The frequency and characteristics of multiple sclerosis misdiagnosis in Latin America: A referral center study in Buenos Aires, Argentina

2021 ◽  
pp. 135245852110675
Author(s):  
María I Gaitán ◽  
Melanie Sanchez ◽  
Mauricio F Farez ◽  
Marcela P Fiol ◽  
Maria C Ysrraelit ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Latin America ◽  
Healthcare System ◽  
Brain Magnetic Resonance Imaging ◽  
System Structure ◽  
Referral Center ◽  
Mcdonald Criteria ◽  
Disease Modifying Therapy ◽  
Magnetic Resonance Imaging Mri ◽  
Record Review

Objective: Most contemporary data concerning the frequency and causes of multiple sclerosis (MS) misdiagnosis are from North America and Europe with different healthcare system structure and resources than countries in Latin America. We sought to determine the frequency, and potential contributors to MS misdiagnosis in patients evaluated at an MS referral center in Argentina. Methods: The study was a retrospective medical record review. We included patients evaluated at the MS Clinic at Fleni between April 2013 and March 2021. Diagnoses prior to consultation, final diagnoses after consultation, demographic, clinical and paraclinical data, and treatment were extracted and classified. Results: Seven hundred thirty-six patients were identified. Five hundred seventy-two presented with an established diagnosis of MS and after evaluation, misdiagnosis was identified in 89 (16%). Women were at 83% greater risk of misdiagnosis ( p = 0.034). The most frequent alternative diagnoses were cerebrovascular disease, radiological isolated syndrome (RIS), and headache. Seventy-four (83%) of misdiagnosed patients presented with a syndrome atypical for demyelination, 62 (70%) had an atypical brain magnetic resonance imaging (MRI), and 54 (61%) were prescribed disease-modifying therapy. Conclusion: Sixteen percent of patients with established MS were subsequently found to have been misdiagnosed. Women were at higher risk for misdiagnosis. Expert application of the McDonald criteria may prevent misdiagnosis and its associated morbidity and healthcare system cost.

Combined visual and motor evoked potentials predict multiple sclerosis disability after 20 years

2014 ◽  
Vol 20 (10) ◽  
pp. 1348-1354 ◽  
Author(s):  
Regina Schlaeger ◽  
Christian Schindler ◽  
Leticia Grize ◽  
Sophie Dellas ◽  
Ernst W Radue ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Motor Evoked Potentials ◽  
Rank Correlation ◽  
Disease Modifying Therapy ◽  
Disability Status ◽  
Adaptive Processes ◽  
Multivariable Regression ◽  
Predictive Relationships ◽  
Magnetic Resonance Imaging Mri

Background: The development of predictors of multiple sclerosis (MS) disability is difficult due to the complex interplay of pathophysiological and adaptive processes. Objective: The purpose of this study was to investigate whether combined evoked potential (EP)-measures allow prediction of MS disability after 20 years. Methods: We examined 28 patients with clinically definite MS according to Poser’s criteria with Expanded Disability Status Scale (EDSS) scores, combined visual and motor EPs at entry (T0), 6 (T1), 12 (T2) and 24 (T3) months, and a cranial magnetic resonance imaging (MRI) scan at T0 and T2. EDSS testing was repeated at year 14 (T4) and year 20 (T5). Spearman rank correlation was used. We performed a multivariable regression analysis to examine predictive relationships of the sum of z-transformed EP latencies ( s-EPT0) and other baseline variables with EDSST5. Results: We found that s-EPT0 correlated with EDSST5 (rho=0.72, p<0.0001) and ΔEDSST5-T0 (rho=0.50, p=0.006). Backward selection resulted in the prediction model: E (EDSST5)=3.91–2.22×therapy+0.079×age+0.057× s-EPT0 (Model 1, R2=0.58) with therapy as binary variable (1=any disease-modifying therapy between T3 and T5, 0=no therapy). Neither EDSST0 nor T2-lesion or gadolinium (Gd)-enhancing lesion quantities at T0 improved prediction of EDSST5. The area under the receiver operating characteristic (ROC) curve was 0.89 for model 1. Conclusions: These results further support a role for combined EP-measures as predictors of long-term disability in MS.

