Neurosarcoidosis: The Pan-Neurology Disease.
Ontology highlight
ABSTRACT:
SUBMITTER: Agarwal A
PROVIDER: S-EPMC10645250 | biostudies-literature | 2023
REPOSITORIES: biostudies-literature
Publications
Neurosarcoidosis: The Pan-Neurology Disease.
Agarwal Ayush A Garg Divyani D Garg Ajay A Shamim Shamim A SA Sharma Meher Chand MC Jain Deepali D Srivastava Achal K AK
Annals of Indian Academy of Neurology 20230701 4
Neurosarcoidosis (NS) is a protean illness with multiple clinical and radiological presentations giving it the moniker of "a chameleon" or the great mimic. NS can present as a wide spectrum of neurological syndromes localizing both to the central and peripheral nervous systems. The absence of a diagnostic serum test makes it difficult to diagnose with certainty and remains largely a histopathological diagnosis and one of exclusion. A high index of suspicion should be there in suspecting NS, and ...[more]
Similar Datasets
Project description:Sarcoidosis is a systemic, inflammatory, granulomatous disease characterized by great variability in organ involvement, clinical course, and severity. While pulmonary manifestations are almost universal, the central and peripheral nervous systems can also be affected. Neurosarcoidosis occurs in ∼5-15% of cases and is among the manifestations with the highest morbidity and mortality. It is known that sarcoidosis has genetic underpinnings and while multiple studies aimed at identifying associations to sarcoidosis susceptibility and prognosis, very few studies have focused on neurosarcoidosis. This review summarizes the genetic studies to date, compares and contrasts those findings with other genetic effects in sarcoidosis, and offers ideas for moving the field forward.
| S-EPMC10865996 | biostudies-literature
Project description:Palatal myoclonus can be primary or secondary. In primary palatal myoclonus, no obvious structural brain lesions can be found within the triangle of Guillain and Mollaret. Common causes of secondary myoclonus include stroke, demyelination, infections, trauma, and neurodegeneration.
| S-EPMC7069855 | biostudies-literature
Project description: Not available
| S-EPMC11688541 | biostudies-literature
Project description:BackgroundCentral nervous system involvement is uncommon in patients with sarcoidosis. It remains a diagnostic challenge for clinicians, as there is a broad differential diagnosis that matches the presenting neurological signs. Often, the imaging findings also overlap with other disease entities. One understudied finding in patients with neurosarcoidosis is the presence of medullary vein engorgement on SWI imaging, termed the "medullary vein sign", which has been postulated to be a specific sign for neurosarcoidosis. This study aims to provide an understanding of the diagnostic potential of the medullary vein sign.MethodsThirty-two patients who presented with neurologic signs concerning for possible neurosarcoidosis were analyzed retrospectively for the presence of the medullary vein sign.ResultsOut of these cases, 7 cases of definitive neurosarcoidosis cases were found based on other imaging signs, biopsy and CSF analysis; the remaining were classified into groups as possible (16), probable (5) and (4) cases of other infectious meningoencephalitis including 2 cases of autoimmune encephalitis. Seven patients among all of these cases were found to have the medullary vein sign on imaging, with five cases with confirmed and two cases from possible neurosarcoidosis. The sensitivity of the medullary vein sign in this study was 71.4%, and the specificity was 92.3%.DiscussionThe benefits of improving diagnostic criteria for neurosarcoidosis include more rapid diagnosis leading to more prompt treatment, less exposure to potentially harmful antibiotics or antifungals, and less long-term neurological effects. Our results support that the medullary vein sign will potentially fill in the diagnostic gaps that have challenged the timely diagnosis of neurosarcoidosis.ConclusionsOur findings support that the medullary vein sign has a high specificity and should be included in the diagnostic criteria for neurosarcoidosis.
