Gnanapavan Sharmilee, Jaunmuktane Zane, Baruteau Kelly Pegoretti, Gnanasambandam Sakthivel, Schmierer Klaus
Blizard Institute, Barts and The London School of Medicine & Dentistry, Queen Mary, University of London, London, UK.
BMC Neurol. 2014 Apr 2;14:68. doi: 10.1186/1471-2377-14-68.
Tumefactive demyelinating lesions are a rare manifestation of multiple sclerosis (MS). Differential diagnosis of such space occupying lesions may not be straightforward and sometimes necessitate brain biopsy. Impaired cognition is the second most common clinical manifestation of tumefactive MS; however complex cognitive syndromes are unusual.
We report the case of a 30 year old woman who presented with Gerstmann's syndrome. MRI revealed a large heterogeneous contrast enhancing lesion in the left cerebral hemisphere. Intravenous corticosteroids did not stop disease progression. A tumour or cerebral lymphoma was suspected, however brain biopsy confirmed inflammatory demyelination. Following diagnosis of tumefactive MS treatment with natalizumab effectively suppressed disease activity.
The case highlights the need for clinicians, radiologists and surgeons to appreciate the heterogeneous presentation of tumefactive MS. Early brain biopsy facilitates rapid diagnosis and management. Treatment with natalizumab may be useful in cases of tumefactive demyelination where additional evidence supports a diagnosis of relapsing MS.
瘤样脱髓鞘病变是多发性硬化症（MS）的一种罕见表现。对此类占位性病变的鉴别诊断可能并不简单，有时需要进行脑活检。认知障碍是瘤样MS的第二常见临床表现；然而，复杂的认知综合征并不常见。
我们报告一例30岁女性患者，其表现为格斯特曼综合征。磁共振成像（MRI）显示左侧大脑半球有一个大的异质性强化病灶。静脉注射皮质类固醇未能阻止疾病进展。怀疑为肿瘤或脑淋巴瘤，但脑活检证实为炎性脱髓鞘。诊断为瘤样MS后，使用那他珠单抗治疗有效抑制了疾病活动。
该病例强调临床医生、放射科医生和外科医生需要认识到瘤样MS的异质性表现。早期脑活检有助于快速诊断和治疗。在有额外证据支持复发型MS诊断的瘤样脱髓鞘病例中，使用那他珠单抗治疗可能有效。
