Anti-glutamic acid decarboxylase 65: Related stiff person syndrome - A report of two cases and literature review.

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL
SAGE Open Medical Case Reports Pub Date : 2025-04-29 eCollection Date: 2025-01-01 DOI:10.1177/2050313X251333676
Ena Elizabeth L Naoe, Redentor R Durano, Ranhel C De Roxas-Bernardino, Gerard Saranza
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引用次数: 0

Abstract

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.

抗谷氨酸脱羧酶65:相关僵硬者综合征2例报告并文献复习。
僵硬人综合征是一种罕见的神经系统疾病,其特征是肌肉僵硬、疼痛痉挛和步态异常。诊断主要是临床诊断,通常需要高度怀疑。虽然病理生理学尚不完全清楚,但僵硬人综合征通常与抗谷氨酸脱羧酶65抗体有关,在某些情况下,与副肿瘤综合征有关。我们报告了菲律宾的两例抗谷氨酸脱羧酶65阳性僵硬人综合征:一名53岁的糖尿病女性,表现为典型的僵硬人综合征,对症治疗反应良好;另一名62岁的甲状腺炎女性,表现为副肿瘤僵硬人综合征,在血浆置换和肿瘤切除后随访有明显改善。这些病例因其罕见的当地表现而特别有价值,有助于本地区僵硬人综合征的有限数据。这篇文章还包括对僵硬人综合征现有文献的回顾,突出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,以及在未被广泛认识的地区扩大对这种疾病的临床认识。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
SAGE Open Medical Case Reports
SAGE Open Medical Case Reports MEDICINE, GENERAL & INTERNAL-
CiteScore
0.60
自引率
0.00%
发文量
320
审稿时长
8 weeks
期刊介绍: SAGE Open Medical Case Reports (indexed in PubMed Central) is a peer reviewed, open access journal. It aims to provide a publication home for short case reports and case series, which often do not find a place in traditional primary research journals, but provide key insights into real medical cases that are essential for physicians, and may ultimately help to improve patient outcomes. SAGE Open Medical Case Reports does not limit content due to page budgets or thematic significance. Papers are subject to rigorous peer review and are selected on the basis of whether the research is sound and deserves publication. By virtue of not restricting papers to a narrow discipline, SAGE Open Medical Case Reports facilitates the discovery of the connections between papers, whether within or between disciplines. Case reports can span the full spectrum of medicine across the health sciences in the broadest sense, including: Allergy/Immunology Anaesthesia/Pain Cardiovascular Critical Care/ Emergency Medicine Dentistry Dermatology Diabetes/Endocrinology Epidemiology/Public Health Gastroenterology/Hepatology Geriatrics/Gerontology Haematology Infectious Diseases Mental Health/Psychiatry Nephrology Neurology Nursing Obstetrics/Gynaecology Oncology Ophthalmology Orthopaedics/Rehabilitation/Occupational Therapy Otolaryngology Palliative Medicine Pathology Pharmacoeconomics/health economics Pharmacoepidemiology/Drug safety Psychopharmacology Radiology Respiratory Medicine Rheumatology/ Clinical Immunology Sports Medicine Surgery Toxicology Urology Women''s Health.
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