Síndrome de Brown-Séquard como forma de presentación de mielitis transversa idiopática / Brown-Séquard syndrome as a presentation of idiopathic transverse myelitis

El síndrome de Brown-Séquard es el conjunto de signos y síntomas causado por hemisección medular de diversos orígenes. Puede generarse por múltiples causas; las traumáticas son las más frecuentes. Las causas menos frecuentes son patología inflamatoria, isquémica, tumoral o infecciosa. Se presenta un niño de 12 años, con instauración aguda y progresiva de un síndrome de hemisección medular derecho, con parálisis hipo/arrefléctica homolateral y afectación de sensibilidad termoalgésica contralateral. En la resonancia magnética de médula espinal, se observó compromiso inflamatorio en hemimédula derecha a nivel de segunda y tercera vértebras torácicas. Con diagnóstico de mielitis transversa idiopática, inició tratamiento con corticoide intravenoso a altas dosis con evolución clínica favorable y restitución de las funciones neurológicas.

Brown-Séquard syndrome refers to a set of signs and symptoms caused by hemisection of the spinal cord from various sources. It may have multiple causes; traumatic injuries are the most frequent ones. The less common causes include inflammation, ischemia, tumors, or infections. This report is about a 12-year-old boy with an acute and progressive course of right hemisection of the spinal cord, with ipsilateral hypo/areflexic paralysis and contralateral loss of thermalgesic sensation. The MRI of the spinal cord showed inflammation in the right side of the spinal cord at the level of the second and third thoracic vertebrae. The patient was diagnosed with idiopathic transverse myelitis and was started on intravenous high-dose corticosteroids; he showed a favorable clinical course and recovered neurological functions.

Encefalomielite aguda disseminada com provável etiologia de Bartonella henselae / Acute disseminated encephalomyelitis with probable Bartonella henselae etiology

RESUMO A encefalomielite aguda disseminada é uma doença rara, aguda, inflamatória e desmielinizante do sistema nervoso central, presumivelmente associada, em mais de três quartos dos casos, a infecções (virais, bacterianas ou inespecíficas) e imunizações ou sem qualquer antecedente indentificável. Habitualmente, apresenta um curso monofásico com início de sintomas inespecíficos na fase prodrómica, podendo evoluir com alterações neurológicas multifocais e até à perda total da acuidade visual. Descrevemos o caso de um menino de 9 anos com quadro inicial de edema de papila causado por encefalomielite aguda disseminada devido a Bartonella henselae. Apesar da gravidade da doença, o diagnóstico e o tratamento precoce proporcionaram bons desfechos.

ABSTRACT Acute disseminated encephalomyelitis is a rare, acute, inflammatory, and demyelinating disease of the central nervous system. Presumably associated in more than three quarters of cases by infections (viral, bacterial, or nonspecific) and immunizations or without any identifiable antecedent. It usually presents a monophasic course with onset of nonspecific symptoms in the prodromal phase and may evolve with multifocal neurological changes and even visual acuity loss. We describe a case of a 9-year-old boy with an initial picture of papillary edema caused by acute disseminated encephalomyelitis due to Bartonella henselae. Despite the severity of the disease, early diagnosis and treatment provided good outcomes.

Alucinosis peduncular en esclerosis múltiple, síntoma poco común en la expresión de enfermedad desmielinizante

Introducción: La alucinosis peduncular (AP) hace referencia a alucinaciones autodiscriminadas, cuyo origen son lesiones en el mesencéfalo y en el puente. Presentación del caso: Paciente 27 años, femenina, con alucinaciones visuales, auditivas autodiscriminadas por ella misma, sin antecedentes previos de importancia y con lesiones en resonancia magnética cerebral y cervical en el pedúnculo cerebeloso superior, tegmento pontino, y en columna cervical con bandas oligoclonales patrón 2, que cumplían criterios de Mc Donalds para esclerosis múltiple. Discusión: La alucinosis peduncular hace referencia a la presencia de alucinaciones visuales, criticadas por el paciente, con la consecuencia de lesiones de las vías inhibitorias por deaferentación y desinhibición mesencéfalotalámicas, y retinogenículo calcarina, descritas como manifestación de múltiples patologías neurológicas como trauma, afectación vascular, tumores y pocos casos de enfermedad desmielinizante, entre otras. Conclusión: La alucinosis peduncular es una forma atípica de presentación de lesiones pontomesencefálicas descritas en varias patologías; se debe tener en cuenta en la localización de la lesión neurológica; se han reportado pocos casos como síntoma de la enfermedad desmielinizante.

