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Concurrent diagnoses of Tuberous sclerosis and multiple sclerosis

Tuberous sclerosis (TS) is a monogenic disorder which causes disabling neurological symptoms. Similarly, multiple sclerosis (MS) may result in disability, but in contrast, is diagnosed without genetic testing. Clinicians are advised to exercise caution in diagnosing MS in the presence of a pre-existing genetic disorder, as it may be a potential 'red flag'. A dual diagnosis of MS and TS has not previously been reported in the literature. We provide two cases of known cases of TS who presented with new neurological symptoms and associated physical signs compatible with a dual diagnosis of TS/MS.

The concurrence of multiple sclerosis and amyotrophic lateral sclerosis.

We report the clinical and pathological findings of the unusual combination of two idiopathic central nervous system diseases, multiple sclerosis and amyotrophic lateral sclerosis in a 56 year old physician with a twenty-seven year history of a disease initially characterized by relapses and remissions, followed by an eight year quiescent period. During the last year of life there was rapid deterioration with development of generalized weakness, atrophy, weight loss and fasciculations of body and tongue, and associated difficulty with swallowing and sudden respiratory failure. The autopsy conf…

[Multiple evanescent white dot syndrome and multiple sclerosis].

PURPOSE: To describe a patient who fulfilled the criteria for both clinically definite multiple evanescent white dot syndrome (MEWDS) and multiple sclerosis. METHODS: We performed a complete ophthalmologic and neurological examination in a 30-year-old woman who was referred to our department for blurred vision in her left eye (LE) with photopsia. RESULTS: Following a complete ophthalmologic examination, the patient was diagnosed with MEWDS and coincident multiple sclerosis. She underwent therapy with intravenous methylprednisolone (1000 mg/day) for three days, followed by oral prednisone (1 …

The International Multiple Sclerosis Visual System Consortium: Advancing Visual System Research in Multiple Sclerosis.

BACKGROUND: The International Multiple Sclerosis Visual System Consortium (IMSVISUAL) was formed in November 2014 with the primary goal of improving research, care, and education regarding the role of the visual system in multiple sclerosis (MS) and related disorders. METHODS: In this review, we describe the formation, goals, activities, and structure of IMSVISUAL, as well as the relationship of IMSVISUAL with the Americas Committee for Treatment and Research in MS (ACTRIMS). Finally, we provide an overview of the work IMSVISUAL has completed to date, as well as an outline of research project…

Autoimmune screening panel in patients with multiple sclerosis: A Vienna multiple sclerosis database study.

BACKGROUND AND PURPOSE: Autoimmune screening panels (ASPs) are often ordered as a part of the diagnostic workup in people with suspected multiple sclerosis (MS). However, data on the significance of ASP seropositivity in MS are scarce. This study aimed to investigate whether routine implementation of ASPs is viable in MS diagnostic workup. METHODS: In this retrospective study, we included patients from the Vienna Multiple Sclerosis Database who were diagnosed with MS according to current McDonald criteria between 2014 and 2021 and had an ASP performed. RESULTS: We analyzed 212 patients (mean…

Pure spinal multiple sclerosis: A possible novel entity within the multiple sclerosis disease spectrum.

We identified five female patients retrospectively with relapsing short-segment partial myelitis whose clinical and paraclinical features were suggestive of cord involvement of multiple sclerosis (MS)-type albeit not rigidly fulfilling the 2017 McDonald criteria. Notably, these patients had not developed any typical MS-like brain lesions despite repeated neuroimaging assessments over years. Comprehensive work-up for differential diagnoses of MS and other causes of transverse myelitis particularly neuromyelitis optica spectrum disorders had been consistently negative on longitudinal follow-up. …

Повсеместность коморбидной мигрени в множестве склерозов: сосуществуют ли множественный склероз и мигрень?

Множественный склероз (MS) является хроническим воспалительным заболеванием, вызывающим многофукаловое демиэлирование и повреждение аксона в центральной нервной системе. Последние исследования свидетельствуют о том, что среди пациентов, страдающих НР, наблюдается более высокий уровень заболеваемости мигренью, чем среди населения в целом. В ходе этого перекрестного исследования, проведенного в одном центре, была проведена оценка распространенности мигрени среди пациентов, проходящих курс лечения с целью изменения болезней (ДМТ). МЕТОДЫ: Всего 205 Включены пациенты с сенсорным синдромом. Все уча

Совпадение в аннотации оригинала
BACKGROUND: Multiple sclerosis (MS) is a chronic inflammatory disease causing multifocal demyelination and axonal damage in the central nervous system. Recent studies indicate that MS patients have a higher prevalence of migraine than the general population. This cross-sectional, single-centre study assessed migraine prevalence in MS patients receiving disea…

Multiple sclerosis and seizures: A retrospective observational study in a multiple sclerosis autoimmunity center of excellence.

