University of Connecticut School of Medicine, University of Connecticut School of Medicine, Farmington, Connecticut, USA.
Department of Primary Care Medicine, University of Connecticut School of Medicine, Farmington, Connecticut, USA.
World Neurosurg. 2020 Jul;139:253-259. doi: 10.1016/j.wneu.2020.04.008. Epub 2020 Apr 16.
Sarcoidosis is a granulomatous disease most often affecting the lungs, but extrapulmonary manifestations are also common. While virtually any organ system can be involved, skeletal manifestations are present in 1%-13% of cases. Skull lesions are even more rare. We found 14 case reports describing symptomatic skull lesions in patients with no prior history of sarcoid to better understand the symptomology and disease progression.
Here we present the case of a 57-year-old female with history of sarcoidosis and new-onset forgetfulness, confusion, and headaches who was found to have multiple skull lesions with epidural extension. On histopathologic examination of the excised lesion, noncaseating granulomas were observed and diagnoses of skull sarcoidosis and neurosarcoid were made. Since the patient was actively treated with corticosteroids, the plan was to initiate infliximab.
Sarcoidosis affecting the skull and central nervous system is exceedingly rare and can mimic many pathologies including metastatic bone disease, multiple myeloma, and eosinophilic granulomatosis. With a wide differential, surgical specimen is needed for concrete diagnosis and treatment. While the rates of skeletal involvement are low, a skeletal survey might be an important step in monitoring disease burden in patients, especially as lesions can be asymptomatic.
结节病是一种肉芽肿性疾病，最常累及肺部，但也常见肺外表现。虽然几乎任何器官系统都可能受到影响，但骨骼表现出现在 1%-13%的病例中。颅骨病变甚至更为罕见。我们发现了 14 份病例报告，描述了无结节病既往史的患者出现有症状的颅骨病变，以便更好地了解其症状和疾病进展。
这里我们报告了一例 57 岁女性的病例，该女性患有结节病，且新发健忘、意识混乱和头痛，经检查发现有多个颅骨病变并向硬脑膜外延伸。切除病变的组织病理学检查显示，观察到非干酪样肉芽肿，诊断为颅骨结节病和神经结节病。由于患者正在积极接受皮质类固醇治疗，计划开始使用英夫利昔单抗。
累及颅骨和中枢神经系统的结节病非常罕见，可模仿许多病理学表现，包括转移性骨病、多发性骨髓瘤和嗜酸性肉芽肿。由于鉴别诊断广泛，需要手术标本进行明确诊断和治疗。虽然骨骼受累的发生率较低，但骨骼检查可能是监测患者疾病负担的重要步骤，特别是因为病变可能无症状。
