目的:提高对谷氨酸脱羧酶(glutamic acid decarboxylase,GAD)抗体相关神经系统自身免疫病的临床表现的认识,从而避免临床漏诊和误诊。

方法:报道1例以僵人综合征为主要症状的患者临床资料,结合文献复习疾病的临床表现、发病机制、诊断和治疗。

结果:抗GAD抗体相关神经系统综合征的患者临床症状多样，影像无特异性。GAD抗体对于诊断有重要意义。本例患者通过血浆置换治疗,症状有好转,续贯免疫治疗,症状平稳。

结论:僵人综合征是抗GAD抗体相关神经系统综合征的常见表现,鞘内合成GAD抗体是诊断强有力的证据,免疫调节治疗对疾病治疗有效。

Objective:Enhance understanding of neuroautoimmune disorders associated with glutamic acid decarboxylase(GAD) antibodies to prevent misdiagnoses.

Methods:The clinical data of a patient primarily exhibiting stiff person syndrome was reported, reviewing symptomatology, pathogenesis,diagnostic processes, and treatment modalities based on existing literature.

Results:Symptoms in patients with GAD antibody-associated neurological syndrome vary and imaging results are often non-specific. The presence of GAD antibodies is crucial for accurate diagnosis. In this reported case, the patient showed improvement following plasma exchange therapy and maintained symptom stability with ongoing immunotherapy.

Conclusion:Stiff person syndrome frequently manifests in anti-GADantibody associated neurological syndromes. The intrathecal synthesis of GAD antibodies strongly supports diagnosis. Immunomodulatory therapy has proven effective in treating this condition.