Introduction: Peduncular hallucinosis (PA) refers to self-discriminating hallucinations, these are caused by lesions in the midbrain and pons. Presentation of the case: 27-year-old right handed female patient with visual and auditory hallucinations self-discriminated by the patient, with no prior history of importance and with lesions in cerebral and cervical Magnetic Resonance in the superior cerebellar peduncle, pontine tegmentum, and in the cervical spine with pattern 2 oligo clonal bands, which met Mc Donald's criteria for multiple sclerosis. Discussion: Peduncular hallucinosis refers to the presence of visual hallucinations criticized by the patient, consequence of lesions in the inhibitory pathways with deafferentation and disinhibition of the midbrain-thalamic and retinogeniculus-calcarine pathways. Described as a manifestation of multiple neurological pathologies such as trauma, vascular, tumor and few cases of demyelinating among others. Conclusion: Peduncular hallucinosis is an atypical form of presentation of pontomesencephalic lesions described in several pathologies, it must be taken into account when locating the neurological lesion, few cases have been reported as symptom of the demyelinating disease.

Multiple Sclerosis and the Cardiovascular System: an overview from cardiovascular risk and clinical characteristics to treatment / Esclerose múltipla e o sistema cardiovascular: uma visão geral do risco cardiovascular e das características clínicas até o tratamento

Objective: Review the relationship between Multiple Sclerosis (MS) and the cardiovascular (CV) system, as well as the CV manifestations of the disease and the CV complications of treatment. Methods: We performed a non-systematic review of the main databases, with no time limit. Results: People with MS tend to have a different CV risk than the general population, with a higher prevalence of hypertension, hyperlipidemia, overweight, ischemic heart disease, and peripheral and cerebral artery disease. In addition, cardiac alterations can be present in any part of MS patient care. Furthermore, MS treatments are not innocuous for the CV system and require attention, especially considering fingolimod and mitoxantrone. Discussion: The findings could partially explain the higher mortality rates found in this population. Furthermore, at the onset, dysautonomia symptoms, like postural orthostatic tachycardia syndrome, can be used as a clinical marker of patients at higher risk to evolve from clinically isolated syndrome to MS. Finally, MS not only progress badly when associated with CV risk factors but are also at increased risk of CV morbidity and mortality. Conclusion: Physicians addressing MS patients should be aware of their increased cardiovascular risk and the impact that adequate control of these factors can have on disease progression, patient lifespan, and global care.

Objetivo: Analisar a relação entre a esclerose múltipla (EM) e o sistema cardiovascular (CV), bem como as manifestações CV da doença e as complicações CV do tratamento. Métodos: Foi realizada uma revisão não sistemática das principais bases de dados, sem limite de tempo. Resultados: Pessoas com EM tendem a ter um risco CV diferente da população em geral, com maior prevalência de hipertensão, hiperlipidemia, sobrepeso, cardiopatia isquêmica e doença arterial periférica e cerebral. Além disso, as alterações cardíacas podem estar presentes em qualquer parte do tratamento do paciente com EM. Além disso, os tratamentos da EM não são inócuos para o sistema CV e requerem atenção, especialmente considerando o fingolimod e a mitoxantrona. Discussão: Os achados podem explicar parcialmente as taxas de mortalidade mais altas encontradas nessa população. Além disso, no início, os sintomas de disautonomia, como a síndrome de taquicardia postural ortostática, podem ser usados como um marcador clínico de pacientes com maior risco de evoluir da síndrome clinicamente isolada para a EM. Por fim, a EM não só progride mal quando associada a fatores de risco CV, mas também apresenta um risco maior de morbidade e mortalidade CV. Conclusão: Os médicos que lidam com pacientes com EM devem estar cientes de seu risco cardiovascular aumentado e do impacto que um controle adequado desses fatores pode ter na progressão da doença, no tempo de vida do paciente e nos cuidados globais.

Molecular mimicry between Zika virus and central nervous system inflammatory demyelinating disorders: the role of NS5 Zika virus epitope and PLP autoantigens / Mimetismo molecular entre o vírus Zika e os distúrbios inflamatórios desmielinizantes do sistema nervoso central: o papel do epítopo NS5 do vírus Zika e dos autoantígenos PLP