De novo convulsive status epilepticus in patients with multiple sclerosis treated with dalfampridine

2018 ◽  
Vol 25 (4) ◽  
pp. 618-621 ◽  
Author(s):  
Emilie Panicucci ◽  
Mikael Cohen ◽  
Veronique Bourg ◽  
Fanny Rocher ◽  
Pierre Thomas ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Status Epilepticus ◽  
De Novo ◽  
Case Reports ◽  
Brain Magnetic Resonance Imaging ◽  
Convulsive Status Epilepticus ◽  
Biological Tests ◽  
History Of ◽  
Magnetic Resonance Imaging Mri ◽  
History Of Epilepsy

Background: Dalfampridine extended release (DAL) is a broad-spectrum voltage-gated potassium channel blocker that is indicated in multiple sclerosis to improve the nerve conduction of demyelinated axons. Seizures are a known side effect of DAL, which is contraindicated in patients with a history of epilepsy. Objective: Three cases of multiple sclerosis (MS) with de novo convulsive status epilepticus (CSE) probably related to dalfampridine administration are described. Methods: No patients had a history of seizures or renal impairment. Biological tests were normal. A brain magnetic resonance imaging (MRI) showed diffuse cortical and subcortical atrophy without active inflammatory lesions. Results: All three patients presented with CSE that was attributed to DAL and so was discontinued. Conclusion: These case reports illustrate that, aside from seizures, de novo CSE is a potential complication of MS patients treated with DAL.

Early predictors of multiple sclerosis after a typical clinically isolated syndrome

2014 ◽  
Vol 20 (13) ◽  
pp. 1721-1726 ◽  
Author(s):  
Aurélie Ruet ◽  
Georgina Arrambide ◽  
Bruno Brochet ◽  
Cristina Auger ◽  
Eva Simon ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
At Risk ◽  
High Specificity ◽  
Clinically Isolated Syndrome ◽  
Oligoclonal Bands ◽  
Mcdonald Criteria ◽  
Early Predictors ◽  
Patients At Risk ◽  
Magnetic Resonance Imaging Mri ◽  
Periventricular Lesions

Background: The 2010 McDonald criteria allow diagnosing multiple sclerosis (MS) with one magnetic resonance imaging (MRI) scan. Nevertheless, not all patients at risk fulfil criteria at baseline. Other predictive factors (PFs) are: age ≤40 years, positive oligoclonal bands (OBs), and ≥3 periventricular lesions. Objective: The purpose of this study was to evaluate the 2010 McDonald criteria performance and to assess other PFs in patients without dissemination in space (DIS). Methods: Patients with clinically isolated syndrome (CIS) underwent baseline MRI and OB determination with clinical and radiological follow-up. Adjusted hazard ratios (aHRs) for clinically definite MS were estimated for DIS, dissemination in time (DIT), and DIS+DIT. Diagnostic properties at two years were calculated. In cases without DIS, combinations of ≥2 PFs were assessed. Results: A total of 652 patients were recruited; aHRs were 3.8 (2.5–5.8) for DIS, 4.2 (1.9–9.2) for DIT, and 8.6 (5.4–13.8) for DIS+DIT. Sensitivities were 69.6%, 42.3%, and 36.4%, and specificities were 67.3%, 87.9%, and 90.2%, respectively. In patients without DIS, aHRs varied between 2.7–5.5 and specificities ranged from 73.5–89.7% for PF combinations. Conclusion: The high specificity of the 2010 McDonald criteria is confirmed. In patients without DIS, PF combinations could be helpful in identifying those at risk for MS.

Discrepancies in the interpretation of clinical symptoms and signs in the diagnosis of multiple sclerosis. A proposal for standardization

2005 ◽  
Vol 11 (2) ◽  
pp. 227-231 ◽  
Author(s):  
Bernard MJ Uitdehaag ◽  
Ludwig Kappos ◽  
Lars Bauer ◽  
Mark S Freedman ◽  
David Miller ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Demyelinating Disease ◽  
Clinical Symptoms ◽  
Clinical Findings ◽  
Large Trial ◽  
Mri Findings ◽  
Mcdonald Criteria ◽  
Magnetic Resonance Imaging Mri ◽  
Eligibility Assessment

