肌萎缩侧索硬化症与结节病的共病：一例报告及文献系统综述
Co-occurence of amyotrophic lateral sclerosis and sarcoidosis: a case report and systematic review of the literature.
作者信息
Bonan Luigi, Bombardi Marcello, Di Lionardo Andrea, Vitiello Maria, Morresi Simonetta, Longoni Marco
机构信息
Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, 40126, Bologna, Italy.
Department of Neurology and Stroke Unit Cesena (Forlì), Bufalini Hospital, AUSL Romagna, Cesena, Italy.
出版信息
Neurol Sci. 2025 Jun 20. doi: 10.1007/s10072-025-08299-0.
BACKGROUND
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting motor neurons, with 90% of cases being sporadic. Sarcoidosis is an inflammatory disease affecting multiple organs, with neurological complications occurring in 5-10% of patients. Only isolated cases of this extremely rare combination of the two diseases have been reported.
METHODS
We present the case of a 45-year-old man diagnosed with ALS after a 2-year history of progressive upper limb weakness who was incidentally found to be affected by thoraco-abdominal lymphadenopathy. The biopsy confirmed the co-presence of sarcoidosis. We also make a systematic review of the literature of this rare combination.
RESULTS
The patient showed stabilization of the neurological condition and the pneumological disease after administration of immunosuppressive treatment.
CONCLUSION
Our case report and literature review highlight peculiar clinical characteristics of this extremely rare combination of diseases, deepening the understanding of this peculiar phenotype.
背景
肌萎缩侧索硬化症（ALS）是一种影响运动神经元的神经退行性疾病，90%的病例为散发性。结节病是一种影响多个器官的炎症性疾病，5% - 10%的患者会出现神经并发症。仅有这两种疾病极其罕见组合的个别病例报道。
方法
我们报告了一名45岁男性的病例，该患者在出现进行性上肢无力2年后被诊断为ALS，偶然发现患有胸腹部淋巴结病。活检证实同时存在结节病。我们还对这种罕见组合的文献进行了系统综述。
结果
患者在接受免疫抑制治疗后，神经状况和肺部疾病得到稳定。
结论
我们的病例报告和文献综述突出了这种极其罕见疾病组合的特殊临床特征，加深了对这种特殊表型的理解。
Zotero 插件