scholarly journals Neurosarcoidosis: clinical manifestations, investigation and treatment

2020 ◽  
Vol 20 (3) ◽  
pp. 199-212 ◽  
Author(s):  
Desmond P Kidd
Keyword(s):  
Nervous System ◽  
Differential Diagnosis ◽  
Clinical Features ◽  
Clinical Studies ◽  
Neurological Diseases ◽  
Clinical Manifestations ◽  
Biological Treatments ◽  
Histological Confirmation ◽  
Degrees Of Severity

Sarcoidosis affects the nervous system in 10% of cases. When it does so it can affect any part of the nervous system and with all degrees of severity. It forms part of the differential diagnosis in inflammatory, infective, neoplastic and degenerative neurological diseases and may be very difficult to diagnose without histological confirmation. Recent clinical studies and the increasing availability of new biological treatments allow a much clearer understanding of the disease. This review summarises its clinical features, imaging and laboratory characteristics, treatment and outcome.

Reconsidering NMIHBA Core Features: Macrocephaly Is Not a So Unusual Sign in PRUNE1-Related Encephalopathy

2020 ◽  
Author(s):  
Roberta Battini ◽  
Enrico Bertini ◽  
Roberta Milone ◽  
Chiara Aiello ◽  
Rosa Pasquariello ◽  
...  
Keyword(s):  
Nervous System ◽  
Differential Diagnosis ◽  
Clinical Features ◽  
Neurodevelopmental Disorder ◽  
Recurrent Mutation ◽  
Clinical Suspicion ◽  
Alexander Disease ◽  
Brain Anomalies ◽  
Progressive Encephalopathy ◽  
Core Features

Abstract PRUNE1-related disorders manifest as severe neurodevelopmental conditions associated with neurodegeneration, implying a differential diagnosis at birth with static encephalopathies, and later with those manifesting progressive brain damage with the involvement of both the central and the peripheral nervous system.Here we report on another patient with PRUNE1 (p.Asp106Asn) recurrent mutation, whose leukodystrophy, inferior olives hyperintensity, and macrocephaly led to the misleading clinical suspicion of Alexander disease. Clinical features, together with other recent descriptions, suggest avoiding the term “microcephaly” in defining this disorder that could be renamed “neurodevelopmental disorder with progressive encephalopathy, hypotonia, and variable brain anomalies” (NPEHBA).

First Presentation of an Acquired Demyelinating Syndrome

2017 ◽  
Vol 16 (03) ◽  
pp. 164-170
Author(s):  
Rachel Gottlieb-Smith ◽  
Amy Waldman
Keyword(s):  
Multiple Sclerosis ◽  
Central Nervous System ◽  
Nervous System ◽  
Differential Diagnosis ◽  
Optic Neuritis ◽  
Clinical Features ◽  
Neuromyelitis Optica ◽  
Transverse Myelitis ◽  
Acute Disseminated Encephalomyelitis ◽  
The Central Nervous System

AbstractAcquired demyelinating syndromes (ADS) present with acute or subacute monofocal or polyfocal neurologic deficits localizing to the central nervous system. The clinical features of distinct ADS have been carefully characterized including optic neuritis, transverse myelitis, and acute disseminated encephalomyelitis. These disorders may all be monophasic disorders. Alternatively, optic neuritis, partial transverse myelitis, and acute disseminated encephalomyelitis may be first presentations of a relapsing or polyphasic neuroinflammatory disorder, such as multiple sclerosis or neuromyelitis optica. The clinical features of these disorders and the differential diagnosis are discussed in this article.

Systemic lupus erythematosus—clinical features and aetiopathogenesis

2013 ◽  
pp. 923-937
Author(s):  
Caroline Gordon
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Differential Diagnosis ◽  
Autoimmune Disease ◽  
Clinical Features ◽  
Lupus Erythematosus ◽  
Immune Complexes ◽  
Clinical Manifestations ◽  
Systemic Lupus ◽  
Life Threatening ◽  
Symptoms And Signs

Systemic lupus erythematosus (SLE or lupus) is a multisystem, autoimmune disease associated with the formation of autoantibodies that form pathological immune complexes and activate a number of inflammatory pathways. The disease is characterized by remissions and relapses (flares) that can present with a variety of clinical manifestations. The symptoms and signs may range from mild features that can be treated easily to organ and even life threatening manifestations requiring potent immunosuppression. This chapter will review the epidemiology and pathology of lupus, then the clinical features including differential diagnosis and investigation of adult patients with SLE. Finally the classification, diagnosis, monitoring and outcome of lupus patients will be discussed.