The new McDonald diagnostic criteria for multiple sclerosis (MS) incorporate detailed criteria for the interpretation and classification of magnetic resonance imaging (MRI) findings, but, in contrast, provide no instructions for the interpretation of clinical findings. Because MS according to the McDonald criteria is one of the primary endpoints in a large trial enrolling patients after the first manifestation suggestive for a demyelinating disease (BENEFIT study), it was decided to organize a centralized eligibility assessment for this trial. During this eligibility assessment it was observed that there were marked inconsistencies in the decisions of participating neurologists with respect to the classification of clinical symptoms as being caused by one or more lesions provoking discussions in about one in every five patients. This paper describes these inconsistencies and their sources, and recommends a systematic approach that attempts to reduce the variability in interpreting clinical findings.

Paroxysmal kinesigenic dyskinesia–like phenotype in multiple sclerosis

2017 ◽  
Vol 23 (13) ◽  
pp. 1795-1797 ◽  
Author(s):  
Roxana Pop ◽  
Stefan Kipfer
Keyword(s):  
Multiple Sclerosis ◽  
Gene Mutations ◽  
Brain Magnetic Resonance Imaging ◽  
Acute Onset ◽  
Intravenous Steroid ◽  
Paroxysmal Kinesigenic Dyskinesia ◽  
Hyperkinetic Movement Disorder ◽  
Magnetic Resonance Imaging Mri ◽  
The Right ◽  
Rapid Regression

In April 2015, a 20-year-old woman with multiple sclerosis (MS) presented with acute onset of repetitive abnormal postures and choreatic movements of the right arm, precipitated by voluntary movements (online video 1 and 2). Brain magnetic resonance imaging (MRI) showed a new active MS lesion involving the basal ganglia on the left side (Figure 1(a)). Intravenous steroid treatment resulted in rapid regression of this paroxysmal kinesigenic dyskinesia (PKD)-like hyperkinetic movement disorder. The patient became asymptomatic within 3 months. PKD is characterized by recurrent uni- or bilateral choreoathetosis and usually represents an autosomal dominant inherited disorder caused by PRRT2 gene mutations. As in the present case, a PKD-like phenotype may be associated with MS relapses in presumably genetic negative cases.

Occurrence and microstructural features of slowly expanding lesions on fingolimod or natalizumab treatment in multiple sclerosis

2020 ◽  
pp. 135245852096910
Author(s):  
Paolo Preziosa ◽  
Elisabetta Pagani ◽  
Lucia Moiola ◽  
Mariaemma Rodegher ◽  
Massimo Filippi ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Signal Intensity ◽  
Linear Models ◽  
Magnetization Transfer ◽  
Brain Magnetic Resonance Imaging ◽  
White Matter Lesions ◽  
Magnetization Transfer Ratio ◽  
Treatment Groups ◽  
Natalizumab Treatment ◽  
Magnetic Resonance Imaging Mri

Background: In multiple sclerosis (MS), up to 57% of white matter lesions are chronically active. These slowly expanding lesions (SELs) contribute to disability progression. Objective: The aim of this study is to compare fingolimod and natalizumab effects on progressive linearly enlarging lesions (i.e. SELs), a putative biomarker of smouldering inflammation. Methods: Relapsing-remitting MS patients starting fingolimod ( n = 24) or natalizumab ( n = 28) underwent 3T brain magnetic resonance imaging (MRI) at baseline, months 6, 12 and 24. SELs were identified among baseline-visible lesions showing ⩾ 12.5% of annual increase, calculated by linearly fitting the Jacobian of the nonlinear deformation field between timepoints obtained combining T1- and T2-weighted scans. SEL burden, magnetization transfer ratio (MTR) and T1 signal intensity were compared using linear models. Results: The prevalences of fingolimod (75%) and natalizumab patients (46%) with ⩾ 1 SEL were not significantly different (adjusted- p = 0.08). Fingolimod group had higher SEL number and volume (adjusted- p ⩽ 0.047, not false discovery rate (FDR) survived). In both groups, SELs versus non-SELs showed lower MTR and T1 signal intensity (adjusted- p ⩽ 0.01, FDR-survived). Longitudinally, non-SEL MTR increased in both treatment groups (adjusted- p ⩽ 0.005, FDR-survived). T1 signal intensity decreased in SELs with both treatments (adjusted- p ⩽ 0.049, FDR-survived in fingolimod group) and increased in natalizumab non-SELs (adjusted- p = 0.03, FDR-survived). Conclusion: The effects of natalizumab and fingolimod on SEL occurrence seem modest, with natalizumab being slightly more effective. Both treatments may promote reparative mechanisms in stable or chronic inactive lesions.

