Saha Biplab Kumar, Saha Aditi, Beegle Scott
Pulmonary and Critical Care Medicine, Albany Medical Center Hospital, Albany, New York, USA.
Internal Medicine, Saint Barnabas Medical Center, Livingston, New Jersey, USA.
BMJ Case Rep. 2019 Aug 26;12(8):e230532. doi: 10.1136/bcr-2019-230532.
Neurosarcoidosis (NS) is a rare disease, affecting only 3%-10% of patients with sarcoidosis. The clinical presentation can be protean and often represents a diagnostic challenge. Cerebrospinal fluid (CSF) ACE level has poor sensitivity, but high specificity for establishing a diagnosis of NS. We present a case of NS in a middle-aged African American woman who presented with dysphagia and dysphonia. An extensive radiological workup was negative for structural brain disease. CSF studies demonstrated lymphocyte predominant pleocytosis with an elevated ACE level. A diagnosis of possible neurosarcoidosis was made. She responded to systemic steroid therapy with complete resolution of her symptoms over the next five months. In the appropriate clinical setting, an elevated CSF ACE level could be of paramount importance for making a diagnosis of NS.
神经结节病（NS）是一种罕见疾病，仅影响3%-10%的结节病患者。其临床表现多样，常常构成诊断挑战。脑脊液（CSF）血管紧张素转换酶（ACE）水平敏感性较差，但对NS诊断具有较高特异性。我们报告一例中年非裔美国女性神经结节病病例，该患者表现为吞咽困难和发音障碍。全面的影像学检查未发现脑部结构性疾病。脑脊液检查显示以淋巴细胞为主的细胞增多，且ACE水平升高。做出了可能的神经结节病诊断。她对全身类固醇治疗有反应，在接下来的五个月里症状完全缓解。在适当的临床背景下，脑脊液ACE水平升高对于NS的诊断可能至关重要。
