Department of Neurology & Stroke, Eberhard-Karls University Tübingen, Tübingen, Germany.
Department of Neuroradiology, University of Tuebingen, Tübingen, Germany.
Wien Med Wochenschr. 2022 Nov;172(15-16):379-382. doi: 10.1007/s10354-021-00893-z. Epub 2021 Nov 3.
We here report on a 60-year-old woman with familial Mediterranean fever (FMF) who developed cognitive impairment 16 years after initial diagnosis. On MRI, a new extensive white matter lesion in the right frontal lobe with mild local mass effect but without contrast enhancement was detectable and classified as a tumefactive lesion. Additional MR spectroscopy showed markedly increased choline levels accompanied by a significant lactate peak, highly suggestive of a low-florid demyelinating process. Although diffuse central nervous system (CNS) lesions have been described in single FMF cases, tumefactive lesions have not been observed in FMF patients without concomitant multiple sclerosis. In summary, this case highlights rare differential diagnoses of atypical, inflammatory CNS lesions and the clinical utility of MR spectroscopy.
我们在此报告一例家族性地中海热（FMF）患者，其在初始诊断 16 年后出现认知障碍。MRI 显示右侧额叶新出现广泛的白质病变，伴有轻微的局部肿块效应，但无对比增强，被归类为肿块样病变。进一步的磁共振波谱分析显示，胆碱水平显著升高，伴有明显的乳酸峰，强烈提示低度炎症性脱髓鞘过程。尽管在单个 FMF 病例中已经描述了弥漫性中枢神经系统（CNS）病变，但在没有合并多发性硬化症的 FMF 患者中并未观察到肿块样病变。总之，本病例强调了不典型、炎症性 CNS 病变的罕见鉴别诊断以及磁共振波谱的临床应用价值。
