Shirani Afsaneh, Wu Gregory F, Giannini Caterina, Cross Anne H
Department of Neurology, Washington University in Saint Louis School of Medicine, St Louis, Missouri, USA.
Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, USA.
BMJ Case Rep. 2018 Jun 28;2018:bcr-2018-225318. doi: 10.1136/bcr-2018-225318.
Tumefactive appearing lesions on brain imaging can cause a diagnostic dilemma. We report a middle-aged man who presented with right-sided optic neuritis. A brain MRI showed enhancement of the right optic nerve, and non-enhancing white matter lesions including a 3 cm right frontal lesion with adjacent gyral expansion. Cerebrospinal fluid analysis showed five oligoclonal bands not present in serum. Glatiramer acetate was started for suspected tumefactive multiple sclerosis (MS). A follow-up brain MRI 6 months later showed persistence of the frontal gyral expansion. A brain biopsy led to the diagnosis of an oligodendroglioma, isocitrate dehydrogenase-mutant and 1 p/19q co-deleted (WHO grade II), managed with surgical resection and radiotherapy. Postoperative brain MRI showed a new enhancing periventricular lesion, making the choice of optimal disease-modifying therapy for MS challenging. This case highlights the possibility of coexistence of MS and oligodendroglioma, and emphasises the importance of a tissue diagnosis when atypical MS imaging features are present.
脑成像上出现的肿胀样病变可导致诊断困境。我们报告一名中年男性,他表现为右侧视神经炎。脑部磁共振成像(MRI)显示右侧视神经强化,以及非强化的白质病变,包括一个3厘米的右侧额叶病变伴相邻脑回膨隆。脑脊液分析显示血清中不存在的5条寡克隆带。因疑似肿胀型多发性硬化(MS)开始使用醋酸格拉替雷治疗。6个月后的随访脑部MRI显示额叶脑回膨隆持续存在。脑部活检诊断为异柠檬酸脱氢酶突变且1p/19q共缺失的少突胶质细胞瘤(世界卫生组织二级),采用手术切除和放疗进行治疗。术后脑部MRI显示脑室周围出现一个新的强化病变,这使得为MS选择最佳疾病修正治疗具有挑战性。该病例突出了MS和少突胶质细胞瘤共存的可能性,并强调了出现非典型MS影像学特征时进行组织诊断的重要性。