Antiglycine-receptor encephalomyelitis with rigidity
Antiglycine-receptor encephalomyelitis with rigidity
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DOI：
10.1136/jnnp.2010.229104
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发表时间：
2011-12-01
影响因子：
11
通讯作者：
Graus, Francesc
中科院分区：
文献类型：
--
作者：
Mas, Natalia;Saiz, Albert;Graus, Francesc
背景甘氨酸受体抗体（GlyR-ab）报告在进行性脑脊髓炎伴强直和肌阵挛（PERM）的患者。GlyR-ab检测与HEK 293细胞转染的α 1亚基的GyR.Results一个33岁的女子复视，吞咽困难和步态共济失调，改善5周为基础的测定。然后，她出现了典型的僵硬人综合征（SPS），用皮质类固醇解决，但17个月后复发，出现肢体僵硬综合征。经静脉注射免疫球蛋白（IVIG）治疗后，她已无症状8年。一名60岁男性在几天内出现吞咽困难、复视、左侧面瘫和右侧三叉神经感觉减退，随后出现肌肉强直、皮质脊髓体征、肌阵挛性抽搐和严重的自主神经功能障碍。他出现了癫痫发作，心脏骤停，使他处于持续的植物人状态。患者男，48岁，因下肢强直、张口受限、肌肉痉挛伴角弓反张、出汗就诊。左肩胛骨、右臂和T11-T12皮区瘙痒先于症状。与此同时，他变得越来越具有攻击性，情绪易怒。他还出现味觉障碍（金属味）和严重的并发行为变化和昼夜嗜睡。结论GlyR-ab的临床表现比传统的PERM更广泛。GlyR-ab应检查患者的肌肉僵硬和痉挛的非典型SPS的核心症状。
Background Glycine receptor antibodies (GlyR-ab) were reported in a patient with progressive encephalomyelitis with rigidity and myoclonus (PERM).Methods Three additional patients were clinically described. GlyR-ab was detected with a cell-based assay of HEK293 cells transfected with the alpha 1 subunit of the GyR.Results A 33-year-old woman presented with diplopia, dysphagia and gait ataxia that improved in 5 weeks. Then, she developed a typical stiff-person syndrome (SPS) that resolved with corticosteroids, but relapsed 17 months later with a stiff limb syndrome. After treatment with intravenous immunoglobulins (IVIG), she has been asymptomatic for 8 years. A 60-year-old man developed, dysphagia, diplopia, left facial palsy and right trigeminal hypoaesthesia in a few days, followed by muscular rigidity, corticospinal signs, myoclonic jerks and severe dysautonomia. He developed seizures and suffered a cardiac arrest that left him in a persistent vegetative state. A 48-year-old man presented with leg rigidity and frequent spells of trismus, muscle spasms followed by opisthotonus and diaphoresis. The symptoms were antedated by pruritus of the left scapulae, right arm and T11-T12 dermatome. At the same time he became progressively more aggressive with emotional irritability. He also developed dysgeusia (metallic taste) and severe concurrent behavioural changes and diurnal hypersomnia. Only the rigidity and the spasms improved after therapy.Conclusions The clinical picture associated with GlyR-ab is wider than the classical view of PERM. GlyR-ab should be examined in patients with core symptoms of muscle rigidity and spasms atypical for SPS.