Challenges in multiple sclerosis diagnosis: Misunderstanding and misapplication of the McDonald criteria

2020 ◽  
pp. 135245852091049 ◽  
Author(s):  
Andrew J Solomon ◽  
Roman Pettigrew ◽  
Robert T Naismith ◽  
Salim Chahin ◽  
Stephen Krieger ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Optic Neuritis ◽  
Subcortical White Matter ◽  
Web Based ◽  
Mcdonald Criteria ◽  
Correct Definition ◽  
Objective Evidence ◽  
Core Elements ◽  
Magnetic Resonance Imaging Mri ◽  
Definition Of

Objective: To assess comprehension and application of the McDonald criteria. Background: Studies suggest that knowledge gaps for specific core elements of the McDonald criteria may contribute to multiple sclerosis (MS) misdiagnosis. Methods: Neurology residents (NR) and multiple sclerosis specialists (MSS) in North America completed a web-based survey. Results: A total of 160 participants were included: 72 NR and 88 MSS. Syndromes incorrectly identified as typical of MS included: complete transverse myelopathy (35% NR and 15% MSS), intractable vomiting/nausea/hiccoughs (20% NR and 5% MSS), and bilateral optic neuritis/unilateral optic neuritis with poor visual recovery (17% NR and 10% MSS). Periventricular magnetic resonance imaging (MRI) lesions were correctly identified by 39% NR and 52% MSS, and juxtacortical lesions were correctly identified by 28% NR and 53% MSS. The correct definition of “periventricular” was chosen by 38% NR and 61% MSS, and that of “juxtacortical” was chosen by 19% NR and 54% MSS. Regions incorrectly identified for MRI dissemination in space fulfillment included the optic nerve (31% NR and 26% MSS) and the subcortical white matter (11% NR and 18% MSS). The majority of participants assessed previous non-specific neurological symptoms without objective evidence of a central nervous system (CNS) lesion as sufficient for clinical dissemination in time. Conclusion: The McDonald criteria are often misunderstood and misapplied. Concerted educational efforts may prevent MS misdiagnosis.

Relevance of hypointense brain MRI lesions for long-term worsening of clinical disability in relapsing multiple sclerosis

2013 ◽  
Vol 20 (2) ◽  
pp. 214-219 ◽  
Author(s):  
Antonio Giorgio ◽  
Maria Laura Stromillo ◽  
Maria Letizia Bartolozzi ◽  
Francesca Rossi ◽  
Marco Battaglini ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Brain Mri ◽  
Univariate Analysis ◽  
Brain Lesion ◽  
Brain Magnetic Resonance Imaging ◽  
Stepwise Multiple Regression ◽  
Lesion Volume ◽  
Magnetic Resonance Imaging Mri ◽  
Relapsing Remitting Multiple Sclerosis

Background: The accrual of brain focal pathology is considered a good substrate of disability in relapsing–remitting multiple sclerosis (RRMS). However, knowledge on long-term lesion evolution and its relationship with disability progression is poor. Objective: The objective of this paper is to evaluate in RRMS the long-term clinical relevance of brain lesion evolution. Methods: In 58 RRMS patients we acquired, using the same scanner and protocol, brain magnetic resonance imaging (MRI) at baseline and 10±0.5 years later. MRI data were correlated with disability changes as measured by the Expanded Disability Status Scale (EDSS). Results: The annualized 10-year lesion volume (LV) growth was +0.25±0.5 cm3 (+6.7±8.7%) for T2-weighted (T2-W) lesions and +0.20±0.31 cm3 (+11.5±12.3%) for T1-weighted (T1-W) lesions. The univariate analysis showed moderate correlations between baseline MRI measures and EDSS at 10 years ( p < 0.001). Also, 10-year EDSS worsening correlated with LV growth and the number of new/enlarging lesions measured over the same period ( p < 0.005). In the stepwise multiple regression analysis, EDSS worsening over 10 years was best correlated with the combination of baseline T1-W lesion count and increasing T1-W LV ( R = 0.61, p < 0.001). Conclusion: In RRMS patients, long-term brain lesion accrual is associated with worsening in clinical disability. This is particularly true for hypointense, destructive lesions.

