Department of Medical Sciences, Neurology, Uppsala University, 751 85, Uppsala, Sweden.
Department of Medical Sciences, Neurosurgery, Uppsala University, Uppsala, Sweden.
Sci Rep. 2023 Apr 21;13(1):6539. doi: 10.1038/s41598-023-33631-z.
Neurosarcoidosis presents a diagnostic challenge in clinical settings, as it has no pathognomonic symptoms or signs and a wide range of differential diagnoses. The aim of this report is to present the pathological features of our group of patients, obtained through a systematic diagnostic approach. This retrospective cohort study enrolled all adult patients primarily diagnosed with neurosarcoidosis at the neurology department of a tertiary center in Sweden over a period of 30 years, from 1990 to 2021. We identified 90 patients, 54 with possible neurosarcoidosis and 36 with probable neurosarcoidosis. CNS biopsy revealed an alternative diagnosis for 24 patients, who were then excluded. The collected data from medical records included demographic and clinical characteristics, systemic and/or neurological isolated involvement, various laboratory tests, including cerebrospinal fluid (CSF), serum analysis, imaging studies (MRI, FDG-PET/CT, and HRCT), nerve conduction studies, electromyography, and pathology reports of central nervous system (CNS), and extra-neural tissue biopsies. Sixty-six patients were included in our cohort. The median age at onset of symptoms was 49 years, with a similar sex distribution. Cranial neuropathies (38%), motor deficit (32%), headache (16%), and pituitary dysfunction (12%) were the most common presenting features. CSF studies were abnormal in 77% of the patients, who showed lymphocytosis (57%), elevated protein (44%), oligoclonal bands (40%), elevated ACE (28%), and raised T lymphocyte CD4/CD8 ratios (13%). Strikingly, MRI showed that 17% of the patients presented with isolated pituitary gland lesions. FDG-PET/CT was performed in 22 patients (33%) and confirmed systemic sarcoidosis in 11. Despite our extensive workup, the final classification for our patients only allowed for a definite diagnosis in 14 patients; the remainder were classified as probable (32) or possible (20) neurosarcoidosis. Since 2007, the employment of a structured laboratory and imaging approach and the increasing number of CNS biopsies have facilitated and improved the process of correct attribution in patients with presumptive neurosarcoidosis, especially in patients with isolated neurological lesions. We highlight a higher frequency of pituitary lesions due to neurosarcoidosis than has been classically described. A detailed laboratory diagnostic workup is included.
神经结节病在临床环境中具有诊断挑战性，因为它没有特征性的症状或体征，并且有广泛的鉴别诊断。本报告的目的是介绍我们一组患者的病理特征，这些患者是通过系统的诊断方法获得的。这项回顾性队列研究纳入了 1990 年至 2021 年期间瑞典一家三级中心神经内科首次诊断为神经结节病的所有成年患者，共 90 例，其中 54 例为可能的神经结节病，36 例为可能的神经结节病。中枢神经系统活检为 24 例患者提供了另一种诊断，随后将这些患者排除在外。从病历中收集的数据包括人口统计学和临床特征、系统和/或神经孤立性受累、各种实验室检查，包括脑脊液（CSF）、血清分析、影像学研究（MRI、FDG-PET/CT 和 HRCT）、神经传导研究、肌电图和中枢神经系统（CNS）以及神经外组织活检的病理学报告。我们的队列纳入了 66 例患者。症状发作的中位年龄为 49 岁，性别分布相似。颅神经病变（38%）、运动障碍（32%）、头痛（16%）和垂体功能障碍（12%）是最常见的表现特征。77%的患者 CSF 研究异常，其中 57%表现为淋巴细胞增多症，44%表现为蛋白升高，40%表现为寡克隆带，28%表现为 ACE 升高，13%表现为 T 淋巴细胞 CD4/CD8 比值升高。值得注意的是，MRI 显示 17%的患者表现为孤立性垂体病变。22 例患者（33%）进行了 FDG-PET/CT，其中 11 例证实存在全身结节病。尽管我们进行了广泛的检查，但最终仅对 14 例患者做出明确诊断；其余患者被归类为可能（32 例）或可能（20 例）神经结节病。自 2007 年以来，采用结构化的实验室和影像学方法以及增加中枢神经系统活检数量，有助于并改善了疑似神经结节病患者的正确归因过程，尤其是在孤立性神经病变患者中。我们强调了神经结节病引起的垂体病变频率高于经典描述。包括详细的实验室诊断检查。
