What General Neurologists Should Know about Autoinflammatory Syndromes?

Autoinflammatory disorders encompass a wide range of conditions with systemic and neurological symptoms, which can be acquired or inherited. These diseases are characterized by an abnormal response of the innate immune system, leading to an excessive inflammatory reaction. On the other hand, autoimmune diseases result from dysregulation of the adaptive immune response. Disease flares are characterized by systemic inflammation affecting the skin, muscles, joints, serosa, and eyes, accompanied by unexplained fever and elevated acute phase reactants. Autoinflammatory syndromes can present with various neurological manifestations, such as aseptic meningitis, meningoencephalitis, sensorineural hearing loss, and others. Early recognition of these manifestations by general neurologists can have a significant impact on the prognosis of patients. Timely and targeted therapy can prevent long-term disability by reducing chronic inflammation. This review provides an overview of recently reported neuroinflammatory phenotypes, with a specific focus on genetic factors, clinical manifestations, and treatment options. General neurologists should have a good understanding of these important diseases.

Immunosuppressors and immunomodulators in Neurology - Part I: a guide for management of patients underimmunotherapy.

For patients with autoimmune diseases, the risks and benefits of immunosuppressive or immunomodulatory treatment are a matter of continual concern. Knowledge of the follow-up routine for each drug is crucial, in order to attain better outcomes and avoid new disease activity or occurrence of adverse effects. To achieve control of autoimmune diseases, immunosuppressive and immunomodulatory drugs act on different pathways of the immune response. Knowledge of the mechanisms of action of these drugs and their recommended doses, adverse reactions and risks of infection and malignancy is essential for safe treatment. Each drug has a specific safety profile, and management should be adapted for different circumstances during the treatment. Primary prophylaxis for opportunistic infections and vaccination are indispensable steps during the treatment plan, given that these prevent potential severe infectious complications. General neurologists frequently prescribe immunosuppressive and immunomodulatory drugs, and awareness of the characteristics of each drug is crucial for treatment success. Implementation of a routine before, during and after use of these drugs avoids treatment-related complications and enables superior disease control.

Immunosuppressors and immunomodulators in Neurology - Part I: a guide for management of patients underimmunotherapy / Imunossupressores e imunomoduladores em Neurologia - Parte I: um guia para o manejo de pacientes em imunoterapia

ABSTRACT For patients with autoimmune diseases, the risks and benefits of immunosuppressive or immunomodulatory treatment are a matter of continual concern. Knowledge of the follow-up routine for each drug is crucial, in order to attain better outcomes and avoid new disease activity or occurrence of adverse effects. To achieve control of autoimmune diseases, immunosuppressive and immunomodulatory drugs act on different pathways of the immune response. Knowledge of the mechanisms of action of these drugs and their recommended doses, adverse reactions and risks of infection and malignancy is essential for safe treatment. Each drug has a specific safety profile, and management should be adapted for different circumstances during the treatment. Primary prophylaxis for opportunistic infections and vaccination are indispensable steps during the treatment plan, given that these prevent potential severe infectious complications. General neurologists frequently prescribe immunosuppressive and immunomodulatory drugs, and awareness of the characteristics of each drug is crucial for treatment success. Implementation of a routine before, during and after use of these drugs avoids treatment-related complications and enables superior disease control.

RESUMO Pacientes com doenças autoimunes exigem uma constante preocupação com os riscos e benefícios do tratamento imunossupressor ou imunomodulador. O conhecimento das rotinas no uso de cada uma dessas drogas é fundamental para o bom desfecho clínico, evitando a piora da doença ou efeitos colaterais. As drogas imunossupressoras e imunomoduladoras agem em diferentes pontos da resposta imunológica a fim de controlar a doença para qual são indicadas. O conhecimento do mecanismo de ação, principais posologias, efeitos adversos e os riscos de infecções e neoplasias relacionadas ao uso dessas medicações são fundamentais para um tratamento seguro. Cada uma delas apresenta um perfil específico de complicações e o manejo deve ser individualizado em diferentes cenários ao longo do seguimento do paciente. O uso de medicações para profilaxia primária de infecções e a vacinação são pontos essenciais no planejamento do tratamento, prevenindo potenciais complicações infecciosas ao longo do acompanhamento. O uso de imunossupressores e imunomoduladores é uma frequente realidade no dia-a-dia do neurologista, e o conhecimento das características de cada droga é crucial para o sucesso do tratamento. A realização de uma rotina antes, durante e depois do uso dessas medicações evita complicações relacionadas com o tratamento e alcança um melhor controle da doença.

Clinical and Epidemiological Characterization of Neurological Consults: When a Neurological Evaluation Is Requested.