Abstract Background Evidence indicates a strong link between Zika virus (ZikV) and neurological complications. Acute myelitis, optic neuritis, polyneuropathy, and encephalomyelitis that mimic inflammatory idiopathic demyelination disorders (HDD) after ZikV infection have been reported in Brazil. Objective The present study aims to investigate the possible occurrence of molecular mimicry between ZikV antigens and Multiple Sclerosis (MS) autoantigens, the most frequent HDD of the central nervous system (CNS). Methods A retrospective cohort study with 305 patients admitted due to suspected arbovirus infection in Rio de Janeiro was performed, all subjects were submitted to neurological examination, and a biological sample was collected for serologic and molecular diagnostic. Bioinformatics tools were used to analyze the peptides shared between ZikV antigens and MS autoantigens. Results Of 305 patients, twenty-six were positive for ZikV and 4 presented IDD patterns found in MS cases. Sequence homology comparisons by bioinformatics approach between NS5 ZikV and PLP MS protein revealed a homology of 5/6 consecutive amino acids (CSSVPV/CSAVPV) with 83% identity, deducing a molecular mimicry. Analysis of the 3D structures revealed a similar conformation with alpha helix presentation. Conclusions Molecular mimicry between NS5 Zika virus antigen and PLP MS autoantigens emerge as a possible mechanism for IDD spectrum in genetically susceptible individuals.

Resumo Antecedentes Evidências indicam uma forte ligação entre o vírus Zika (ZikV) e complicações neurológicas. Mielite aguda, neurite óptica, polineuropatia e encefalomielite que mimetizam distúrbios inflamatórios de desmielinização idiopáticos (DDII) após infecção por ZikV têm sido relatadas no Brasil. Obejtivo O presente estudo tem como objetivo investigar a possível ocorrência de mimetismo molecular entre antígenos do ZikV e autoantígenos da Esclerose Múltipla (EM), a DDII mais frequente do sistema nervoso central (SNC). Métodos Foi realizado um estudo de coorte retrospectivo com 305 pacientes internados por suspeita de infecção por arbovirus no Rio de Janeiro, todos os indivíduos foram submetidos a exame neurológico e coleta de amostra biológica para diagnóstico sorológico e molecular. Ferramentas de bioinformática foram usadas para analisar os peptídeos compartilhados entre antígenos do ZikV e autoantígenos da EM. Resultados Dos 305 pacientes, vinte e seis foram positivos para ZikV e 4 apresentaram padrão IDD encontrado em casos de EM. As comparações de homologia de sequência por abordagem de bioinformática entre a proteína NS5 ZikV e PLP EM revelaram uma homologia de 5/6 aminoácidos consecutivos (CSSVPV/CSAVPV) com 83% de identidade, deduzindo um mimetismo molecular. A análise das estruturas 3D revelou uma conformação semelhante com apresentação em alfa-hélice. Conclusões O mimetismo molecular entre o antígeno NS5 do vírus Zika e o autoantígeno PLP da EM surge como um possível mecanismo para o espectro IDD em indivíduos geneticamente suscetíveis.

The clinical-radiological paradox in multiple sclerosis: myth or truth? / O paradoxo clínico radiológico na esclerose múltipla: mito ou verdade?

Abstract Background Multiple sclerosis (MS) is an inflammatory, degenerative, demyelinating disease that ranges from benign to rapidly progressive forms. A striking characteristic of the disease is the clinical-radiological paradox. Objectives The present study was conducted to determine whether, in our cohort, the clinical-radiological paradox exists and whether lesion location is related to clinical disability in patients with MS. Methods Retrospective data from 95 patients with MS (60 women and 35 men) treated at a single center were examined. One head-and-spine magnetic resonance imaging (MRI) examination from each patient was selected randomly, and two independent observers calculated lesion loads (LLs) on T2/fluid attenuation inversion recovery sequences manually, considering the whole brain and four separate regions (periventricular, juxtacortical, posterior fossa, and spinal cord). The LLs were compared with the degree of disability, measured by the Kurtzke Expanded Disability Status Scale (EDSS), at the time of MRI examination in the whole cohort and in patients with relapsing-remitting (RR), primarily progressive, and secondarily progressive MS. Results High LLs correlated with high EDSS scores in the whole cohort (r = 0.34; p< 0.01) and in the RRMS group (r = 0.27; p= 0.02). The EDSS score correlated with high regional LLs in the posterior fossa (r = 0.31; p= 0.002) and spinal cord (r = 0.35; p= 0.001). Conclusions Our results indicate that the clinical-radiological paradox is a myth and support the logical connection between lesion location and neurological repercussion.

