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病例报告

患者，男性，51岁。因视力障碍7年，躯干及下肢无力伴麻木3年，复发5天。7年前右眼视力突然下降，3个月后开始严重视力丧失;5年前视力突然下降，考虑当时原发性双侧视神经萎缩(ONA)。常规治疗无改善，无自动恢复或长期视力改善。当时对大脑和脊髓进行了检查。患者三年前出现双下肢无力、麻木，逐渐累及躯干，伴尿便失禁。在当地医院接受治疗，被认为是急性脊髓炎(AM)。5天前患感冒，双侧乳房以下出现乳头、麻木、无力，站立、行走困难，改变体位头痛。既往无损伤和中毒史，家族史无类似疾病。

体检:患者思维清晰，计算能力、记忆力、方向感良好。患者双侧角膜轻度混浊，瞳孔直径约4毫米，光反射暗淡。双目视力微弱，手指在胸前无法辨认，但睁开或闭上眼睛均正常。眼底检查示双侧视神经萎缩，视神经乳头改变明显，视神经盘呈灰白色，视网膜动脉细窄。嘴没有歪斜，俯卧居中，反射减弱，耸肩正常。轻度呼吸困难，心率90次/分，节奏整齐，无心脏杂音。腹部平坦，无压痛。双上肢肌张力正常，双下肢肌张力降低。左上肢肌力3级，右上肢肌力2级，双下肢肌力1级。双侧胸腰段第二胸平面以下疼痛明显减轻，有胸部疼痛减退过渡区。 The right Babinski sign is positive sign suspicious, double lower limbs mild muscle atrophy.

辅助检查

随机血糖:5.6mmol/L，尿蛋白在常规尿中略高，总白细胞略高。脊髓MRI常规及增强检查显示胸腰椎脊髓异常信号(图1和图2)，特别是T5-11胸髓内肿大，钆增强，考虑脊髓炎性病变。头部MRI检查显示左侧额顶叶下方白质交界处及双侧基底节区有散在异常信号，T1低信号，T2高信号(图3、图4)。脑脊液(CSF)检查显示压力为130mm H₂O，细胞总数增加，单个核细胞(MNC)为52×10⁶/ L。蛋白电泳寡克隆条带(OB)阳性，血清OB阴性。视觉诱发电位(VEP)和体感诱发电位(SEP)检查异常，主要表现为P100潜伏期和振幅下降。

图1所示。MRI-T1:胸椎和腰椎脊髓发现异常信号

图2。MRI-T1:胸椎和腰椎脊髓发现异常信号

图3。头部mri - t1显示一些散在的异常信号点

图4。头部MRI-T2显示一些散在的异常信号点

入院诊断:1、视神经脊髓炎(NMO;2、多发性硬化(MS))。入院后给予间断吸氧、心电图监测、膀胱冲洗、留置导尿、预防褥疮、偏瘫肢体功能训练。依达拉奉、银杏叶提取物、Vit B1、Vit B12、Vit D等治疗。阿昔洛韦用于抗病毒，头孢哌酮舒巴坦用于抗炎治疗，大剂量甲泼尼松龙静脉脉冲治疗5天，无效。该患者入院10天后要求自动出院。当时，生命体征稳定，但肢体功能没有恢复。

