双语病例——多发性硬化症

翻译老师：朱勤勤    衢州市人民医院

朗读老师：冯璐霏      诸暨市中心医院

审校老师：姜春雷   青岛市第九人民医院

30-year-old woman with numbness of the torso 

30岁女性，躯干麻木 

History and MR images

History: A 30-year-old woman presented with several days of sudden-onset numbness to her torso. She denied other associated symptoms, including symptoms in the extremities or fever/chills. She recalled another episode of intermittent numbness several weeks ago that self-resolved. As part of a workup, she underwent an MRI.

Below are representative sagittal images: T1, T2, short-tau inversion recovery (STIR), and T1 with contrast.

病史：30岁女性，突发躯体麻木几天就诊。否认其他相关症状，如四肢症状或发热/发冷。回忆几周前出现过一次间歇性麻木，后自行缓解。因为病情需要，进行了MRI检查。

以下是具有代表性的矢状位图像，T1、T2、短时间反转恢复序列（STIR）以及T1增强图像

Additional images

The patient was started on intravenous steroids and subsequently received a brain MR scan with and without contrast. Below are representative axial images: fluid-attenuated inversion recovery (FLAIR) and T1 postcontrast.

患者静脉内注射类固醇激素后进行脑部 MR 平扫及MR增强检查。以下是具有代表性的轴位影像：液体衰减反转恢复序列 (FLAIR) 和 T1 增强图像。

Findings and diagnosis

Findings

· MR C-spine: Imaging demonstrated a T1 hypointense, T2 hyperintense intramedullary lesion at the level of C6-C7, spanning the length of roughly two vertebral bodies. The lesion shows peripheral enhancement, with an area of adjacent cord edema. The cord is mildly expansile at this region, which may indicate an underlying mass.

· MR brain: Imaging demonstrated a secondary lesion with FLAIR signal abnormality. It does not have enhancement, suggesting a lack of active disease/inflammation. 

· 颈椎MR：C6-C7 椎体水平脊髓内见异常信号影，T1 低信号、T2 高信号，跨越大约两个椎体的长度。病变表现为周边强化，伴周围组织水肿。病变区域脊髓轻度肿胀，提示可能存在肿块。

· 脑MR：FLAIR像可见继发性异常信号，无强化，提示没有活动性病变或炎症。

Differential diagnosis

· In a 30-year-old woman, the differential for spinal cord lesions leans heavily toward autoimmune demyelinating diseases, such as multiple sclerosis, neuromyelitis optica, and transverse myelitis. A short segment lesion (< 2 vertebral bodies) as well as additional sites of disease in the brain favor multiple sclerosis. The lack of enhancement of the cortical lesion also indicates that this lesion is not associated with the patient's current symptoms, separating her episodes of disease in time. This would be helpful in a patient with a less detailed history.

· Given the expansile appearance, a primary cord neoplasm is possible, although lower on the differential. The most common lesions would be an astrocytoma or an ependymoma. Ependymomas tend to enhance, while astrocytomas will be more variable based on their pathologic grade. 

· Spinal cord infarct can also have this appearance and would tend to be eccentric, following a vascular distribution.

Diagnosis: Multiple sclerosis

鉴别诊断

30 岁女性，脊髓病变鉴别诊断倾向于自身免疫性脱髓鞘疾病，例如多发性硬化症、视神经脊髓炎和横贯性脊髓炎。＜2 个椎体节段脊髓病变加上脑内多发病灶支持多发性硬化症。皮层病变无强化也表明该病灶与患者目前的症状无关，及时将该病灶与此次疾病发作分开。这对于没有详细临床病史的患者很有帮助。

· 脊髓肿胀，原发性脊髓肿瘤也有可能，尽管两者难以鉴别。最常见脊髓病变是星形细胞瘤或室管膜瘤。室管膜瘤往往有增强，而星形细胞瘤会根据其病理分级变化较大。

· 脊髓梗塞也可以出现这种病灶沿血管分布而趋于偏心性的表现。

诊断：多发性硬化症

Discussion

Multiple sclerosis

Pathophysiology

Multiple sclerosis is an autoimmune disease, causing focal immune cell infiltration and demyelination of the white-matter tracts within the brain and spinal cord. There are many hypotheses of the exact mechanism. It is generally favored that T cells play a major role in inflammation, while other hypotheses add that B cells likely contribute to the disease due to cytokine production and increased apoptosis of oligodendrocytes, impairing the body's ability to self-recover. Studies have demonstrated high risk of multiple sclerosis among family members, suggesting a genetic component. Environmental factors, such as diet, prior viral/bacterial infections, and smoking, have also been raised. 

