Sanchez Kyle, Ullah Aqsa, Waler Alexandria R, Chakfe Yassar
Medicine, University of Central Florida College of Medicine, Orlando, USA.
Neurology, University of Central Florida/Osceola Regional Medical Center, Orlando, USA.
Cureus. 2019 Nov 20;11(11):e6209. doi: 10.7759/cureus.6209.
Stiff-person syndrome (SPS) is a rare, autoimmune, neuromuscular disorder that manifests with axial and proximal muscle stiffness, rigidity, and painful muscle spasms, often causing progressive disability due to limited movement. First-line therapies comprise symptomatic management with γ-aminobutyric acid-modulating drugs such as benzodiazepines and baclofen. Patients resistant to these treatments are often given intravenous immunoglobulin (IVIg). Severe disease refractory to first-line therapy and IVIg may be treated with therapeutic plasma exchange (TPE) or immunomodulatory agents such as rituximab. Current evidence derived from case reports and case series has shown that roughly half of SPS patients treated with TPE report benefits. Here, we report the case of a 68-year-old man with a 20-year history of severe SPS and recurrent falls who was admitted to the emergency department for a traumatic hip fracture. He had significant rigidity in the axial and extremity muscles with persistent spasms of the quadriceps femoris muscle. Postoperatively, he was unable to participate in physical therapy (PT) due to these symptoms. He previously failed treatment with diazepam, baclofen, and monthly IVIg. Under our care, he underwent seven TPE treatments. By the end of treatment, he reported significant improvement in mobility with a resolution of muscle spasms and was able to be discharged to inpatient rehabilitation. This suggests that TPE may offer an effective, safe treatment modality for patients with severe refractory SPS that may significantly improve mobility and disability associated with the disease.
僵人综合征(SPS)是一种罕见的自身免疫性神经肌肉疾病,表现为躯干和近端肌肉僵硬、强直以及疼痛性肌肉痉挛,常因活动受限导致进行性残疾。一线治疗包括使用γ-氨基丁酸调节药物(如苯二氮䓬类药物和巴氯芬)进行症状管理。对这些治疗有抵抗的患者通常给予静脉注射免疫球蛋白(IVIg)。对一线治疗和IVIg难治的严重疾病可能采用治疗性血浆置换(TPE)或免疫调节药物(如利妥昔单抗)进行治疗。目前来自病例报告和病例系列的证据表明,接受TPE治疗的SPS患者中约有一半报告有疗效。在此,我们报告一例68岁男性患者,有20年严重SPS病史且反复跌倒,因创伤性髋部骨折入住急诊科。他的躯干和四肢肌肉有明显强直,股四头肌持续痉挛。术后,由于这些症状,他无法参加物理治疗(PT)。他之前使用地西泮、巴氯芬和每月一次的IVIg治疗均失败。在我们的治疗下,他接受了7次TPE治疗。治疗结束时,他报告活动能力有显著改善,肌肉痉挛消失,能够出院接受住院康复治疗。这表明TPE可能为严重难治性SPS患者提供一种有效且安全的治疗方式,可显著改善与该疾病相关的活动能力和残疾状况。