Resumo Antecedentes A esclerose múltipla (EM) é uma doença inflamatória, degenerativa e desmielinizante que varia de formas benignas a rapidamente progressivas. Uma característica marcante da doença é o paradoxo clínico-radiológico. Objetivos O presente estudo foi realizado para determinar, se na nossa amostragem, o paradoxo clínico-radiológico existe e se a localização das lesões está relacionada à incapacidade clínica em pacientes com EM. Métodos Foram examinados retrospectivamente dados de 95 pacientes com EM (60 mulheres e 35 homens) atendidos em um único centro. Um exame de ressonância magnética de cada paciente foi selecionado aleatoriamente, e dois observadores independentes calcularam as cargas lesionais (CLs) em sequências T2 e FLAIR manualmente, considerando todo o cérebro e quatro regiões separadamente (periventricular, justacortical, fossa posterior e medula espinhal). As CLs foram comparadas com o grau de incapacidade, medido pela Escala de Status expandido de incapacidade (EDSS, na sigla em inglês) de Kurtzke, no momento do exame de ressonância magnética (RM) em toda a coorte e em pacientes com as formas surto remissão (SR), primariamente progressiva (PP), e secundariamente progressiva (SP) da EM. Resultados Cargas lesionais elevadas foram correlacionadas com altos índices de EDSS considerando toda a coorte (r = 0.34; p< 0.01) e no grupo SR (r = 0.27; p= 0.02). O EDSS foi correlacionado com CLs altas na fossa posterior (r = 0.31; p= 0.002) e na medula (r = 0.35; p= 0.001). Conclusões Nossos resultados indicam que o paradoxo clínico-radiológico é um mito e apoiam a conexão lógica entre a localização da lesão e a repercussão neurológica.

Combined central and peripheral demyelination after varicella-zoster virus infection: a case report / 中华神经科杂志

Combined central and peripheral demyelination (CCPD) is a rare autoimmune disease and its action mechanism remains unknown. This article described a case of CCPD with anti-neurofascin 155 IgG4 antibodies after varicella-zoster virus (VZV) infection who was recovered after steroids and intravenous immunoglobulin treatments. The clinical characteristics of this patient were summarized and the possible pathogenesis was discussed, so as to provide information of CCPD after VZV infection for clinicians.

Anti-neurofascin 186 antibody associated acute immune sensory polyradiculopathy: a case report and review of literature / 中华神经科杂志

Objective:To describe the clinical features of a patient of anti-neurofascin 186 (NF186) antibody associated acute immune sensory polyradiculopathy (AISP), and enhance understanding of AISP/chronic immune sensory polyradiculopathy (CISP).Methods:The clinical characteristics, diagnosis and treatment of a domestic AISP patient with NF186 antibody positive admitted to the First Hospital of Shanxi Medical University in December 2021 were summarized, and the previously reported cases of AISP/CISP were systematically reviewed.Results:The patient was a 62-year-old male with acute onset. The clinical manifestations included severe sensory ataxia, increased protein in cerebrospinal fluid, no response to stimulation of the central segment of somatosensory evoked potentials (SEP), normal sensory and motor nerve conduction, and positive serum anti-NF186 antibody (1∶32). After glucocorticoid treatment, the clinical symptoms and SEP were significantly improved. The drug was stopped for 2 months, and there was no recurrence. There were 23 cases of AISP and CISP with complete data reported in the literature (including this patient). The age of onset was (54.7±17.7) years, and the ratio of male to female was 1.88. Three patients with acute onset were classified as AISP. A total of 95.7% (22/23) of patients showed sensory ataxia without limb weakness, 95.0% (19/20) of patients showed prolonged cortical potential latency or even no response, and 95.5% (21/22) of patients showed increased cerebrospinal fluid protein in varying degrees, and nerve root thickening or abnormal enhancement was not common. All 10 patients receiving immunotherapy responded to corticosteroids or intravenous immune globulin. Only 6 AISP/CISP articles reported screening for anti-ganglioside antibodies or Ranvier′s node-paranodal region-related antibodies, and no positive NF186 antibodies were reported. All the 3 patients with AISP had some characteristics of CISP/chronic inflammatory demyelinating polyradiculoneuropathy, and there was no significant difference between AISP and CISP patients in clinical features except the mode of onset.Conclusions:NF186 antibody could cause AISP, which presents as acute onset sensory ataxia. AISP is responsive to glucocorticoid therapy. Except for the mode of onset, AISP and CISP are difficult to distinguish from clinical, electrophysiological, pathological aspects and pathogenic antibodies, so they may be two different manifestations of the same disease.

