keeping with this, the case video shows bouts of painful myoclonic spasms with trunk and leg extension and arm flexion that occur spontaneously and when attempting to stand or walk. 1 There seems to be also intermittent leg stiffness. The lack of tone between spasms gives an unusual appearance of “bouncy legs.” The other remarkable aspect is the reported masseter weakness. Although ptosis, diplopia, dysarthria, and dysphagia are well-recognized signs in PERM, it is more typically trismus than masseter weakness that is associated with PERM. The latter points to an additional, peripheral component. PERM and myasthenia gravis (MG) symptoms, with or without MG-associated antibodies, have been reported. 2 This is not surprising given that both MG and PERM have a strong association with thymomas. Another antibody associated with thymomas is anti-Contactin-associated protein-like 2 (Caspr2), and anti-Caspr2 Morvan syndrome and MG can cooccur in patients with thymoma or thymic hyperplasia. 3 Caspr2 autoimmunity can cause leg myoclonus with a similar phenomenology as observed here4 but would not feature the axial extensor spasms.
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
影响因子：
4
作者：
Ogawa Takashi;Ogaki Kotaro;Daida Kensuke;Nishimaki Takayasu;Ando Maya;Kawajiri Sumihiro;Wada Ryo;Noda Kazuyuki;Hattori Nobutaka;Okuma Yasuyuki
通讯作者：
Okuma Yasuyuki
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