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谷氨酸脱羧酶(GAD - 65)自身免疫与严重日间嗜睡、夜间失眠、轻度自主神经病变及轴索性感觉运动性多发性神经病变相关:一种新表型的病例报告

Glutamic Acid Decarboxylase (GAD-65) Autoimmunity Associated With Profound Daytime Hypersomnia, Nighttime Insomnia, Mild Autonomic Neuropathy and Axonal Sensori-Motor Polyneuropathy: A Case Report on a New Phenotype.

作者信息

Kesserwani Hassan

机构信息

Neurology, Flowers Medical Group, Dothan, USA.

出版信息

Cureus. 2020 Oct 23;12(10):e11112. doi: 10.7759/cureus.11112.

DOI:10.7759/cureus.11112
PMID:33240708
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7682535/
Abstract

We describe the case of a 74-year-old fit and healthy man who developed a profound sleep disorder characterized by mid-day hypersomnia and debilitating insomnia. A wide range of therapies, including a large number of stimulants and hypnotics with multiple different mechanisms of action, failed to improve his condition. Trials with oral prosthetic devices and a wide range of face masks with positive pressure assistance and multiple continuous positive airway pressure (CPAP) titration studies failed to help. Along with his sleep disorder, our patient developed a slowly evolving axonal sensorimotor polyneuropathy with a subtle autonomic neuropathy. Due to the latter two conditions, a comprehensive paraneoplastic panel was obtained and revealed extremely high titer glutamic acid decarboxylase (GAD-65) autoantibodies. This was confirmed by three independent laboratories and by cerebrospinal fluid staining of rat hippocampus, revealing the classic tram-track lines along the dentate gyrus. Our patient was treated empirically with intravenous immunoglobulin. We believe that our case reveals a unique syndrome related to GAD-65 autoantibodies and adds to the growing list of GAD-65 associated diseases. This case is particularly provocative as it raises the idea to check for GAD-65 autoimmunity in patients who suffer from a profound sleep disorder resistant to conventional treatment.

摘要

我们描述了一名74岁身体健康的男性病例,他出现了一种严重的睡眠障碍,其特征为日间嗜睡和使人衰弱的失眠。包括大量具有多种不同作用机制的兴奋剂和催眠药在内的多种治疗方法均未能改善他的病情。使用口腔修复装置以及多种带正压辅助的面罩进行试验,以及多次持续气道正压通气(CPAP)滴定研究均未起到帮助作用。除了睡眠障碍外,我们的患者还患上了一种缓慢进展的轴索性感觉运动性多发性神经病,并伴有轻微的自主神经病变。由于后两种病症,进行了全面的副肿瘤检查,结果显示谷氨酸脱羧酶(GAD - 65)自身抗体滴度极高。这一结果得到了三个独立实验室以及大鼠海马体脑脊液染色的证实,显示出沿齿状回的典型电车轨道样线条。我们的患者接受了静脉注射免疫球蛋白的经验性治疗。我们认为我们的病例揭示了一种与GAD - 65自身抗体相关的独特综合征,并增加了与GAD - 65相关疾病的种类。该病例特别具有启发性,因为它提出了在患有对常规治疗有抗性的严重睡眠障碍患者中检查GAD - 65自身免疫性的想法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/34f4/7682535/0ee1168d9ec0/cureus-0012-00000011112-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/34f4/7682535/0ee1168d9ec0/cureus-0012-00000011112-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/34f4/7682535/0ee1168d9ec0/cureus-0012-00000011112-i01.jpg

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本文引用的文献

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GAD antibodies in neurological disorders - insights and challenges.神经疾病中的 GAD 抗体:研究进展与挑战。
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Post-ganglionic autonomic neuropathy associated with anti-glutamic acid decarboxylase antibodies.与抗谷氨酸脱羧酶抗体相关的节后自主神经病变
Clin Auton Res. 2017 Feb;27(1):51-55. doi: 10.1007/s10286-016-0390-6. Epub 2016 Dec 2.
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A Case of Recurrent Insomnia: Extending the Spectrum of Autoimmune Encephalitis.一例复发性失眠病例:拓展自身免疫性脑炎的范围
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