僵硬人综合征:观察过去的合并症以达到正确的诊断。

IF 0.9 Q4 CLINICAL NEUROLOGY
Case Reports in Neurological Medicine Pub Date : 2021-01-31 eCollection Date: 2021-01-01 DOI:10.1155/2021/6698046
Jared Hicken, Daniel Ramirez, Mark Rigby, Aram Minasian
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引用次数: 2

摘要

僵硬人综合症(SPS)是一种罕见的疾病,大约一百万人中有一人。虽然罕见,但典型病例的症状和结果应该为熟悉这种疾病的人描绘出清晰的临床图景。SPS的主要表现包括进行性轴向肌僵硬和肌肉痉挛。这些症状最常发生在抗谷氨酸脱羧酶(GAD)抗体的情况下,GAD是产生γ -氨基丁酸(GABA)的限速酶,GABA是中枢神经系统中的主要抑制酶。在此,我们报告一例65岁的非裔美国女性,既往有甲状腺功能减退、焦虑和抑郁病史,并伴有精神病性特征,表现为轴向肌强直和乳酸酸中毒。她已出现症状数月,并报告在之前的两家医院进行了广泛的检查,但没有明确的诊断。一个完整的神经和肌肉骨骼调查没有发现阳性结果,除了GAD抗体的存在。患者接受地西泮、替扎尼定和静脉注射免疫球蛋白(IVIG)治疗,病情明显好转,从而巩固了SPS的诊断,这是一种罕见的自身免疫和/或副肿瘤综合征。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Stiff-Person Syndrome: Seeing Past Comorbidities to Reach the Correct Diagnosis.

Stiff-person syndrome (SPS) is a rare disorder seen in approximately one in one million people. Although it is rare, the symptoms and findings of a typical case should paint a clear clinical picture for those who are familiar with the disease. The primary findings in SPS include progressive axial muscle rigidity as well as muscle spasms. These symptoms most commonly occur in the setting of antibodies against Glutamic Acid Decarboxylase (GAD), the rate-limiting enzyme in the production of Gamma-Aminobutyric Acid (GABA), which is the primary inhibitory enzyme in the central nervous system. Here, we report the case of a 65-year-old African-American female with a past medical history of hypothyroidism, anxiety, and depression with psychotic features who presented with axial muscle rigidity and lactic acidosis. She had been symptomatic for several months and reported extensive workups performed at two previous hospitals without a definitive diagnosis. A complete neurological and musculoskeletal investigation yielded no positive findings except for the presence of GAD antibodies. The patient was treated with diazepam, tizanidine, and Intravenous Immunoglobulin (IVIG) with significant improvement, thus solidifying the diagnosis of SPS, a rare autoimmune and/or paraneoplastic syndrome.

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