Differential diagnosis of suspected multiple sclerosis: a consensus approach

BACKGROUND AND OBJECTIVES: Diagnosis of multiple sclerosis (MS) requires exclusion of diseases that could better explain the clinical and paraclinical findings. A systematic process for exclusion of alternative diagnoses has not been defined. An International Panel of MS experts developed consensus perspectives on MS differential diagnosis. METHODS: Using available literature and consensus, we developed guidelines for MS differential diagnosis, focusing on exclusion of potential MS mimics, diagnosis of common initial isolated clinical syndromes, and differentiating between MS and non-MS idiopathic inflammatory demyelinating diseases. RESULTS: We present recommendations for 1) clinical and paraclinical red flags suggesting alternative diagnoses to MS; 2) more precise definition of "clinically isolated syndromes" (CIS), often the first presentations of MS or its alternatives; 3) algorithms for diagnosis of three common CISs related to MS in the optic nerves, brainstem, and spinal cord; and 4) a classification scheme and diagnosis criteria for idiopathic inflammatory demyelinating disorders of the central nervous system. CONCLUSIONS: Differential diagnosis leading to MS or alternatives is complex and a strong evidence base is lacking. Consensus-determined guidelines provide a practical path for diagnosis and will be useful for the non-MS specialist neurologist. Recommendations are made for future research to validate and support these guidelines. Guidance on the differential diagnosis process when MS is under consideration will enhance diagnostic accuracy and precision.     

Differential diagnosis of posterior fossa multiple sclerosis lesions - neuroradiological aspects

. Various infratentorial pathological conditions can mimic multiple sclerosis (MS) both clinically and radiologically. We review the inflammatory, vascular, neoplastic and metabolic conditions which show features similar to those of MS on magnetic resonance imaging (MRI). Beçet's disease, Lyme disease, progressive multifocal leukoencephalopathy, neurosarcoidosis, Whipple's disease, listeria rhombencephalitis, Bickerstaff's brainstem encephalitis, vascultis due to systemic lupus erythematosus, and acute disseminated encephalomyelitis produce inflammatory lesions similar to those of MS in the brainstem and cerebellum. Neoplastic diseases, in particular pontine gliomas and lymphomas, can mimic MS. Vascular ischaemic lesions, either due to infarction produced by occlusion of a major posterior circulation artery or due to small vessel vasculopathy, can lead to posterior fossa lesions. The MRI changes of central pontine myelinolysis can also mimic MS. Diffuse axonal injury, radiation and chemotherapy induce lesions that resemble MS, however the clinical history will exclude these possibilities. Finally, we discuss a few conditions which are similar to MS in clinical presentation but have different MRI appearances, such as brainstem cavernomas, posterior fossa tumoural lesions, aneurysms and vascular loops producing neurovascular conflicts. Analysis of the MRI findigs with clinical history and laboratory data helps to narrow down the diagnosis of the infratentorial pathology.     

Comorbidities at multiple sclerosis diagnosis

The nature and frequency of comorbidities upon notification of multiple sclerosis (MS) are not well known. In France, MS is one of the 30 long-term illnesses (affections de longue durée, ALD) for which 100 % of patients’ health care costs are covered by the main French health insurance system. We conducted a study among 22,087 patients who had contracted MS before their 45th birthday and had obtained ALD status between 1995 and 2004. Comorbidities diagnosed at MS notification were described. The age at which MS was registered in patients with a previous comorbidity was compared with that in those patients with no previous comorbidities. Among the 22,087 patients, 21,119 (95 %) had ALD status for MS only, 653 (3 %) had a comorbidity status diagnosed at the same time as MS. Of these comorbidities, 86.8 % could be grouped into five main categories: psychiatric disease (40.2 %), autoimmune disease (24.5 %), cardiovascular disease (16.2 %), cancer (12.2 %), and metabolic disease (9.0 %). Psychiatric disorders and diabetes were more frequent in MS patients than in the general population of the same age. The mean age at request for ALD status for MS in patients with no comorbidity was 33.6 ± 7.2 years, whereas it was 36.9 ± 6.5 years in those with comorbidities. Comorbidities at MS notification are rare. Psychiatric disorders and diabetes were more frequent in MS patients than in the general population.     

Early diagnosis of multiple sclerosis

Tuberous sclerosis belongs to the diseases diagnosed usually at pre-school or school age. Pringle's naevus ist the basic sing indicating the diagnosis. Genetic determination of the disease makes possibly early diagnosis necessary for correct genetic counselling. In the light of long-term observations of children with tuberous sclerosis the authors discuss the problems connected with early diagnosis of this condition evaluating the diagnostic usefulness of various signs and symptoms of the disease, and the usefulness of radiological examination methods. The importance of computer tomography for early diagnosis, and of family examination in cases of tuberous sclerosis is emphasized.     

