Holmøy Trygve, Horn Morten Andreas, Vandvik Bodvar
Nevrologisk avdeling, Ullevål universitetssykehus, 0407 Oslo.
Tidsskr Nor Laegeforen. 2007 May 31;127(11):1529-30.
Stiff person syndrome (SPS) is a rare neurological disorder characterized by simultaneous contraction of agonistic and antagonistic muscles. SPS can easily be confused with a psychogenic movement disorder, but the frequent finding of autoantibodies against glutamic acid decarboxylase (GAD65), positive response to immunomodulatory treatment and association with other autoimmune diseases strongly suggests an immununological pathogenesis.
A 43-year-old man was admitted with a three-year history of stiffness and painful spasms in the left leg, causing walking problems and frequent falls. A clinical examination revealed a bizarre gait, pes equinovarus, and simultaneous contraction of agonistic and antagonistic muscles, but no other neurological deficits. Electromyography was normal except for simultaneous contraction of agonistic and antagonistic muscles. Magnetic resonance imaging of the neuraxis and routine examinations of blood and cerebrospinal fluid were normal. A diagnosis of conversion neurosis was considered, but was not supported by positive evidence. The symptoms gradually evolved to affect the back and both legs. Elevated levels of antibodies against GAD65 in serum and cerebrospinal fluid confirmed the diagnosis SPS three and a half years after symptom debut. Both stiffness and muscle cramps responded excellently to diazepam.
This report calls attention to a rare neurological disease, in which absence of specific neurological deficits may lead to an erroneous diagnosis of a psychogenic disorder.
僵人综合征(SPS)是一种罕见的神经系统疾病,其特征为拮抗肌和主动肌同时收缩。SPS很容易与精神性运动障碍相混淆,但谷氨酸脱羧酶65(GAD65)自身抗体的频繁检出、免疫调节治疗的阳性反应以及与其他自身免疫性疾病的关联,强烈提示其发病机制与免疫有关。
一名43岁男性因左腿僵硬和疼痛性痉挛3年入院,导致行走困难和频繁跌倒。临床检查发现步态怪异、马蹄内翻足,拮抗肌和主动肌同时收缩,但无其他神经功能缺损。除拮抗肌和主动肌同时收缩外,肌电图检查正常。神经轴的磁共振成像以及血液和脑脊液的常规检查均正常。曾考虑诊断为转换性神经症,但无阳性证据支持。症状逐渐发展至累及背部和双腿。血清和脑脊液中抗GAD65抗体水平升高,在症状出现三年半后确诊为SPS。地西泮对僵硬和肌肉痉挛均有良好疗效。
本报告提醒注意一种罕见的神经系统疾病,其中缺乏特异性神经功能缺损可能导致对精神性障碍的误诊。