抗甘氨酸受体抗体阳性的僵人综合征合并肌阵挛性进行性脑脊髓炎，最初表现为单侧面部僵硬：病例报告
Anti-glycine receptor antibody-positive progressive encephalomyelitis with rigidity and myoclonus initially presenting with one-sided stiff face: A case report.
作者信息
Irie Ken-Ichi, Tateishi Takahisa, Moritaka Taiga, Sakurada Naonori, Kikuchi Shinsuke, Taniwaki Takayuki
机构信息
Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Kurume, Japan.
出版信息
Front Neurol. 2022 Oct 26;13:1021437. doi: 10.3389/fneur.2022.1021437. eCollection 2022.
BACKGROUND
Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a subtype of stiff-person syndrome, a rare cerebrospinal disease that causes brainstem symptoms, myoclonus, muscle rigidity, and hyperekplexia.
CASE PRESENTATION
A 71-year-old man experienced left-sided stiff face, and was subsequently admitted to our hospital because of the appearance of left-dominant lower limb myoclonus. Muscle rigidity followed 3 days later. Magnetic resonance imaging revealed no abnormality. An electrophysiological examination showed a toughness of the antagonistic muscle following evocation of the Achilles tendon reflex, and a tonic phenomenon affecting the left facial muscles during the blink reflex. The patient's serum was positive for anti-glycine receptor (anti-GlyR) antibody, suggesting PERM. The patient was administered steroids, immunoglobulin therapy, and immunosuppressive drugs. He gradually improved after these therapies and became able to walk using a walker.
CONCLUSIONS
We conclude that this was a rare case of anti-GlyR antibody-positive PERM with unilateral brainstem symptoms, myoclonus, and muscle rigidity.
背景
僵人综合征伴僵硬度和肌阵挛（PERM）是僵人综合征的一种亚型，是一种罕见的脑脊髓疾病，可导致脑干症状、肌阵挛、肌肉僵硬和惊吓反射亢进。
病例报告
一名71岁男性出现左侧面部僵硬，随后因左侧下肢肌阵挛而入院。3天后出现肌肉僵硬。磁共振成像未显示异常。电生理检查显示，跟腱反射诱发后拮抗肌强直，眨眼反射时左侧面部肌肉出现强直现象。患者血清抗甘氨酸受体（anti-GlyR）抗体呈阳性，提示为PERM。给予患者类固醇、免疫球蛋白治疗和免疫抑制药物。经过这些治疗后，他逐渐好转，能够使用助行器行走。
结论
我们得出结论，这是一例罕见的抗GlyR抗体阳性的PERM，伴有单侧脑干症状、肌阵挛和肌肉僵硬。
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