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以发作期手部亲吻为表现的GAD65阳性自身免疫性相关癫痫;一种罕见疾病的不常见表现。

GAD65-positive autoimmune-associated epilepsy presenting with Ictal Hand Kissing; an uncommon presentation of a rare disease.

作者信息

Fallatah Alia M R, Abdulmutali Hanan M, Alhameed Majed H

机构信息

National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia.

出版信息

Epilepsy Behav Rep. 2025 Jul 1;31:100801. doi: 10.1016/j.ebr.2025.100801. eCollection 2025 Sep.

Abstract

Glutamic acid decarboxylase-65 (GAD65) is an enzyme responsible for the production of gamma-aminobutyric acid (GABA). Elevated levels of GAD65 antibodies have been recognized as a key biomarker of neurological autoimmune disorders, particularly autoimmune-associated epilepsy (AAE). We report the case of a 48-year-old woman with drug-resistant right temporal AAE, who initially developed seizures following a febrile illness accompanied by confusion. Notably, the patient exhibited rare ictal semiology involving stereotypical Ictal Hand kissing (IHK) behavior. Brain MRI revealed bilateral mesial temporal sclerosis (MTS), which was more pronounced on the right side. High serum titers of GAD65 antibodies further supported this diagnosis. This case underscores the incompletely elucidated clinical features of GAD65-positive AAE, and highlights the unique semiology of IHK behavior and its role in understanding and characterizing possible underlying epileptogenic networks.

摘要

谷氨酸脱羧酶65(GAD65)是一种负责生成γ-氨基丁酸(GABA)的酶。GAD65抗体水平升高已被公认为神经自身免疫性疾病的关键生物标志物,尤其是自身免疫相关性癫痫(AAE)。我们报告了一例48岁患有耐药性右侧颞叶AAE的女性病例,她最初在一次伴有意识模糊的发热性疾病后出现癫痫发作。值得注意的是,该患者表现出罕见的发作期症状学,包括刻板的发作期手部亲吻(IHK)行为。脑部MRI显示双侧内侧颞叶硬化(MTS),右侧更为明显。高血清滴度的GAD65抗体进一步支持了这一诊断。该病例强调了GAD65阳性AAE尚未完全阐明的临床特征,并突出了IHK行为独特的症状学及其在理解和表征可能的潜在致痫网络中的作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a35a/12270791/08f3d155531c/gr1.jpg

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