Interleukin 6 in Cerebrospinal Fluid of Patients with Meningitis is not a Useful Diagnostic Marker in the Differential Diagnosis of Meningitis

1997 ◽  
Vol 34 (2) ◽  
pp. 165-169 ◽  
Author(s):  
L F López-Cortés ◽  
M Cruz-Ruiz ◽  
J Gómez-Mateos ◽  
D Jiménez-Hernández ◽  
P Viciana-Fernández ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Monoclonal Antibody ◽  
Cerebrospinal Fluid ◽  
Nervous System ◽  
Differential Diagnosis ◽  
Interleukin 6 ◽  
Diagnostic Marker ◽  
Neurological Diseases ◽  
Central Nervous System Infections ◽  
Pyogenic Meningitis

We assayed interleukin 6 (IL-6) concentrations in cerebrospinal fluid (CSF) from patients affected by meningitis of different aetiologies, and verified whether IL-6 can be used as a diagnostic marker in the differential diagnosis of meningitis. We used a monoclonal antibody enzyme immunoassay to test 98 CSF samples classified as pyogenic (15), viral (15), self-resolving aseptic meningitis (20), other infectious meningitis (9), neoplastic (4) and normal CSF from patients with (20) and without (15) non-infectious neurological diseases. CSF IL-6 concentrations were increased in pyogenic meningitis (100%) and in more than 50% of viral and other subarachnoid space infections, and rarely in patients without central nervous system infections. Though patients affected by pyogenic meningitis showed the highest levels of CSF IL-6, only a cut-off point ≥10000 pg/mL was able to discriminate pyogenic meningitis from those of other aetiologies with a specificity ≥94% and a positive predictive value of ≥0·75 but the sensitivity was ≤60%. Therefore, CSF IL-6 concentration is not a good diagnostic marker in the differential diagnosis of meningitis.

scholarly journals Autoimmune encephalitis: differences of clinical features between antibody-positive and antibody-negative conditions

2019 ◽  
Author(s):  
Tingting Li ◽  
Zhihua Si ◽  
Lu Lu ◽  
Aihua Wang
Keyword(s):  
Cerebrospinal Fluid ◽  
Clinical Features ◽  
Neurological Diseases ◽  
Combined Therapy ◽  
Clinical Manifestations ◽  
Autoimmune Encephalitis ◽  
Negative Group ◽  
Positive Group ◽  
Rigorous Treatment ◽  
Wbc Count

Abstract Autoimmune encephalitis is a kind of immune disease with a higher incidence while classification and analysis based upon different states of antibodies are scarcely reported. We intend to compare the clinical features of autoimmune encephalitis between antibody-positive and antibody-negative, with a goal of contributing to early diagnosis and facilitate clinical treatment decisions, especially concerning antibody negative cases. A total of 38 patients with autoimmune encephalitis were enrolled and patients with infections, hereditary, metabolic or toxic neurological diseases were excluded. Based on the serum and cerebrospinal fluid (CSF) antibody results, all patients were divided into antibody-positive group and antibody-negative group. The clinical manifestations of the two groups were compared in detail. The number of antibody-positive group with immuno-related injury (p=0.012), number of combined symptoms (p=0.027) and abnormal secretion of exocrine glands (p=0.023) were higher than antibody-negative group; patients with psychiatry department treatment history exceeded antibody-negative group (p=0.014) and patients with epileptic of antibody-positive group was less than that of antibody-negative group (p=0.028). Majority of patients in antibody-positive group displayed cerebrospinal fluid (CSF) pressure and white blood cell (WBC) count increased while that in a small number of antibody-negative group (p = 0.043, p=0.045). Baseline mRS scores of antibody-positive group were higher than negative group at admission (p=0.049), and mRS in both groups were significantly lower at discharge than admission (p=0.010, p =0.011). Compared with antibody-negative group, the combined therapy in antibody-positive group was more common (p=0.025).Although antibody-positive patients may have more serious conditions,but the data suggest that in spite of some differences between antibody positive and negative patients, they are quite similar and perhaps should be subjected to the same rigorous treatment or management protocols. Immunotherapy might play an important role in relieving symptoms.

