瘤样脱髓鞘病变(Tumefactive demyelinating lesions, TDLs)是一种罕见的由免疫介导的中枢神经系统炎性脱髓鞘疾病,病因及发病机制尚不明确,临床表现多样,主要为运动、认知、感觉障碍等,不具有特异性,对免疫治疗有效。但因其影像学具有水肿及占位效应,常被误诊为中枢神经系统肿瘤或占位性病变,部分病人甚至错误地进行手术治疗,给病人造成损伤。目前诊断的金标准仍为脑活检,但此技术的开展有局限性,因此对于该疾病的识别与诊治仍有一定的挑战。本文对TDLs的临床表现、最新影像学技术、治疗及预后等研究进展进行综述。Tumefactive demyelinating lesions (TDLs) are a rare, immune-mediated inflammatory disorder of the central nervous system (CNS). Etiology and pathogenesis remain largely unknown. Clinical manifestations are heterogeneous, primarily encompassing motor, cognitive, and sensory disturbances, which lack specificity but respond effectively to immunotherapy. However, due to its characteristic edema and mass effect on imaging, TDLs are frequently misdiagnosed as CNS tumors or space-occupying lesions, leading some patients to undergo unnecessary surgical interventions, thereby causing potential harm. Currently, brain biopsy remains the gold standard for diagnosis, however, this technique has inherent limitations, posing challenges for accurate identification and diagnosis of TDLs. This review aims to summarize the clinical features, latest imaging modalities, therapeutic approaches, and prognosis of TDLs.
