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表现为反复胸痛的“僵人综合征”罕见病例

已有 5 次阅读2026-11-3 00:05 |个人分类:medicine

表现为反复胸痛的“僵人综合征”罕见病例 (P2-2.003)

https://www.neurology.org/doi/10.1212/WNL.0000000000215001

Shivanthi Gunawardane, Harsh Patel, Serena Zheng 2026年6月9日刊

摘要

一名22岁女性因双侧肢体（腿部和手部）无力、痉挛及僵硬就诊于神经内科门诊。其症状始于一年前，表现为持续性胸闷和胸痛，最初被归因于焦虑症。在接受焦虑症治疗期间，患者肌力下降，僵硬程度加重。随后，她又出现了易疲劳性复视、面瘫及其他神经系统症状，导致被误诊为重症肌无力。患者开始接受溴吡斯的明（Mestinon）治疗，但症状未见改善，促使医生进行了进一步评估。随着病情进展，患者的步态障碍和肌肉僵硬感日益加重。

设计/方法

结果

针对抗谷氨酸脱羧酶（GAD）抗体的进一步检测最终确诊为“僵人综合征”（Stiff Person Syndrome, SPS）。这是一种罕见的神经肌肉疾病，由自身免疫病理机制引起，特征为进行性肌肉僵硬和痉挛。患者还提到其两位姨妈（母亲的姐妹）也有类似症状，这提示SPS可能具有遗传因素。确诊后，患者接受了为期三个月的静脉注射免疫球蛋白（IVIG）治疗，步态有所改善，但其他症状依然存在。

结论

本病例凸显了诊断僵人综合征（SPS）所面临的挑战，尤其是当其症状与其他神经肌肉疾病重叠时。早期症状（如由肋间肌僵硬引起的持续性胸痛）可能被误认为是焦虑症或其他疾病，从而导致诊断和治疗的延误。识别这些非典型表现对于改善患者预后至关重要。对于出现进行性神经肌肉症状的患者，进行全面的临床评估（包括详细的家族史询问）必不可少。提高对僵人综合征（SPS）及其多样化临床表现的认识，有助于实现及时诊断，避免不必要的治疗，并改善患者的生活质量。

免责声明：文摘未经《Neurology®》期刊审阅，也不代表《Neurology®》编辑或工作人员的观点。

利益披露：Gunawardane女士的一位直系亲属曾担任AbbVie公司的顾问，并因此获得了10万至49.9999万美元的个人报酬。

Gunawardane女士的一位直系亲属曾担任Biohaven公司的顾问，并因此获得了10万至49.9999万美元的个人报酬。

Gunawardane女士的一位直系亲属曾担任Biohaven Pharmaceuticals公司的讲者团成员，并因此获得了10万至49.9999万美元的个人报酬。

Gunawardane女士的一位直系亲属曾担任AbbVie公司的讲者团成员，并因此获得了10万至49.9999万美元的个人报酬。

Gunawardane女士的一位直系亲属曾担任专家证人，并因此获得了1万至4.9999万美元的个人报酬。

Gunawardane女士的一位直系亲属曾获得美国放射学会（American College of Radiology）的研究资助。

Gunawardane女士的一位直系亲属曾担任AbbVie公司的讲者，并因此获得了10万至49.9999万美元的个人报酬。Patel女士无任何利益冲突需披露。Zheng女士无任何利益冲突需披露。

An Unusual Case of Stiff Person Syndrome Masquerading as Recurrent Chest Pain (P2-2.003)

https://www.neurology.org/doi/10.1212/WNL.0000000000215001

Shivanthi Gunawardane, Harsh Patel, and Serena Zheng AUTHORS INFO & AFFILIATIONS

June 9, 2026 issue

106 (11_Supplement_1) 1135

https://doi.org/10.1212/WNL.0000000000215001

Abstract

Objective

Background

A 22-year-old female presented to the neurology clinic with bilateral leg and hand weakness, spasticity, and rigidity. Her symptoms began a year earlier as persistent chest tightness and pain, which were initially attributed to anxiety. While being treated for anxiety, her strength declined, and rigidity worsened. She later developed fatigable diplopia, facial palsy, and other neurological symptoms, leading to a misdiagnosis of Myasthenia Gravis. She was started on Mestinon therapy; however, her symptoms did not improve, prompting further evaluation. As her condition progressed, she experienced increasing difficulty with gait and muscle stiffness.

Design/Methods

Results

Further testing for anti–glutamic acid decarboxylase (GAD) antibodies ultimately confirmed a diagnosis of Stiff Person Syndrome (SPS), a rare neuromuscular disorder characterized by progressive muscle rigidity and spasms due to autoimmune pathology. The patient also disclosed a family history of similar symptoms in two maternal aunts, highlighting a potential genetic component of SPS. Following diagnosis, the patient completed three months of IVIG treatment, resulting in modest improvement in gait, though other symptoms persisted.

Conclusions

This case highlights the diagnostic challenges associated with SPS, particularly when symptoms overlap with those of other neuromuscular disorders. Early symptoms, such as persistent chest pain due to intercostal muscle stiffness, may be misattributed to anxiety or other conditions, resulting in delayed diagnosis and treatment. Recognizing these atypical presentations is crucial for improving patient outcomes. A thorough clinical evaluation, including a detailed family history, is essential in patients with progressive neuromuscular symptoms. Increased awareness of SPS and its varied presentations can facilitate timely diagnosis, prevent unnecessary treatments, and improve quality of life for affected individuals.

Disclaimer: Abstracts were not reviewed by Neurology® and do not reflect the views of Neurology® editors or staff.

Disclosure: An immediate family member of Ms. Gunawardane has received personal compensation in the range of $100,000-$499,999 for serving as a Consultant for Abvie. An immediate family member of Ms. Gunawardane has received personal compensation in the range of $100,000-$499,999 for serving as a Consultant for Biohaven . An immediate family member of Ms. Gunawardane has received personal compensation in the range of $100,000-$499,999 for serving on a Speakers Bureau for Biohaven Pharmaceuticals . An immediate family member of Ms. Gunawardane has received personal compensation in the range of $100,000-$499,999 for serving on a Speakers Bureau for Abvie . An immediate family member of Ms. Gunawardane has received personal compensation in the range of $10,000-$49,999 for serving as an Expert Witness for For patient . An immediate family member of Ms. Gunawardane has received research support from American College of Radiology . An immediate family member of Ms. Gunawardane has received personal compensation in the range of $100,000-$499,999 for serving as a Speaker with Abvie. Mrs. Patel has nothing to disclose. Miss Zheng has nothing to disclose.