Siri A, Carra-Dalliere Clarisse, Ayrignac X, Pelletier J, Audoin B, Pittion-Vouyovitch S, Debouverie M, Lionnet C, Viala F, Sablot D, Brassat D, Ouallet J-C, Ruet A, Brochet B, Taillandier L, Bauchet L, Derache N, Defer G, Cabre P, de Seze J, Lebrun Frenay C, Cohen M, Labauge P
CHU Nancy, 29 Avenue du Maréchal de Lattre de Tassigny, 54000, Nancy, France.
J Neurol. 2015 Jul;262(7):1637-45. doi: 10.1007/s00415-015-7758-8. Epub 2015 May 1.
Isolated tumefactive demyelinating lesion (TDL) is a rare disease and a challenging entity especially for the differential diagnosis, biopsy indications, and therapeutic decisions. Long-term evolution is not well known. The objective of the study is to describe clinical and MRI characteristics and long-term follow-up of patients with isolated TDL. We performed a retrospective study including patients (1) with one TDL radiologically defined by a ≥20 mm FLAIR hyperintensity involving the white matter associated with T1 hypointensity that enhanced after gadolinium injection and (2) without any other MS lesion on the first MRI. Tumor, abscess, or other inflammatory diseases (ADEM, Baló's concentric sclerosis, systemic disease) were excluded. Sixteen patients (11 females/5 males) were included. The mean age of onset was 35.7 years (range 20-65). MRI disclosed supratentorial lesions with a mean size of 39.4 mm and usually mild edema/mass effect. Peripheral (mainly open-ring pattern) and central (mainly heterogeneous) enhancement were respectively seen in 9/16 and 11/16 patients. CSF study (n = 15) found oligoclonal bands (OCB) in seven. A cerebral biopsy was performed in 11 cases showing acute inflammatory demyelination. Thirteen patients were treated by pulse steroids with marked improvement in ten. At last clinical follow-up (mean 65.8 months, range 6-181), diagnosis was MS in 5 (31 %), isolated TDL in 10 (63 %) and one patient had a second TDL (6 %). Isolated tumefactive demyelinating lesions are a rare diagnostic entity. After a mean follow-up of 5 years, almost one-third became MS whereas most of the patients had no further event.
孤立性瘤样脱髓鞘病变（TDL）是一种罕见疾病，是一个具有挑战性的实体，尤其是在鉴别诊断、活检指征和治疗决策方面。其长期演变情况尚不为人所知。本研究的目的是描述孤立性TDL患者的临床和MRI特征以及长期随访情况。我们进行了一项回顾性研究，纳入的患者需满足以下条件：（1）有一个经放射学定义的TDL，即≥20 mm的液体衰减反转恢复序列（FLAIR）高信号，累及白质且T1加权像低信号，注射钆剂后强化；（2）首次MRI检查时无任何其他多发性硬化（MS）病变。排除肿瘤、脓肿或其他炎症性疾病（急性播散性脑脊髓炎、巴洛同心性硬化、全身性疾病）。共纳入16例患者（11例女性/5例男性）。平均发病年龄为35.7岁（范围20 - 65岁）。MRI显示幕上病变，平均大小为39.4 mm，通常伴有轻度水肿/占位效应。16例患者中，分别有9例和11例可见外周强化（主要为开放环型）和中央强化（主要为不均匀强化）。15例患者进行了脑脊液检查，7例发现寡克隆带（OCB）。11例患者进行了脑活检，显示为急性炎症性脱髓鞘。13例患者接受了脉冲类固醇治疗，10例有明显改善。在最后一次临床随访时（平均65.8个月，范围6 - 181个月），5例（31%）诊断为MS，10例（63%）为孤立性TDL，1例患者出现了第二个TDL（6%）。孤立性瘤样脱髓鞘病变是一种罕见的诊断实体。平均随访5年后