The diagnosis of multiple sclerosis

Multiple sclerosis is a clinical diagnosis and as such requires the integration of historical information with neurological examination and relevant laboratory and paraclinical tools, such as magnetic resonance imaging. A recent revision of the diagnostic guidelines for multiple sclerosis has been published that formalizes the use of magnetic resonance imaging information along with the clinical picture. These new guidelines should provide for the earlier and easier diagnosis of multiple sclerosis, useful for both clinical trials and neurological practice.     

多发性硬化的临床诊断

多发性硬化是中枢神经系统炎性脱髓鞘疾病.目前病因未阐明,发病机制与自身免疫性反应有关.临床表现的显著特点为时间多发性(多次发作)和空间多发性(多个病变部位).常用辅助检查手段包括头部或脊髓MRI、脑脊液免疫学、诱发电位等.最新的诊断标准为2010年McDonald标准.目前认为,多发性硬化与视神经脊髓炎在临床、病理、影像等方面不同,由于该病临床表现的多样性及缺乏特异性生物学诊断指标,其诊断仍然是临床医师面临的最大难题之一.     

Communicating the diagnosis of multiple sclerosis

In the frame of current treatment options for multiple sclerosis (MS) and recommendations for early intervention, we investigated the practice and attitudes of neurologists towards MS-diagnosis communication in Greece. We constructed and sent out a 22-item questionnaire to neurologists practising in different employment settings and geographic regions in Greece. Overall, 217 (37.41 %) of 580 neurologists replied. The vast majority (94.9 %) informs the patient of a definite MS diagnosis, and 73.6 % do so immediately, but only 41.7 % use the term multiple sclerosis. Furthermore, neurologists strongly agreed that timing of diagnosis communication depends to a large extent on the individual patient’s personality (62.5 %) and mental state (52.3 %). Most neurologists (78.7 %) inform relatives about the diagnosis, but only in the presence of the patient. In cases where disclosure was delayed, 59.5 % noted that they did not observe any changes as regards the trust or confidence of their patients towards them. Most neurologists also noted that education level (72 %) and mental state (51.9 %), at the time of disclosure influenced patients who did not fully understand the meaning of their diagnosis. This survey provided some useful new findings with respect to MS diagnosis communication; however, the questions of how and possibly how much to communicate warrant further cross-cultural investigation.     

Disclosing the diagnosis of multiple sclerosis

Context The question of how best to disclose to patients the diagnosis of serious and/or incurable neurological diseases has been much explored, but that of when has received little rigorous study. The present study investigates this question in relation to multiple sclerosis (MS), a disease marked by its incurability, unpredictability and predilection for young adults. Objectives We aimed to ascertain the preferences of Greek MS sufferers concerning when they should ideally be informed they have the disease, and their preferences and reactions regarding disclosure of the diagnosis. Design, setting and patients 1200 Greek MS patients,members of the MS Society, were asked to complete a questionnaire regarding their experience of and attitudes towards receiving the diagnosis. Design, setting and patients 1200 Greek MS patients,members of the MS Society, were asked to complete a questionnaire regarding their experience of and attitudes towards receiving the diagnosis. Results 657 patients (55 %) responded. 91% favoured learning the diagnosis immediately, but only 44% had had this experience: 29% had been informed within 1–3 years, and 27% later. Interestingly, however, a significant minority (9 %) suggested a possible preference for delayed delivery of diagnosis and 23.2% stated that concealing the diagnosis would not lead to loss of confidence in their doctor. Conclusion This study—the largest of its kind—provides objective data supporting prompt disclosure of diagnosis as the clearly–expressed preference amongst most patients. Interestingly, however, the results also reemphasise the importance of a difficult medical art: attempting to judge whether an individual patient is one (of the 91%) preferring immediate disclosure—or of the nearly 1–in–10 (9%) who may not.     

Vestibular and other balance disorders in multiple sclerosis. Differential diagnosis of disequilibrium and topognostic localization

Disorders of balance and equilibrium are common in multiple sclerosis (MS). This article reviews areas of central nervous system anatomy that may be involved in MS disequilibrium as well as the role of clinical examination, electrophysiologic testing, and magnetic resonance imaging in the diagnosis and assessment of vestibular dysfunction in MS patients. Relevant literature is reviewed and a case history is presented.