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Introduction: Cognitive impairment and retinal atrophy have been proposed as two potential markers of neurodegeneration in multiple sclerosis (MS). We aimed at assessing the relation between peripapillary retinal nerve fiber layer (pRNFL) and macular ganglion cell layer (mGCL) atrophy and cognitive performance in early MS., Methods: This is a multicenter cross-sectional study on patients with early MS (clinically isolated syndrome and relapsing-remitting MS), with an EDSS score ≤ 3.0. Patients with previous optic neuritis, other ocular diseases, psychiatric illness, or recent relapse were excluded. All patients underwent standardized optical coherence tomography (OCT) and neuropsychological evaluation with validated tests for MS patients. Cognitive impairment was defined as having two cognitive tasks below age- and education-adjusted norms., Results: We recruited 52 patients with early MS, with an average age of 37 years (SD = 10.5), an average disease duration of 3.69 years (SD = 2.3), and a median EDSS of 1.0 (IQR = 0.5). In this sample, 15/52 patients presented cognitive impairment. Regarding OCT measurements, 7/52 patients had an average pRNFL below the 5th percentile and 2/52 had an average mGCL below the 5th percentile. The average pRNFL thickness was comparable in cognitively impaired and cognitively preserved patients (100.3 μm vs 103.1 μm, p = 0.52); the average mGCL thickness had also similar values between groups (50.5 μm vs 53 μm, p = 0.38)., Conclusions: Cognitive impairment was frequent in our sample of early MS. However, no association with reduced pRNFL or mGCL thickness was found. When compared to OCT, cognitive assessment could provide an earlier marker of neurodegeneration in MS., (© 2022. Fondazione Società Italiana di Neurologia.)

Background: Optic neuropathies (ON) have several aetiologies and sometimes the diagnosis established ab initio is redefined after further investigations and/or new neurological events. We aim with this study to report clinical, paraclinical findings, treatment choices and disease course in patients admitted with a suspicion of acute or subacute optic neuropathy and to explore the diagnosis redefinition during follow-up and evaluate possible predictive factors that may influence that change., Methods: We retrospectively reviewed the medical records of 156 patients with ON admitted to the ward of our Neurology Department, between January 2004 and August 2019. Clinical, laboratory and imaging data, as well as treatment protocols and follow-up were analysed., Results: At the time of discharge from the ward, our cohort comprised 83 idiopathic ON (53.2%), 38 multiple sclerosis-related ON (24.4%), 23 ischemic ON (14.7%), 5 neuromyelitis optica spectrum disorder-related ON (3.2%), 1 Chronic relapsing inflammatory optic neuropathy (0.6%), 1 Leber hereditary optic neuropathy (0.6%), 1 vitamin B12 deficiency ON (0.6%), 2 Behçet ON (1.3%), 1 systemic lupus erythematosus - associated ON (0.6%), 1 syphilitic ON (0.6%). During follow-up, 129 patients retained the ward's discharge diagnosis (82.7%) while in 27 it was redefined (17.3%). The median time between admission and change in diagnosis was 12.3 (5.4 - 42.9) months. 67.1% of valid patients manifested atypical characteristics of optic neuritis (presence of one of the following clinical findings: bilateral eye involvement, visual acuity ≤ 0.1 at admission, worsening or non-substantial recovery of visual acuity during hospitalization), while only 32.9% presented with ON typical for optic neuritis. Idiopathic ON was the "etiology" at discharge that changed the most during follow-up both in ON typical and atypical for optic neuritis. More than a half of the individuals with MS-RON in our study presented visual acuity at admission ≤ 0.1. Multivariate Cox regression analysis demonstrated that the patients with ON atypical for optic neuritis had lower risk of having the initial diagnosis changed (HR = 0.320, 95% CI = 0.138-0.743, p = 0.008)., Conclusion: Our study illustrates that some patients admitted with ON may have their diagnosis redefined during follow-up and it demonstrates that patients with ON atypical for optic neuritis are those in which the diagnosis is more likely to remain during follow-up. Furthermore, our population has clinical and paraclinical characteristics that reinforce conclusions from previous international studies., (Copyright © 2020 Elsevier B.V. All rights reserved.)

Objectives: The diagnostic criteria for inflammatory demyelinating diseases of the central nervous system have evolved over the past years. Close follow up and accurate multiple sclerosis (MS) diagnosis are key to optimal treatment. We retrospectively reviewed the patients who had a diagnostic revision. Methods: The medical records of patients referred to our MS clinic (Centro Hospitalar Universitário de São João, Porto, Portugal) (n = 635) between 2009 and 2016 were reviewed. A total of 62 patients were identified, 44 were misdiagnosed with MS; 18 had another diagnosis, later redefined as MS. A total of 44 controls (with MS diagnosis) were matched to the 44 misdiagnosed cases, and a statistical analysis was carried out to determine the predictors of misdiagnosis. Results: The mean age of our population (n = 44) was 51 ± 11 years; 77% were women. The mean duration of misdiagnosis was 13 years. Optic neuritis was the most frequent presenting symptom (25%), followed by spinal cord syndrome and non‐specific neurological symptoms (20% each). The most frequent MS misdiagnoses were non‐specific white matter hyperintensities, optic neuritis and cerebrovascular disease. The mean Extended Disability Status Scale and Multiple Sclerosis Severity Score was 0 (SD 2) and 0.6 (SD 2), respectively, in the misdiagnosed group, and 3.5 (SD 5.4) and 3.2 (SD 5.6), respectively, in the control group. From all the variables analyzed, we found that the presence of black holes and spinal cord lesions were predictors of a correct MS diagnosis (P < 0,05). Conclusions: Our series underlines the need to continuously rethink an MS diagnosis and to thoughtfully use paraclinical tests (oligoclonal bands and magnetic resonance imaging) avoiding an unfounded diagnosis. The first event might not be atypical, as has been reported in other series. [ABSTRACT FROM AUTHOR]