scholarly journals Autoimmune encephalitis: differences of clinical features between antibody-positive and antibody-negative conditions

2019 ◽  
Author(s):  
Tingting Li ◽  
Zhihua Si ◽  
Lu Lu ◽  
Aihua Wang
Keyword(s):  
Cerebrospinal Fluid ◽  
Clinical Features ◽  
Neurological Diseases ◽  
Combined Therapy ◽  
Clinical Manifestations ◽  
Autoimmune Encephalitis ◽  
Negative Group ◽  
Positive Group ◽  
Rigorous Treatment ◽  
Wbc Count

Abstract Autoimmune encephalitis is a kind of immune disease with a higher incidence while classification and analysis based upon different states of antibodies are scarcely reported. We intend to compare the clinical features of autoimmune encephalitis between antibody-positive and antibody-negative, with a goal of contributing to early diagnosis and facilitate clinical treatment decisions, especially concerning antibody negative cases. A total of 38 patients with autoimmune encephalitis were enrolled and patients with infections, hereditary, metabolic or toxic neurological diseases were excluded. Based on the serum and cerebrospinal fluid (CSF) antibody results, all patients were divided into antibody-positive group and antibody-negative group. The clinical manifestations of the two groups were compared in detail. The number of antibody-positive group with immuno-related injury (p=0.012), number of combined symptoms (p=0.027) and abnormal secretion of exocrine glands (p=0.023) were higher than antibody-negative group; patients with psychiatry department treatment history exceeded antibody-negative group (p=0.014) and patients with epileptic of antibody-positive group was less than that of antibody-negative group (p=0.028). Majority of patients in antibody-positive group displayed cerebrospinal fluid (CSF) pressure and white blood cell (WBC) count increased while that in a small number of antibody-negative group (p = 0.043, p=0.045). Baseline mRS scores of antibody-positive group were higher than negative group at admission (p=0.049), and mRS in both groups were significantly lower at discharge than admission (p=0.010, p =0.011). Compared with antibody-negative group, the combined therapy in antibody-positive group was more common (p=0.025).Although antibody-positive patients may have more serious conditions,but the data suggest that in spite of some differences between antibody positive and negative patients, they are quite similar and perhaps should be subjected to the same rigorous treatment or management protocols. Immunotherapy might play an important role in relieving symptoms.

scholarly journals Clinical manifestations of neurosarcoidosis

2013 ◽  
Vol 66 (suppl. 1) ◽  
pp. 54-59
Author(s):  
Mihailo Stjepanovic ◽  
Dragana Jovanovic ◽  
Aleksandra Dudvarski-Ilic ◽  
Violeta Mihailovic-Vucinic ◽  
Vesna Skodric-Trifunovic ◽  
...  
Keyword(s):  
Nervous System ◽  
Early Recognition ◽  
Imaging Modality ◽  
Neurological Diseases ◽  
Immunosuppressive Agents ◽  
Cranial Nerves ◽  
Clinical Manifestations ◽  
Neurological Involvement ◽  
High Dose ◽  
Hypothalamic Region

Introduction. Sarcoidosis affects the central nervous system more frequently than it was previously believed. Since the diagnosis of neurosarcoidosis is often delayed, it may result in serious complications. Being non-specific when present, the symptoms may be subtle and resemble those of other neurological diseases. While the cranial nerves are most frequently affected, neurosarcoidosis can involve other nervous system tissues including the meninges, brain parenchyma (especially the hypothalamic region), spinal cord, peripheral nerve and muscle. Discussion and Review of Literature. During the past decade, a significant progress was made in understanding the epidemiology and pathophysiology of neurosarcoidosis, as well as the possibility to diagnose and treat this disease. Studies have shown that the optimal diagnostic imaging modality for neurosarcoidosis is magnetic resonance imaging with gadolinium because it enhances visualization of granulomatous infiltration in neural tissue. Subclinical neurosarcoidosis may not be uncommon in patients with sarcoidosis. It is now evident that neurosarcoidosis does not invariably present as a catastrophic event. Adverse effects associated with high-dose systemic corticosteroids, the standard therapy, have discouraged practitioners from initiating treatment in the absence of significant symptomatic neurological disease. However, other immunosuppressive agents as well newer biologic agents have emerged as an effective, well-tolerated therapeutic alternative to corticosteroids, which are often effective in corticosteroid- recalcitrant cases. Conclusion. Neurosarcoidosis, as a localized granulomatous disease, is possible and not so rare. Early recognition of neurological involvement in patients with undiagnosed or diagnosed sarcoidosis is crucial to prevent complications, which can sometimes be life-threatening.

