Naoe Ena Elizabeth L, Durano Redentor R, De Roxas-Bernardino Ranhel C, Saranza Gerard
Department of Neurosciences, College of Medicine and Philippine General Hospital, University of the Philippines Manila, Philippines.
Section of Adult Neurology, Department of Internal Medicine, Chong Hua Hospital Cebu, Philippines.
SAGE Open Med Case Rep. 2025 Apr 29;13:2050313X251333676. doi: 10.1177/2050313X251333676. eCollection 2025.
Stiff person syndrome is a rare neurological disorder characterized by muscular rigidity, painful spasms, and gait abnormalities. The diagnosis is primarily clinical and often requires a high index of suspicion. While the pathophysiology is not fully understood, stiff person syndrome is frequently associated with anti-glutamic acid decarboxylase 65 antibodies, and in some cases, paraneoplastic syndromes. We present two cases of anti-glutamic acid decarboxylase 65positive stiff person syndrome in the Philippines: a 53-year-old diabetic woman presenting with a classical stiff person syndrome case that responded well to symptomatic treatment, and a 62-year-old woman with a history of thyroiditis presenting with paraneoplastic stiff person syndrome that showed significant improvement on follow up after plasmapheresis and tumor excision. These cases are particularly valuable due to their rare local presentation, contributing to the limited data on stiff person syndrome in our region. This article also includes a review of the existing literature on stiff person syndrome, highlighting key diagnostic and therapeutic approaches. The findings emphasize the importance of early diagnosis and intervention, as well as expanding clinical awareness of this condition in regions where it is not widely recognized.
僵人综合征是一种罕见的神经系统疾病,其特征为肌肉僵硬、疼痛性痉挛和步态异常。诊断主要依靠临床症状,通常需要高度的怀疑指数。虽然其病理生理学尚未完全明确,但僵人综合征常与抗谷氨酸脱羧酶65抗体相关,在某些情况下还与副肿瘤综合征有关。我们报告了菲律宾两例抗谷氨酸脱羧酶65阳性的僵人综合征病例:一例是一名53岁的糖尿病女性,表现为典型的僵人综合征病例,对症治疗效果良好;另一例是一名62岁有甲状腺炎病史的女性,表现为副肿瘤性僵人综合征,在进行血浆置换和肿瘤切除后随访显示有显著改善。这些病例因其在当地罕见的表现而尤为珍贵,为我们地区关于僵人综合征的有限数据增添了内容。本文还对现有的关于僵人综合征的文献进行了综述,强调了关键的诊断和治疗方法。研究结果强调了早期诊断和干预的重要性,以及在该疾病未被广泛认识的地区提高临床对这种疾病的认识。