| S-EPMC9397064 | biostudies-literature
Project description:Neurosarcoidosis presents a diagnostic challenge in clinical settings, as it has no pathognomonic symptoms or signs and a wide range of differential diagnoses. The aim of this report is to present the pathological features of our group of patients, obtained through a systematic diagnostic approach. This retrospective cohort study enrolled all adult patients primarily diagnosed with neurosarcoidosis at the neurology department of a tertiary center in Sweden over a period of 30 years, from 1990 to 2021. We identified 90 patients, 54 with possible neurosarcoidosis and 36 with probable neurosarcoidosis. CNS biopsy revealed an alternative diagnosis for 24 patients, who were then excluded. The collected data from medical records included demographic and clinical characteristics, systemic and/or neurological isolated involvement, various laboratory tests, including cerebrospinal fluid (CSF), serum analysis, imaging studies (MRI, FDG-PET/CT, and HRCT), nerve conduction studies, electromyography, and pathology reports of central nervous system (CNS), and extra-neural tissue biopsies. Sixty-six patients were included in our cohort. The median age at onset of symptoms was 49 years, with a similar sex distribution. Cranial neuropathies (38%), motor deficit (32%), headache (16%), and pituitary dysfunction (12%) were the most common presenting features. CSF studies were abnormal in 77% of the patients, who showed lymphocytosis (57%), elevated protein (44%), oligoclonal bands (40%), elevated ACE (28%), and raised T lymphocyte CD4+/CD8+ ratios (13%). Strikingly, MRI showed that 17% of the patients presented with isolated pituitary gland lesions. FDG-PET/CT was performed in 22 patients (33%) and confirmed systemic sarcoidosis in 11. Despite our extensive workup, the final classification for our patients only allowed for a definite diagnosis in 14 patients; the remainder were classified as probable (32) or possible (20) neurosarcoidosis. Since 2007, the employment of a structured laboratory and imaging approach and the increasing number of CNS biopsies have facilitated and improved the process of correct attribution in patients with presumptive neurosarcoidosis, especially in patients with isolated neurological lesions. We highlight a higher frequency of pituitary lesions due to neurosarcoidosis than has been classically described. A detailed laboratory diagnostic workup is included.
| S-EPMC10121682 | biostudies-literature
Project description:CASE REPORT: A 74-year-old farmer presented with worsening headaches, gait unsteadiness, and writing difficulties. On examination, he had a tendency to fall to the right and right-sided dysmetria and dysdiadochokinesis. Magnetic resonance imaging initially showed abnormalities in the right cerebellar hemisphere, suggestive of subacute infarct or infiltrating malignancy. Suboccipital craniotomy and biopsy revealed noncaseating granulomas suggestive of sarcoidosis. He was initially treated with steroids and later switched to Infliximab. On follow-up 5 months later, symptoms and imaging had improved. DISCUSSION: Sarcoidosis affects the central nervous system in about 5% of patients. It usually manifests with cranial nerve palsies. It may rarely mimic a tumor as in this patient. Despite the dearth of controlled studies addressing neurosarcoidosis treatment, excellent responses to corticosteroids have been documented. Infliximab has been used as a steroid-sparing agent in neurosarcoidosis. We present this case of neurosarcoidosis presenting as a cerebellar mass to increase awareness of this condition.
| S-EPMC2219770 | biostudies-other
Project description:ObjectiveTo evaluate the performance of Alzheimer disease (AD) cerebrospinal fluid (CSF) biomarkers in a tertiary neurology clinic setting with high frequency of non-AD cases, including normal pressure hydrocephalus (NPH).MethodsThere were 534 patients who underwent AD CSF biomarkers (Roche Elecsys Aβ42, p-Tau181, total-Tau) from April 1, 2020, through April 23, 2021. A behavioral neurologist blinded to CSF results assigned a clinical diagnosis retrospectively on the basis of consensus criteria, and a neuroradiologist blinded to the diagnosis and CSF studies graded brain magnetic resonance images for indicators of CSF dynamics disorders. Associations between biomarkers, diagnoses, and imaging were assessed by χ2, analysis of covariance, and linear regression methods.ResultsMedian age at time of testing was 67 years (range, 19 to 96 years), median symptom duration was 2 years (range, 0.4 to 28 years), and median Short Test of Mental Status score was 30 (range, 0 to 38). Clinical diagnoses significantly correlated with different CSF biomarker values (χ2=208.3; P=10e-4). p-Tau181/Aβ42 ratios above 0.023 positively correlated with Alzheimer dementia (more than individual measures). This ratio also had the best performance for differentiating Alzheimer dementia from NPH (area under the curve, 0.869). Imaging markers supportive of CSF dynamics disorders correlated with low Aβ42, p-Tau181, and total-Tau.ConclusionIn a heterogeneous clinical population, abnormal p-Tau181/Aβ42 ratios (>0.023) have the strongest association with Alzheimer dementia and probably represent a comorbid AD pathologic component in persons clearly matching non-AD neurodegenerative syndromes. Altered CSF dynamics were associated with lower concentrations of AD CSF biomarkers regardless of clinical diagnosis, but the ratio compensates for these changes. In the appropriate clinical setting, an isolated abnormal Aβ42 should prompt consideration of NPH.