scholarly journals A Vasculitis, Caused by Neurocysticercosis, Can Mimic Moyamoya Disease

2020 ◽  
Vol 38 (3) ◽  
pp. 217-220
Author(s):  
Jaehong Park ◽  
Eun-Hyeok Choi ◽  
Yeon Hak Chung ◽  
Jae Rim Kim ◽  
Woo-Keun Seo
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Differential Diagnosis ◽  
Internal Carotid ◽  
Clinical Phenotype ◽  
Cerebral Arteries ◽  
Clinical Manifestations ◽  
Parasite Infection ◽  
Cerebral Vasculitis ◽  
Distal Internal Carotid Artery

Neurocysticercosis (NCC) is the most common central nervous system parasite infection, frequently produces seizure, headache, or hydrocephalus as clinical manifestations. Cerebral vasculitis is an infrequent complication of the clinical phenotype of NCC. Moreover, NCC involving basal cerebral arteries, including distal internal carotid artery or middle cerebral artery, has rarely been reported. Therefore, we present a case of NCC with moyamoya-like basal cerebral arterial steno-occlusive disease with an emphasis on the differential diagnosis.

scholarly journals Current views on neurosarcoidosis: pathogenesis, clinical manifestations, diagnosis

2019 ◽  
Vol 11 (3) ◽  
pp. 104-109
Author(s):  
M. S. Pushkaryov ◽  
L. M. Tibekina ◽  
L. P. Churilov
Keyword(s):  
Nervous System ◽  
Inflammatory Response ◽  
Neurological Diseases ◽  
Clinical Manifestations ◽  
Immune Markers ◽  
Multisystem Disease ◽  
Detection Rates ◽  
Death Studies ◽  
Genetically Determined ◽  
Early Manifestation

The review gives data on the etiology, pathogenesis, and clinical manifestations of sarcoidosis, which are associated particularly with damage to the central and peripheral nervous system. Sarcoidosis is currently regarded as a genetically determined, polyetiologic, and multisystem, disease of mainly autoimmune origin, which is accompanied by a productive inflammatory response with the formation of space-occupying noncaseous granulomas. The detection rates for the classical forms of sarcoidosis of the lungs, lymph nodes, and eyes are increasing, while the intravital diagnosis of neurosarcoidosis is still difficult. The latter mimics many other neurological diseases, frequently in persistent disabling disorders and death. Studies focus on searching for imaging, biological and/or immune markers that can reliably diagnose this disease. The problem of small fiber neuropathy that is considered to be the most common and early manifestation of neurosarcoidosis is being actively studied. In 2018, Neurosarcoidosis Consortium Consensus Group (NCCG), USA, proposed the diagnostic criteria for neurosarcoidosis, which are presented in this article.

Systemic lupus erythematosus—clinical features and aetiopathogenesis

2013 ◽  
Author(s):  
Caroline Gordon
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Differential Diagnosis ◽  
Autoimmune Disease ◽  
Clinical Features ◽  
Lupus Erythematosus ◽  
Immune Complexes ◽  
Clinical Manifestations ◽  
Systemic Lupus ◽  
Life Threatening ◽  
Symptoms And Signs

Systemic lupus erythematosus (SLE or lupus) is a multisystem, autoimmune disease associated with the formation of autoantibodies that form pathological immune complexes and activate a number of inflammatory pathways. The disease is characterized by remissions and relapses (flares) that can present with a variety of clinical manifestations. The symptoms and signs may range from mild features that can be treated easily to organ and even life threatening manifestations requiring potent immunosuppression. This chapter will review the epidemiology and pathology of lupus, then the clinical features including differential diagnosis and investigation of adult patients with SLE. Finally the classification, diagnosis, monitoring and outcome of lupus patients will be discussed.

Sign in / Sign up

Export Citation Format

Share Document