Monteiro Ana Carolina, de Santana Tomás França, Chumbo Carolina, Negrão Catarina, Valido Teresa, Figueiredo Filipa, Matos Clara
Internal Medicine Department, Hospital Professor Doutor Fernando Fonseca, Lisbon, Portugal.
Radiology Department, Hospital CUF Tejo, Lisbon, Portugal.
Eur J Case Rep Intern Med. 2024 Sep 14;11(9):004779. doi: 10.12890/2024_004779. eCollection 2024.
Tumefactive multiple sclerosis (TMS) is a rare variant of multiple sclerosis that presents with a large demyelinating lesion in the central nervous system, accompanied by peripheral ring-like enhancement, perilesional oedema and mass effect. We report a case of a 59-year-old woman who was admitted to the hospital with a four-day history of somnolence, muscle weakness in her left extremities and ultimately, loss of consciousness. Over the following 48 hours, the patient's condition worsened with progressive consciousness impairment. Although the results of the initial head computed tomography (CT) scan supported the diagnosis of a multifocal ischaemic stroke, toxoplasmosis was proposed as the most credible diagnostic hypothesis by brain magnetic resonance imaging (MRI). Due to the adverse clinical progression following the initiation of targeted therapy and inconclusive investigation, a brain biopsy was performed, which was indicative of active TMS in a subacute phase. The patient was started on plasmapheresis and natalizumab along with corticosteroids, with a very good response. In conclusion, we report a biopsy-proven TMS diagnosis in a patient that clinically mimicked an acute stroke and was radiographically confounded with intracranial toxoplasmosis. It highlights that TMS is an uncommon neurological demyelinating disease that is often misdiagnosed. It also emphasises the importance of establishing an accurate differential diagnosis to promptly initiate aggressive immunosuppressive treatment, which may result in a more favourable prognosis.
Tumefactive multiple sclerosis is an uncommon variant of multiple sclerosis that presents a substantial diagnostic challenge due to its potential to resemble the clinical and radiological characteristics of other central nervous system (CNS) pathologies, including neoplasms, granulomatous diseases, abscesses and vasculitis.Despite the fact that multimodal imaging studies may help narrow the differential diagnosis, a biopsy is often required to reach a definitive diagnosis and should not be delayed.Awareness of this condition among non-neurologists is critical since a timely and accurate diagnosis prompts aggressive immunomodulatory treatments that may delay a second demyelinating event or progression to clinically definite multiple sclerosis.
瘤样多发性硬化(TMS)是多发性硬化的一种罕见变异型,表现为中枢神经系统内的一个大的脱髓鞘病变,伴有周边环状强化、病灶周围水肿和占位效应。我们报告一例59岁女性患者,因嗜睡、左下肢肌无力并最终意识丧失4天入院。在接下来的48小时内,患者病情恶化,意识障碍进行性加重。尽管最初的头部计算机断层扫描(CT)结果支持多灶性缺血性卒中的诊断,但脑磁共振成像(MRI)提示弓形虫病是最可信的诊断假设。由于靶向治疗开始后临床病情进展不利且检查结果不明确,遂进行了脑活检,结果显示为亚急性期活动性TMS。患者开始接受血浆置换、那他珠单抗以及皮质类固醇治疗,反应良好。总之,我们报告了一例经活检证实的TMS诊断病例,该患者临床上酷似急性卒中,影像学上与颅内弓形虫病混淆。这突出表明TMS是一种罕见的神经脱髓鞘疾病,常被误诊。它还强调了建立准确鉴别诊断以迅速启动积极免疫抑制治疗的重要性,这可能导致更有利的预后。
瘤样多发性硬化是多发性硬化的一种罕见变异型,因其可能类似于其他中枢神经系统(CNS)疾病(包括肿瘤、肉芽肿性疾病、脓肿和血管炎)的临床和放射学特征,故而带来了巨大的诊断挑战。尽管多模态影像学研究可能有助于缩小鉴别诊断范围,但通常仍需要进行活检才能做出明确诊断,且不应延迟。非神经科医生对这种疾病的认识至关重要,因为及时准确的诊断能促使进行积极的免疫调节治疗,这可能会延迟第二次脱髓鞘事件或进展为临床确诊的多发性硬化。