Three-year clinical outcomes of relapsing multiple sclerosis patients treated with dimethyl fumarate in a United States community health center

2017 ◽  
Vol 24 (7) ◽  
pp. 942-950 ◽  
Author(s):  
Kyle Smoot ◽  
Kateri J Spinelli ◽  
Tamela Stuchiner ◽  
Lindsay Lucas ◽  
Chiayi Chen ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Disease Duration ◽  
Community Health Center ◽  
Dimethyl Fumarate ◽  
Clinical Relapse ◽  
Disease Modifying Therapy ◽  
Magnetic Resonance Imaging Mri ◽  
Multiple Sclerosis Patients ◽  
Previous Disease ◽  
Relapsing Multiple Sclerosis

Background: Following approval of dimethyl fumarate (DMF), we established a registry of relapsing multiple sclerosis (RMS) patients taking DMF at our community MS center. Objective: To track DMF patients’ tolerability, disease progression, and lymphopenia. Methods: Patients prescribed DMF for RMS from March 2013 to March 2016 were prospectively enrolled ( N = 412). Baseline data, clinical relapses, magnetic resonance imaging (MRI) activity, discontinuation, and lymphocyte counts were captured through chart review. Results: The mean age of patients starting DMF was 49.4 ± 12.0 years and 70% transitioned from a previous disease-modifying therapy (DMT). Of the patients, 38% discontinued DMF, 76% of whom discontinued due to side effects. Clinical relapse and MRI activity were low. Comparing patients who transitioned from interferon-β (IFN), glatiramer acetate (GA), or natalizumab (NTZ), patients previously on NTZ had higher rates of relapse than those previously on GA (annualized relapse rate p = 0.039, percent relapse p = 0.021). Grade III lymphopenia developed in 11% of patients. Lymphopenia was associated with older age ( p < 0.001) and longer disease duration ( p < 0.001). Conclusion: Given the high rates of lymphopenia and discontinuation, it has become our clinical practice to more closely scrutinize older patients and those with a longer disease duration who are potential candidates for initiating DMF therapy.

Application and a proposed modification of the 2010 McDonald criteria for the diagnosis of multiple sclerosis in a Canadian cohort of patients with clinically isolated syndromes

2013 ◽  
Vol 20 (4) ◽  
pp. 458-463 ◽  
Author(s):  
H Kang ◽  
LM Metz ◽  
AL Traboulsee ◽  
M Eliasziw ◽  
GJ Zhao ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Multiple Sclerosis ◽  
Resonance Imaging ◽  
Mri Scan ◽  
Randomized Controlled ◽  
Clinically Isolated Syndromes ◽  
Mcdonald Criteria ◽  
Magnetic Resonance Imaging Mri ◽  
Proposed Modification ◽  
The Impact

Background: The 2005 and 2010 McDonald criteria utilize magnetic resonance imaging (MRI) to provide evidence of disease dissemination in space (DIS) and time (DIT) for the diagnosis of multiple sclerosis (MS) in patients who have clinically isolated syndromes (CIS). Methods: Data from 109 CIS patients not satisfying the 2005 criteria at entry into a randomized controlled minocycline trial were analyzed to determine the proportion who would have been diagnosed with MS at screening based on 2010 criteria. The impact of including symptomatic, as well as asymptomatic, MRI lesions to confirm DIT was also explored. Results: Thirty percent (33/109) of patients, retrospectively, met the 2010 criteria for a diagnosis of MS at baseline. When both symptomatic and asymptomatic lesions were used to confirm DIT, three additional patients met the 2010 criteria. There was a significant 10.1% increase in the proportion of patients who met the 2010 DIS criteria, compared with the 2005 DIS criteria; however, two patients satisfied the 2005 DIS but not 2010 DIS criteria. Conclusion: Using 2010 McDonald criteria, 30% of the CIS patients could be diagnosed with MS using a single MRI scan. Inclusion of symptomatic lesions in the DIT criteria further increases this proportion to 33%.

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