讨论

多发性硬化症是一种发生于脑和脊髓附近白质的自身免疫性疾病，伴脱髓鞘炎症。脊髓型多发性硬化症是一种发生于脊髓而非大脑的多发性硬化症。如果损伤发生在脊髓和视神经，MS通常被诊断为NMO。但NMO是MS的一种亚型还是一种独立的疾病，目前仍存在争议。Mezer等人通过定量神经影像学评估了大分子组织体积(macromolecular tissue volume, MTV)，认为MTV不仅对诊断MS具有良好的敏感性，而且可以通过病理效应的变化分析患者[1]的认知功能。本病例行常规头脊髓MRI，加病史、症状、体征等辅助检查，鉴别诊断MS和NMO。AM是指脊髓脱髓鞘病变引起的非特异性炎症引起的疾病，具有髓鞘肿胀、脱髓鞘脱髓鞘、轴突变性、外周淋巴细胞增殖、血管炎症细胞浸润等病理改变。流感、麻疹、水痘、麻疹、腮腺炎、EB病毒、巨细胞病毒和支原体等病原体可能与该病的发生有关。患者入院前曾有上呼吸道感染，临床表现典型，加上脊髓MRI发现的部分病变，似乎更支持急性脊髓炎的诊断。但该患者在7年前和5年前左右视力明显下降，眼底情况异常。 It may have the intrinsic relation that he was suffering from ONA and later AM, so the final diagnosis as NMO is more reasonable, just a special NMO. Cock etc. has detected 4 cases of NMO (Devic syndrome) in mitochondrial DNA (mtDNA) mutation, any positive results are not found in 3460bp, 11778bp, 14484bp and other multiple sites, they reasoned that mtDNA mutations are not important in the pathogenesis of NMO [2]. This case did not detect any gene mutation, but it is not thought that gene mutation analysis is not important for diagnosis of NMO or MS. The common causes of ONA have retrobulbar neuritis, hereditary optic neuropathy, orbital tumors and intracranial tumor compression, ocular injury, neurotoxin, papillitis, papilla edema, retinal vein inflammation, retinal pigment degeneration, central retinal artery occlusion, membrane quinine poisoning, ischemic optic neuropathy, glaucoma, tuberculous meningitis, NMO, arachnoid phlogistic in the optic chiasm etc. Primary ONA generally refers to the cause is unknown, at least so far unknown exact etiology of ONA. If this patient was diagnosed as primary ONA, then the subsequent AM should be as an independent disease, but this patient was diagnosed as AM 3 years ago, vision loss is still in progress and optic nerve atrophy symptoms is still under development and aggravation, and the vision almost completely lost at that time. The longitudinal lesions up to 5 vertebral segments together with swelling and gadolinium enhanced also support this diagnosis for NMO. In addition, some abnormal signals in brain MRI, scattered under white matter and unlike the vascular distribution of the ischemic lesions, are found in this patient after admission, the number of cells increased and oligoclonal bands positive in CSF, VEP and SEP abnormal found, all support the diagnosis of MS in brain instead of encephalitis. Combining with a variety of symptoms and disease development the coexistence of NMO and MS are quite sure. Notably, NMO and MS are rarely existing in one patient, and sometimes the coexistence of spinal cord MS and regular MS condition is seen, as the difference of mechanism between NMO and MS is obvious but the difference of mechanism between spinal cord type MS and regular MS is a little.

为什么NMO和MS同时存在?可能的原因是他的患者有特应性体质，不仅在细胞免疫方面有较强的甲状腺功能亢进，而且在水通道蛋白抗体上也有较强的生成，属于IgG类，该抗体是诊断NMO的指标，具有较强的特异性[3]。Liu等收集了中国大陆138例患者，研究了MS和NMO在鉴别诊断中的作用。NMO- igg抗体阳性的MS 60例，NMO 73例，相似MS 5例。他们发现，综合分析头部MRI、诱发电位和实验室数据(如OB值、CD4+/CD8+)可以有效区分MS和NMO。如果头部MRI没有病变，则必须在MRI中发现脊髓纵向延伸病变(LESCLs)，以明确诊断NMO[4]。NMO-IgG抗体阳性的5例患者与本病例有一定的相似之处。该患者NMO和MS同时存在，提示NMO和MS发病机制中可能存在部分共同的遗传分子途径。NMO的经典疗法是大剂量甲基泼尼松龙脉冲疗法(MPPT)。最近Araki等人使用白介素6受体拮抗剂tocilizumab (TCZ)[5]治疗了7例NMO患者。 It has been found that the neuropathic pain and fatigue were reduced and motor function was improved after one year for treatment. This case was treated with MPPT for 5 days, together with other symptomatic and supportive treatments, but the effect was poor, which suggest that this is a very special case of NMO again.

参考文献

1. Mezer A, Yeatman JD, Stikov N, Kay KN, Cho NJ, et al.(2013)用磁共振成像量化个体大脑局部组织体积和组成。Nat地中海19日:1667 - 1672。(Crossref)
2. Cock H, Mandler R, Ahmed W, Schapira AH(1997)视神经脊髓炎(Devic’s综合征):与Leber遗传性视神经病变中发现的原发性线粒体DNA突变无关。神经外科与精神病学杂志62:85 - 87。(Crossref)
3. 张晓红，徐晓红(2007)多发性硬化症与视神经脊髓炎的诊断。《中华学杂志》87: 2739 - 2740。(Crossref)
4. 刘勇，赵刚，于浩，吕超，李铮等。(2014)中国大陆人群视神经脊髓炎与多发性硬化症的鉴别研究。中华医学J(英)127: 3213 - 3218。(Crossref)
5. Araki M, Matsuoka T, Miyamoto K, Kusunoki S, Okamoto T，等(2014)抗il -6受体抗体tocilizumab治疗视神经脊髓炎的疗效:一项初步研究。神经学82: 1302 - 1306。(Crossref)