Vulliemoz S, Vanini G, Truffert A, Chizzolini C, Seeck M
University Hospital, rue Micheli-du Crest 24, Geneva, 1211, Switzerland.
BMJ Case Rep. 2009;2009. doi: 10.1136/bcr.09.2008.0977. Epub 2009 Feb 2.
Anti-glutamic acid decarboxylase (GAD) antibodies are described in stiff-person syndrome and also in other neurological syndromes, including cerebellar ataxia and epilepsy. This paper reports the case of a patient who had chronic focal epilepsy, upbeat nystagmus and cerebellar ataxia, associated with a polyautoimmune response including anti-GAD antibodies. Both gait and nystagmus improved markedly after immunosuppressive treatment with corticosteroids and azathioprine. After the introduction of benzodiazepines, previously refractory seizures were completely controlled. Anti-GAD antibodies should be actively sought out in pharmacoresistant epilepsy, particularly if other neurological abnormalities are present. Combined treatment with immunosuppressants and γhydroxybutyric acidergic agents may be highly effective.
抗谷氨酸脱羧酶（GAD）抗体在僵人综合征以及其他神经系统综合征中均有描述，包括小脑共济失调和癫痫。本文报告了一例患有慢性局灶性癫痫、上跳性眼球震颤和小脑共济失调的患者，其伴有包括抗GAD抗体在内的多自身免疫反应。使用皮质类固醇和硫唑嘌呤进行免疫抑制治疗后，步态和眼球震颤均有明显改善。在使用苯二氮䓬类药物后，先前难治的癫痫发作得到了完全控制。在药物难治性癫痫中，尤其是存在其他神经异常的情况下，应积极寻找抗GAD抗体。免疫抑制剂和γ-羟基丁酸能药物联合治疗可能非常有效。