BACKGROUND AND OBJECTIVES: Medical consultation by a specialist physician consists of an evaluation to review diagnosis and management of patients with some neurological conditions referred from other specialty wards. This mode of care delivery has gained relevance in the field of neurology and adequate training on it is valuable, allowing neurologists to provide state-of-the-art management to patients with neurological manifestations. The present study aimed to characterize neurology consults and to discuss the roles of the neurologist within a hospital setting. METHODS: A prospective analysis of neurological consultations provided to inpatients of a university hospital in São Paulo, Brazil, was performed from September 2016 to September 2017. These patients were followed by the principal investigator, who was not involved in their care. RESULTS: We evaluated data from 117 female and 106 male inpatients with a mean age of 53.8 ± 2.4. The medical specialties that most frequently requested neurological consultations were Internal Medicine (17%), Cardiology (11.2%) and Pulmonology (9.4%). The main reasons for a neurology consultation request were seizures (15.6%); decreased level of consciousness (8.9%) and confusion (7.1%). The most frequent diagnosis in patients receiving a neurology consult were stroke (10.2%); hypoxic-ischemic encephalopathy (5.3%) and sepsis (2.2%). CONCLUSION: Our findings show the growing importance of the role of neurologists within hospital settings as many medical conditions present with neurological manifestations and the significance of the neurohospitalist model of care.

A clinical approach to hypertrophic pachymeningitis.

IMPORTANCE: Hypertrophic pachymeningitis (HP) is a non-usual manifestation of rheumatologic, infectious, and neoplastic diseases. Etiological diagnosis is a challenge, but when made promptly it creates a window of opportunity for treatment, with the possibility of a total reversal of symptoms. OBSERVATIONS: HP is an inflammatory process of the dura mater that can occur as a manifestation of sarcoidosis, granulomatosis with polyangiitis, and IgG4-related disease. The HP case evaluation is extensive and includes central nervous system imaging, cerebrospinal fluid analysis, serology, rheumatologic tests, and systemic survey for other manifestations sites. After systemic investigation, meningeal biopsy might be necessary. Etiology guides HP treatment, and autoimmune disorders are treated with corticosteroids alone or associated with an immunosuppressor. CONCLUSION: HP is a manifestation of several diseases, and a precise etiological diagnosis is crucial because of the difference among treatments. An extensive investigation of patients with HP helps early diagnosis and correct treatment.

A clinical approach to hypertrophic pachymeningitis / Abordagem diagnóstica para paquimeningite hipertrófica

ABSTRACT Importance: Hypertrophic pachymeningitis (HP) is a non-usual manifestation of rheumatologic, infectious, and neoplastic diseases. Etiological diagnosis is a challenge, but when made promptly it creates a window of opportunity for treatment, with the possibility of a total reversal of symptoms. Observations: HP is an inflammatory process of the dura mater that can occur as a manifestation of sarcoidosis, granulomatosis with polyangiitis, and IgG4-related disease. The HP case evaluation is extensive and includes central nervous system imaging, cerebrospinal fluid analysis, serology, rheumatologic tests, and systemic survey for other manifestations sites. After systemic investigation, meningeal biopsy might be necessary. Etiology guides HP treatment, and autoimmune disorders are treated with corticosteroids alone or associated with an immunosuppressor. Conclusion: HP is a manifestation of several diseases, and a precise etiological diagnosis is crucial because of the difference among treatments. An extensive investigation of patients with HP helps early diagnosis and correct treatment.

RESUMO Importância: Paquimeningite hipertrófica (PH) é uma manifestação não usual de doenças reumatológicas, infecciosas e neoplásicas. O diagnóstico etiológico por vezes é um desafio, entretanto quando realizado em tempo cria uma janela de tratamento com a possibilidade de reversão total dos sintomas. Observações: A PH é um processo inflamatório da dura-máter que pode ocorrer como manifestação da sarcoidose, granulomatose com poliangeíte e doença relacionada à IgG4. A avaliação dos casos de PH é extensa e inclui imagem do sistema nervoso central, análise de líquor, sorologias, provas reumatológicas e rastreio sistêmico para doença em outros sítios. Por vezes, após toda a investigação sistêmica, a biópsia de meninge é necessária. A etiologia orienta o tratamento da HP, sendo que em doenças autoimunes adota-se o uso de corticosteroides isolados ou associados a um imunossupressor. Conclusão e Relevância: A PH é uma manifestação de várias doenças, e seu diagnóstico etiológico preciso é fundamental, visto a diferença entre os possíveis tratamentos. Uma investigação ampla nos casos de PH ajuda no diagnóstico precoce e tratamento adequado.