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一例最初表现为急性周围性前庭病的抗谷氨酸脱羧酶65抗体阳性僵人综合征,经多次住院后导致诊断延迟。

A Case of Anti-glutamic Acid Decarboxylase-65 Antibody Positive Stiff Person Syndrome Presenting Initially as Acute Peripheral Vestibulopathy, Leading to Delayed Diagnosis After Multiple Hospitalizations.

作者信息

Nene Yash, Mehta Tejas, Pawar Sanjay, Patil Gajanan, Ichaporia Nasli R

机构信息

Neurology, Apollo Jehangir Hospital, Pune, IND.

Neurology, University of Missouri, Columbia, USA.

出版信息

Cureus. 2019 Nov 6;11(11):e6083. doi: 10.7759/cureus.6083.

Abstract

Stiff person syndrome (SPS), with a prevalence of one to two per million, is an extremely rare neurological condition that is characterized by axial muscle stiffness and rigidity along with intermittent painful muscle spasms. It is often associated with psychiatric co-morbidities such as anxiety and depression. The pathophysiology, although poorly understood, is widely believed to be autoimmune in nature due to the association of anti-glutamic acid decarboxylase-65 (anti-GAD 65) antibodies with this condition. There is also a paraneoplastic variant that is more commonly associated with anti-ampiphysin antibodies. It occurs most commonly in patients with breast cancer followed by colon cancer. Most of the practising neurologists encounter just one or two cases of SPS in their entire careers, hence this condition remains underdiagnosed, leading to significant disability and distress to the patient. In this case report we describe a postmenopausal female who presented initially with symptoms of vertigo and dizziness and was hospitalized multiple times before the diagnosis was reached. Through this article, we attempt to increase awareness about this condition among practising physicians so as to increase the likelihood of earlier diagnosis and treatment.

摘要

僵人综合征(SPS)的患病率为百万分之一至二,是一种极为罕见的神经系统疾病,其特征为躯干肌肉僵硬强直,并伴有间歇性疼痛性肌肉痉挛。它常与焦虑和抑郁等精神共病相关。尽管其病理生理学机制尚不清楚,但由于抗谷氨酸脱羧酶65(抗GAD 65)抗体与该疾病相关,人们普遍认为其本质是自身免疫性的。还有一种副肿瘤性变体,更常见于与抗 amphiphysin 抗体相关的情况。它最常发生于乳腺癌患者,其次是结肠癌患者。大多数执业神经科医生在其整个职业生涯中仅遇到一两个SPS病例,因此这种疾病仍然诊断不足,给患者带来严重的残疾和痛苦。在本病例报告中,我们描述了一位绝经后女性,她最初出现眩晕和头晕症状,在确诊前多次住院。通过本文,我们试图提高执业医生对这种疾病的认识,以增加早期诊断和治疗的可能性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6982/6894891/3692814515a2/cureus-0011-00000006083-i01.jpg

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