Diagnosis of multiple sclerosis

There is no pathognomonic symptom, sign, or paraclinical result that provides an unfailingly accurate diagnosis of multiple sclerosis (MS), and hence, MS remains largely a clinical diagnosis. However, being a clinical diagnosis does not mean that the diagnosis of MS is one of exclusion. Increasingly sophisticated guidelines and objective paraclinical findings are generally sufficient to allow the clinician to confirm or rule out the diagnosis with confidence. This article presents the most recent guidelines for using clinical, radiological, and other paraclinical information and the red flags that should alert the clinician to investigate other diagnostic possibilities.     

Diagnosis and treatment of multiple sclerosis

Multiple sclerosis (MS) is an immune-mediated disease of the central nervous system that usually has onset between 20 and 40 years of age. The causes of MS are unknown, but it probably evolves among genetically susceptible individuals as an infrequent response to environmental factors. The diagnosis is based on careful evaluation of the disease history, clinical examination as well as paraclinical examination, aiming to document disseminated disease in both time and space. No cure is available, but corticosteroids can be used for relapses, various symptomatic treatments exist, and several long-term, disease-modifying therapies are available. This article reviews the diagnosis and treatment of MS, focusing on treatment of relapses and disease-modifying therapies.     

Diagnosis and management of multiple sclerosis: case studies

Although substantial capabilities have emerged in the ability to globally manage patients who have MS, clinicians continue to be confronted with formidable challenges. Reduction in disease activity and its impact on dis-ability progression remains the central objective of disease-modifying therapy and most current MS research initiatives. Nevertheless, the principal factors that determine the day-to-day limitations on functional capabilities(activities of daily living, work performance, quality of life, and so forth)are a derivative of the pathophysiology of the disease process itself. The substrate for these limitations is inherent in the pathology of demyelination and axonal dysfunction. Identifying measures that can optimize the performance and fidelity of axonal conduction mechanisms may translate into a reduction in MS-related symptoms. Chronic neurologic disease management (with MS representing a signature example) can be optimized when all members of the care team (including patients and their families) collaborate in the co-ordination of interdisciplinary care models that address all aspects of suffering.     

Diagnosis and therapy for neurogenic bladder dysfunctions in multiple sclerosis patients

Neurogenic lower urinary tract dysfunctions are common in patients with multiple sclerosis and for most of them urinary dysfunction has the most negative impact on their social life. No correlation exists between clinical urinary symptoms and urodynamic patterns. Abnormal urodynamic patterns may be present in asymptomatic patients. Both clinical and urodynamic findings may change during the course of the illness. Early diagnostic approach and scheduled follow-ups are mandatory in order to prevent upper urinary tract complications and improve quality of life (QoL).     

多发性硬化患者产后复发并发吉兰-巴雷综合征的诊治

目的探讨多发性硬化(MS)患者产后复发并发吉兰-巴雷综合征的临床特点,以期为临床医生提供诊断、鉴别诊断及治疗线索。方法报道本院1例MS患者产后复发并发吉兰-巴雷综合征的临床表现、血液、脑脊液、影像学、电生理检查和治疗,评价治疗前后EDSS评分。分析临床资料特点并随访4个月。结果患者为27岁女性,主要表现为产后四肢无力(下肢重于上肢)、麻木、呼吸困难伴尿便障碍,EDSS评分:9.0分。血液检查正常,腰穿压力测不到,压颈试验不升,脑脊液白细胞数6×106·L,蛋白285mg·d L-1,颈段增强MRI示颈段脊髓肿胀,存在颈段梗阻;肌电图(EMG)示上下肢周围神经源性损害,下肢重于上肢。给予患者甲强龙、丙种球蛋白治疗。出院时EDSS评分:6.0分,随访6月时EDSS评分:4.0分。结论 MS患者产后复发率高,并发吉兰-巴雷综合征病情重,应注意鉴别诊断,可应用丙种球蛋白预防治疗。     

Benign multiple sclerosis

A small fraction of patients with multiple sclerosis (MS) have a benign course of the disease. The definition of benign MS has been heavily weighted towards physical disability and in particular ambulation. However, patients who are fully ambulatory may still be heavily disabled by non-motor symptoms like fatigue, pain, depression and cognitive dysfunction. These non-motor symptoms should be considered when defining benign MS.     

Pediatric multiple sclerosis

In the past 5 years, there has been an exponential growth in the knowledge about multiple sclerosis (MS) in children and adolescents. Recent publications have shed light on its diagnosis, pathogenesis, clinical course, and treatment. However, there remain several key areas that require further exploration. This article summarizes the current state of knowledge on pediatric MS and discusses future avenues of investigation.     

晚发型多发性硬化

本文报告１５例晚发型多发性硬化（ＭＳ），首次发病年龄５０－６０岁，占同期住院ＭＳ患者的６．４％。通过对其临床表现、病变部位和预后等与同期成人ＭＳ对照分析，表现晚发型ＭＳ慢性起病多见，临床表现和受累部位与成人ＭＳ相似，但脊髓受累较成人ＭＳ更为常见，晚发型ＭＳ大多病情进展快，运动功能障碍严重，病情多不能彻底缓解，预后差。     

Pediatric multiple sclerosis

Pediatric multiple sclerosis (MS) represents a particular MS subgroup with unique diagnostic challenges and many unanswered questions. Due to the narrow window of environmental exposures and clinical disease expression, children with MS may represent a particularly important group to study to gain a better understanding of MS pathogenesis. Acute disseminated encephalomyelitis (ADEM) is more common in children than in adults, often making the differential diagnosis of MS, particularly a clinically isolated syndrome, quite difficult. Although both disorders represent acute inflammatory disorders of the central nervous system and have overlapping symptoms, ADEM is typically (not always) self-limiting. The presence of encephalopathy is much more characteristic of ADEM and may help in distinguishing between the two. Young children (under ten years old) with MS differ the most from adults. They have a lower frequency of oligoclonal bands in their cerebrospinal fluid and are less likely to have discrete lesions on MRI. Problems of cognitive dysfunction and psychosocial adjustment have particularly serious implications in both children and teenagers with MS. Increased awareness of these difficulties and interventions are needed. While clinical research on therapies to alter the disease course is limited, the available data fortunately suggests that disease-modifying therapy is well tolerated and likely to be effective. Ultimately, multinational research studies are necessary to advance our knowledge of the causes, symptoms, and treatment of pediatric MS and such collaborations are currently underway.     

Primary-progressive multiple sclerosis

About 10-15% of patients with multiple sclerosis (MS) present with gradually increasing neurological disability, a disorder known as primary-progressive multiple sclerosis (PPMS). Compared with relapse-onset multiple sclerosis, people with PPMS are older at onset and a higher proportion are men. Inflammatory white-matter lesions are less evident but diffuse axonal loss and microglial activation are seen in healthy-looking white matter, in addition to cortical demyelination, and quantitative MRI shows atrophy and intrinsic abnormalities in the grey matter and the white matter. Spinal cord atrophy corresponds to the usual clinical presentation of progressive spastic paraplegia. Although neuroaxonal degeneration seems to underlie PPMS, the pathogenesis and the extent to which immune-mediated mechanisms operate is unclear. MRI of the brain and spinal cord, and examination of the CSF, are important investigations for diagnosis; conventional immunomodulatory therapies, such as interferon beta and glatiramer acetate, are ineffective. Future research should focus on the clarification of the mechanisms of axonal loss, improvements to the design of clinical trials, and the development of effective neuroprotective treatments.