Madkhali Mohammed A, Hao Jenifer-Kris, Khan Mohammad Saud, Himani Sharma, Jaume Alexa, Tiwari Abhinav, Imam Shahnawaz, Jaume Juan Carlos
Department of Medicine, Division of Endocrinology, Diabetes and Metabolism and Center for Diabetes and Endocrine Research (CeDER), College of Medicine and Life Sciences (formerly Medical College of Ohio), University of Toledo, Toledo, OH, USA.
Department of Internal Medicine, Division of Endocrinology, Faculty of Medicine, Jazan University, Jazan, Jizan, Saudi Arabia.
J Endocr Soc. 2022 Jan 14;6(2):bvab188. doi: 10.1210/jendso/bvab188. eCollection 2022 Feb 1.
Glutamic acid decarboxylase 65kD autoantibody (GAD65Ab) is frequently detected in patients with refractory epilepsy and stiff person syndrome. In contrast to T1D, the pathological role of GAD65Ab in neurological disorders is still debatable. As a result, the implementation of possible immunotherapy is usually delayed. This report presents 2 cases of GAD65Ab-associated brain autoimmunity and their different management. We present clinical data and discuss management based on available evidence in the reviewed literature. Both cases presented with acute on chronic neurological symptoms and were GAD65Ab positive. Case 1, a 30-year-old man with a history of early-onset type 1 diabetes mellitus at 14 months, followed by cryptogenic temporal epilepsy at 11 years of age, presented with intractable seizures. Case 2, a 48-year-old woman, presented with a history of recurrent severe headaches, cognitive impairment, decreased memory, and behavioral symptoms. GAD65Ab was detected in both patients' sera. Cerebrospinal fluid GAD65Ab was only checked and positive in case 1. Case 2 was diagnosed with limbic encephalitis, treated with immunotherapy, and showed a remarkable clinical improvement. Case 1 with refractory epilepsy failed multiple antiepileptic drugs and responsive-stimulator system treatments. He was finally diagnosed with autoimmune epilepsy. The delay in diagnosis resulted in a lost opportunity for early immunotherapy. In conclusion, autoantibody screening and early initiation of immunotherapy should be considered to manage GAD65Ab-associated neurological disorders.
谷氨酸脱羧酶65kD自身抗体（GAD65Ab）在难治性癫痫和僵人综合征患者中经常被检测到。与1型糖尿病不同，GAD65Ab在神经系统疾病中的病理作用仍存在争议。因此，可能的免疫治疗的实施通常会延迟。本报告介绍了2例与GAD65Ab相关的脑自身免疫病例及其不同的治疗方法。我们展示了临床数据，并根据综述文献中的现有证据讨论了治疗方法。两例患者均表现为慢性神经系统症状急性发作且GAD65Ab呈阳性。病例1为一名30岁男性，14个月时患有早发型1型糖尿病，11岁时出现隐源性颞叶癫痫，表现为难治性癫痫发作。病例2为一名48岁女性，有反复严重头痛、认知障碍、记忆力减退和行为症状的病史。两名患者的血清中均检测到GAD65Ab。仅对病例1的脑脊液GAD65Ab进行了检查且呈阳性。病例2被诊断为边缘叶脑炎，接受免疫治疗后临床症状显著改善。病例1的难治性癫痫对多种抗癫痫药物和反应性刺激器系统治疗均无效。他最终被诊断为自身免疫性癫痫。诊断延迟导致了早期免疫治疗的机会丧失。总之，对于与GAD65Ab相关的神经系统疾病，应考虑进行自身抗体筛查并尽早开始免疫治疗。