讨论

病理生理学

多发性硬化症是一种自身免疫性疾病，会引起大脑和脊髓内白质纤维束局部免疫细胞浸润和脱髓鞘。有许多关于多发性硬化具体机制的假说。大家普遍认为 T 淋巴细胞在炎症中起主要作用；其他假设认为，由于细胞因子产生和少突胶质细胞凋亡增加，B 淋巴细胞可能导致疾病发生，损害了身体的自我修复能力。研究表明，多发性硬化症患者的家庭成员患病风险很高，这表明多发性硬化存在遗传因素。环境因素，例如饮食、先前的病毒/细菌感染、吸烟，也会增加患病率。

Epidemiology

Multiple sclerosis is one of the most prevalent neurological diseases, affecting as many as 120 per 100,000 individuals, with a 2.5-1 ratio of women to men. The majority of patients are diagnosed between the ages of 20 and 40. Estimates suggest as many as 10% of patients are diagnosed over the age of 50.

流行病学

多发性硬化症是最常见的神经系统疾病之一，每 100,000人中就有120 人患病，男女比例为 2.5：1。大多数患者在 20至40岁时诊断出此病。据估计，约10%以上的患者被确诊时年龄超过 50岁。

Clinical presentation

Patients can present with any number of neurological symptoms, including focal numbness and tingling, focal weakness, vision changes, and ataxia. Patients have intermittent symptoms in the relapsing remitting subtype; symptoms last for one to four weeks and self-resolve without treatment. Symptoms are classically separate in time and location (meaning different parts of the central nervous symptom are being injured at different time points). The other major subtype is primary progressive, in which symptoms do not resolve and progress over time in the absence of treatment. 

临床表现

患者可出现各种神经系统症状，包括局部麻木和刺痛、局部无力、视力改变和共济失调。复发-缓解型有间歇发作的特点，症状持续一到四周，且无需治疗即可自行缓解。症状在时间和部位上通常是分离的（意味着中枢神经症状在不同的时间点不同部位受到侵犯）。 另一种主要亚型是原发进展型，在没有治疗的情况下，症状不会随着时间的推移而缓解和进展。 

Imaging features

Multiple sclerosis appears as multifocal white-matter lesions within the brain and spinal cord. Lesions demonstrate T2/FLAIR signal abnormalities, which can enhance, diffusion restrict, and produce adjacent edema during active inflammation. Having both enhancing and nonenhancing lesions meets the diagnostic criteria of having lesions separate in time. The classic 'incomplete ring sign' may help differentiate multiple sclerosis from other rim-enhancing lesions in the brain. As the white-matter tracts can appear more perpendicular to the ventricles in the superior/inferior axis, dedicated FLAIR sagittal images are often obtained during multiple sclerosis-dedicated MR scans. Over time, chronic disease changes occur, including gliosis and atrophy/volume loss. 

影像特点

多发性硬化表现为脑和脊髓内的多灶性白质病变。病变表现为T2FLAIR 信号异常，在炎症活动期，病灶可出现强化、扩散受限以及周围组织水肿。同时具有强化病灶和不强化病灶符合疾病时间多样性的诊断标准。典型的“开环征”有助于将多发性硬化症与脑内其他边缘强化病灶区分开。由于白质纤维束在矢状位表现更垂直于侧脑室，因此多发性硬化症患者MR 扫描通常会使用FLAIR 矢状位图像。随着时间的推移，慢性病灶会发生变化，包括神经胶质增生和萎缩，体积减小。

Treatment

Treatment centers on disease-modifying therapies to slow disease progression. These medications usually focus on monoclonal antibodies to suppress, with treatment regimens changing based on the frequency of acute flares. The treatment of active flares relies on steroids and anti-inflammatory medications. Symptomatic medications such as anticholinergic medications for urinary retention or baclofen for muscle spasticity can be used during acute flares or for persistent symptoms as the disease progresses. 

治疗

治疗以减缓疾病进展的修正疗法为主。这些药物侧重于单克隆抗体进行抑制，治疗方案会根据急性发作的频率而变化。活动性发作的治疗主要是类固醇激素和抗炎药物。对症治疗，如治疗尿潴留的抗胆碱药物或治疗肌肉痉挛的氯苯氨丁酸，可用于急性发作期间或疾病进展过程中的持续状态。