Iyer Shruti, Palegar Thanmayi, Ojha Ajitesh
From the Department of Neurology, University of Pittsburgh Medical Center, PA.
Neurology. 2024 Nov 12;103(9):e209955. doi: 10.1212/WNL.0000000000209955. Epub 2024 Sep 27.
Neurosarcoidosis poses a significant diagnostic challenge due to the diversity of presenting symptoms. We report a case of a 64-year-old woman with a history of hypertension and diabetes who presented with 3 weeks of progressive dysphonia and dysphagia. Initial differential diagnosis included myasthenia gravis, Guillain-Barré syndrome, infections such as syphilis or HIV, and neurosarcoidosis. Laryngoscopy and EMG demonstrated cranial nerve X and XII palsy. MRI brain was unrevealing, but a CT of the head and neck showed radiologic evidence of left vocal cord paralysis and asymmetric prominence of the left lingual tonsillar tissue. Her clinical findings, elevated CSF-ACE (angiotensin-converting enzyme) and CSF sIL-2R (soluble interleukin-2 receptor), and a previous thoracic tissue biopsy showing granulomas led to a 'probable' diagnosis of neurosarcoidosis after the thorough exclusion of other diagnoses. The patient was treated with pulse steroids and outpatient initiation of infliximab. There was prompt improvement in dysphagia and gradual amelioration of dysarthria and dysphonia. This case illustrates cranial nerve X and XII palsy as the presentation of neurosarcoidosis. In addition, it demonstrates the value of CSF sIL-2R as a biomarker for neurosarcoidosis and highlights the growing popularity of using steroid-sparing agents for treatment to achieve better outcomes with fewer side effects.
由于神经结节病的症状表现多样,其诊断面临重大挑战。我们报告一例64岁女性病例,该患者有高血压和糖尿病病史,出现进行性声音嘶哑和吞咽困难3周。初步鉴别诊断包括重症肌无力、吉兰 - 巴雷综合征、梅毒或HIV等感染以及神经结节病。喉镜检查和肌电图显示第X和第XII对脑神经麻痹。脑部MRI未发现异常,但头颈部CT显示有左侧声带麻痹及左侧舌扁桃体组织不对称突出的影像学证据。在彻底排除其他诊断后,她的临床症状、脑脊液血管紧张素转换酶(ACE)和脑脊液可溶性白细胞介素 - 2受体(sIL - 2R)升高,以及之前的胸部组织活检显示肉芽肿,最终得出神经结节病的“可能”诊断。患者接受了脉冲类固醇治疗,并在门诊开始使用英夫利昔单抗。吞咽困难迅速改善,构音障碍和声音嘶哑逐渐好转。该病例说明了第X和第XII对脑神经麻痹可作为神经结节病的表现。此外,它还展示了脑脊液sIL - 2R作为神经结节病生物标志物的价值,并突出了使用免疫抑制剂进行治疗以获得更好疗效且副作用更少的趋势日益流行。