PURPOSE: The prevalence of epilepsy in patients with multiple sclerosis (MS) is three to six times the prevalence in the general population. Mechanisms resulting in increased seizure risk are not fully understood. Our objective is to characterize patients with MS and epilepsy regarding timing of diagnoses, MS and seizure (SZ) type, EEG findings suggesting cortical dysfunction, frequency of status epilepticus (SE), and seizure freedom. METHODS: This was a single center retrospective study. Cases were obtained via DataDirect via the University of Michigan electronic medical record from January …

Validation of the Persian version of dysphagia in multiple sclerosis questionnaire for the assessment of dysphagia in multiple sclerosis.

Background: About one third of patients with multiple sclerosis (MS) experience dysphagia. Dysphagia can cause complications such as malnutrition, lung infections, aspiration pneumonia and dehydration, thus it is very helpful to diagnose dysphagia as soon as possible. The aim in this study was to translate dysphagia in multiple sclerosis (DYMUS) questionnaire into Farsi and and validate it. Methods: Forward-backward method was used to translate original English version of DYMUS into farsi, and then the questionnaire (one for each patient) was filled in through asking questions from 200 patient…

An update on neuro-ophthalmology of multiple sclerosis: the visual system as a model to study multiple sclerosis.

PURPOSE OF REVIEW: The purpose of this review is to familiarize the reader with the landscape of current neuro-ophthalmology research in the field of multiple sclerosis and to highlight important findings, directions of future research and advances in the clinical management of visual and ocular motor manifestations of multiple sclerosis. RECENT FINDINGS: Research pertaining to the visual system in multiple sclerosis has identified new biomarkers of disease and is contributing to a better understanding of disease mechanisms. Progress has been made in the symptomatic management of visual manif…

Associations of chrononutrition and sleep with fatigue in multiple sclerosis: an analysis of the Swiss Multiple Sclerosis Registry.

BACKGROUND: Fatigue is a common symptom of multiple sclerosis (MS) and impacts quality of life, yet the role of chrononutrition and sleep in MS management remains underexplored. We aimed to investigate the cross-sectional associations of meal and sleep timing with fatigue in persons with MS (pwMS). METHODS: We implemented a chrononutrition questionnaire within the Swiss MS Registry to quantify the relationships between meal timing, sleep patterns and fatigue among pwMS. RESULTS: In unadjusted analyses of 958 participants (median age 49 years, 73% women), a longer interval between the first a…

The Knowledge About the Impact of Multiple Sclerosis on Pregnancy and Maternity Among Patients with Multiple Sclerosis.

Background/Objectives: Multiple sclerosis (MS) is most frequently diagnosed in young adults of reproductive age. Although current evidence indicates that MS itself does not usually preclude pregnancy or parenthood, patients may still have insufficient knowledge in this area. The aim of this study was to assess knowledge about the relationship of MS and pregnancy, childbirth, breastfeeding, fertility, and parenthood among women and men with MS. Methods: This single-center questionnaire-based study included 194 patients with MS: 144 women and 50 men. Participants completed a 12-item paper-and-pe…

Validation of the Persian version of the dysphagia in multiple sclerosis questionnaire for the assessment of dysphagia in multiple sclerosis.

BACKGROUND: This study is to evaluate swallowing problems (dysphasia) in multiple sclerosis (MS) patients; the importance of using tools that are durable and appropriate is well understood. One of the most trusted tools is the dysphagia in multiple sclerosis (DYMUS) test. The aim of this study was to prepare a Persian version and to evaluate the validity and reliability of the test. MATERIALS AND METHODS: This methodological study was conducted on 236 MS patients in Southeast of Iran from August 2015 to February 2016. After translation and cultural adaptation of the test in Persian, the valid…

Palliative Care in Multiple Sclerosis.

OBJECTIVE: This article reviews palliative care concepts valuable to neurologists caring for people with multiple sclerosis (MS), describes the three stages of palliative principles in care delivery, and suggests triggers to refer for specialized palliative care interventions. LATEST DEVELOPMENTS: Advances in disease-modifying therapies have extended life expectancy and reduced disability progression in patients with multiple sclerosis. However, palliative care remains underutilized in addressing persistent symptoms, care partner burden, and psychosocial challenges. ESSENTIAL POINTS: Palliat…