| S-EPMC11584168 | biostudies-literature
Project description:To analyze the frequency and clinical phenotype of neurosarcoidosis (NS) in one of the largest nationwide cohorts of patients with sarcoidosis reported from southern Europe. NS was evaluated according to the Diagnostic Criteria for Central Nervous System and Peripheral Nervous System Sarcoidosis recently proposed by Stern et al. Pathologic confirmation of granulomatous disease was used to subclassify NS into definite (confirmation in neurological tissue), probable (confirmation in extraneurological tissue) and possible (no histopathological confirmation of the disease). Of the 1532 patients included in the cohort, 85 (5.5%) fulfilled the Stern criteria for NS (49 women, mean age at diagnosis of NS of 47.6 years, 91% White). These patients developed 103 neurological conditions involving the brain (38%), cranial nerves (36%), the meninges (3%), the spinal cord (10%) and the peripheral nerves (14%); no patient had concomitant central and peripheral nerve involvements. In 59 (69%) patients, neurological involvement preceded or was present at the time of diagnosis of the disease. According to the classification proposed by Stern et al., 11 (13%) were classified as a definite NS, 61 (72%) as a probable NS and the remaining 13 (15%) as a possible NS. In comparison with the systemic phenotype of patients without NS, patients with CNS involvement presented a lower frequency of thoracic involvement (82% vs 93%, q = 0.018), a higher frequency of ocular (27% vs 10%, q < 0.001) and salivary gland (15% vs 4%, q = 0.002) WASOG involvements. In contrast, patients with PNS involvement showed a higher frequency of liver involvement (36% vs 12%, p = 0.02) in comparison with patients without NS. Neurosarcoidosis was identified in 5.5% of patients. CNS involvement prevails significantly over PNS involvement, and both conditions do not overlap in any patient. The systemic phenotype associated to each involvement was clearly differentiated, and can be helpful not only in the early identification of neurological involvement, but also in the systemic evaluation of patients diagnosed with neurosarcoidosis.
| S-EPMC8253777 | biostudies-literature
Project description:ObjectivesTo evaluate the clinical outcomes and relapse rates in neurosarcoidosis patients administered infliximab.MethodsA systematic review was conducted using the MEDLINE, EMBASE, SCOPUS, and Cochrane Library databases. The search included studies from their inception to March 2023. We included case-series studies with at least 10 neurosarcoidosis patients undergoing any treatment type. Studies were also required to report at least one of the following outcomes: response rate, overall survival rate, or relapse rate. This study adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. A random-effects model facilitated the analysis of proportional treatment outcomes. Study quality was evaluated using the modified Newcastle-Ottawa quality assessment scale, while a funnel plot helped detect any publication bias.ResultsSeven studies comprising 237 patients with neurosarcoidosis were included in the analysis. Of these patients, 184 (77.6%) received treatment with infliximab. The pooled proportion of patients showing clinical improvement after infliximab treatment was 0.74 (95% CI 0.64-0.84, I2 = 49.73%). Relapse rates, derived from four studies, stood at 0.38 (95% CI 0.22-0.55, I2 = 56.92%). Most studies reported successful tapering or cessation of corticosteroid dosage in patients receiving infliximab. Adverse effects were reported in 52 (29.4%) patients, of which 39 out of 54 events (72.2%) were linked to infections.InterpretationInfliximab demonstrated potential improvement in clinical outcomes for patients with refractory neurosarcoidosis and showed potential for reducing the dosage of concurrent corticosteroids. However, a degree of relapse was observed, with infections being the primary concern for adverse events.
| S-EPMC10863903 | biostudies-literature
Project description:PurposeWe report a case of neurosarcoidosis that presented simultaneously with oculomotor nerve palsy, contralateral abducens nerve palsy, and paresthesia of both lower limbs.ObservationsA 69-year-old Japanese woman who suffered from repeated diplopia and lower-limb paresthesia was referred to our hospital. Ophthalmic findings included oculomotor nerve and contralateral abducens nerve palsies. No remarkable abnormalities were detected via enhanced brain magnetic resonance imaging (MRI), chest X-ray, and cerebrospinal fluid analysis. Chest computed tomography (CT) was performed to exclude neoplastic lesions; this revealed right hilar lymphadenopathy, and positron emission tomography MRI showed strong 18-F fluorodeoxyglucose uptake in the hilar lymph node. Biopsy of the lymph node showed non-caseating epithelioid granulomatous tissue, leading to a diagnosis of probable neurosarcoidosis. After the initiation of oral prednisolone treatment, the patient experienced complete remission without any recurrence.Conclusions and importanceWhen examining a patient presenting with multiple cranial neuropathies of unknown cause, neurosarcoidosis should be considered as a differential diagnosis and chest CT should be performed even when the chest X-ray and angiotensin-converting enzyme appears normal.
| S-EPMC7330492 | biostudies-literature