抗谷氨酸脱羧酶65抗体相关性僵人综合征并自身免疫性多内分泌腺病综合征Ⅱ型1例并文献复习

Anti-glutamate decarboxylase 65 antibody stiff-person syndrome and autoimmune polyendocrinopathy syndrome typeⅡ:a case report and literature review

目的报告1例抗谷氨酸脱羧酶65抗体相关性僵人综合征(SPS)并发自身免疫性多内分泌腺病综合征Ⅱ型(APS-Ⅱ)的病例,旨在提高临床医师对该病的认识。方法回顾性分析2022年安徽省某神经病学研究所附院收治的1例51岁女性,临床以反复腰痛、腰腹及双下肢僵硬伴无力为特点的病例资料,并复习相关文献。结果患者临床以反复腰痛、腰腹及双下肢僵硬伴无力为特点,早期误诊为分离转换障碍,后检查发现血清及脑脊液抗谷氨酸脱羧酶65抗体阳性,甲状腺球蛋白抗体及过氧化酶抗体滴度升高,空腹及餐后2 h血糖、糖化血红蛋白升高,神经电生理提示静息状态下以体轴肌为主的连续性运动单位电位发放,诊断为抗谷氨酸脱羧酶65抗体相关性SPS、APS-Ⅱ(桥本甲状腺炎、1型糖尿病),予免疫治疗和对症治疗后病情改善。结论抗谷氨酸脱羧酶65抗体相关性SPS并发APS-Ⅱ临床虽具有一定特异性,但由于临床罕见,易误诊、漏诊,尤其是病程早期。

Objective To share a case of anti-glutamate decarboxylase 65 antibody stiff-person syndrome and autoimmune polyendocrinopathy syndrome typeⅡ,to improve clinicians'understanding of this disease.Methods The clinical data of a 51-year-old woman who was admitted to the affiliated hospital of a Neurology Institute in Anhui Province in 2022 was retrospectively analyzed,and the relevant literature was reviewed.Results Patients'clinical to repeatedly lumbago,lumbar abdomen and the stiffness of lower limbs with unable to characteristics of early misdiagnosed as separate conversion disorder,after the inspection found that serum and cerebrospinal fluid resistance to glutamic acid decarboxylase antibody positive 65,thyroglobulin antibody and higher peroxidase antibody degrees,fasting and postprandial 2 hours blood sugar,glycosylated hemoglobin,Neuroelectrophysiology showed that the continuous motor unit potential was mainly distributed by body axis muscles in the resting state.The patient was diagnosed as anti-glutamic acid decarboxylase 65 antibody SPS and APS-Ⅱ(Hashimoto's thyroiditis,type 1 diabetes mellitus),and the condition improved after immunotherapy and symptomatic treatment.Conclusion Although anti-glutamate decarboxylase 65 antibody SPS complicated with APS-Ⅱhas certain clinical specificity,it is easy to be misdiagnosed and missed because of its rarity,especially in the early course of disease.