Esclerose múltipla: aspectos clínicos e epidemiológicos em uma cidade do interior da Amazônia / Multiple sclerosis: clinical and epidemiological aspects in an interior of the Amazon city

Introdução: A esclerose múltipla (EM) é uma inflamação crônica imunomediada do sistema nervoso central (SNC) caracterizada por diferentes graus de incapacidades físicas e cognitivas. Objetivos: Descrever o perfil clínico e epidemiológico da EM na região Oeste do Pará no período de 2005 a 2019 e verificar a progressão da doença, o grau de debilidade através da Escala Expandida do Estado de Incapacidade (EDSS) e a resposta ao tratamento. Métodos: Estudo quantitativo-descritivo, baseado na pesquisa e revisão de prontuários de pacientes portadores de EM. Participaram da pesquisa 19 pessoas. Resultados: Os sinais e sintomas mais prevalentes foram alteração na marcha, neurite óptica, oftalmoplegia e associação com quadro depressivo. A forma de evolução clínica mais frequente foi a remitente-recorrente. Análise liquórica revelou presença de bandas oligoclonais em 16 (84,2%) pacientes. A ressonância nuclear magnética de crânio evidenciou múltiplas lesões em 12 (63,2%) dos portadores de esclerose múltipla. Em relação à terapia medicamentosa, o Interferon e o Glatirâmer recebem destaque por serem os mais utilizados no tratamento desses pacientes. Em relação à avaliação da EDSS, observou-se que quase 50% dos pacientes obtiveram melhora, enquanto pouco mais de 10% evoluíram com piora neurológica devido a falta ou ineficácia da medicação. A média do tempo de seguimento após o diagnóstico foi de 4,4 anos. Conclusão: Os resultados neste estudo mostram um panorama semelhante ao comparar a realidade da região Oeste do Pará com outras regiões do país no âmbito do diagnóstico da Esclerose Múltipla.

Introduction: Multiple sclerosis (MS) is a chronic, immunemediated inflammation of the central nervous system (CNS) characterized by different degrees of physical and cognitive disabilities. Objectives: To describe the clinical and epidemiological profile of MS in the western region of Pará in the period of 2005 to 2019 and verify the progression of the disease, the degree of debility using the Expanded Disability State Scale (EDSS) and the response to treatment. Methods: Quantitative-descriptive study, based on research and review of medical records of patients with MS. 19 people participated in the survey. Results: The most prevalent signs and symptoms were changes in gait, optic neuritis, ophthalmoplegia and association with depression. The most frequent form of clinical evolution was relapsing-remitting. CSF analysis revealed the presence of oligoclonal bands in 16 (84.2%) patients. Cranial magnetic resonance imaging showed multiple lesions in 12 (63.2%) patients with multiple sclerosis. Regarding drug therapy, Interferon and Glatiramer are highlighted because they are the most used in the treatment of these patients. Regarding the EDSS assessment, it was observed that almost 50% of the patients improved, while just over 10% evolved with neurological worsening due to lack or ineffectiveness of medication. The mean follow-up time after diagnosis was 4.4 years, with 31.5% (n=6) above the mean. Conclusion: The results of this study show a similar panorama when comparing the reality of the western region of Pará with other regions of the country in the context of the diagnosis of Multiple Sclerosis.

Alcohol consumption is associated with excessive risk of multiple sclerosis: a meta-analysis observational study

ABSTRACT BACKGROUND: There have been inconsistent results regarding the association between alcohol intake and susceptibility to multiple sclerosis. OBJECTIVE: To assess the potential role of alcohol intake regarding the risk of multiple sclerosis by using a meta-analytic approach. DESIGN AND SETTING: Observational meta-analysis study conducted in a hospital in China. METHODS: The electronic databases of PubMed, EMBASE and the Cochrane library were systematically searched for eligible studies from their inception up to January 2020. The summary odds ratio (OR) with 95% confidence interval (CI) was applied to assess the association between alcohol intake and multiple sclerosis, using a random-effects model. RESULTS: One prospective cohort study and eight case-control studies involving a total of 211,396 subjects and 10,407 cases of multiple sclerosis were selected for the final meta-analysis. From the pooled data, no significant association between alcohol intake and multiple sclerosis risk was found (OR: 0.94; 95% CI: 0.73-1.22; P = 0.668), and this conclusion was judged to be robust. Subgroup analysis found that intake of beer was associated with an increased risk of multiple sclerosis (OR: 1.58; 95% CI: 1.12-2.23; P = 0.010). CONCLUSION: This study found that beer intake could cause an excess risk of multiple sclerosis. Further large-scale prospective studies should be conducted to verify this conclusion.

Leucodistrofia metacromática del adulto: reporte de caso / Adult-onset metachromatic leukodystrophy

RESUMEN INTRODUCCIÓN: La leucodistrofia metacromática (LDM) es una enfermedad poco frecuente que se caracteriza por desmielinización progresiva a nivel del sistema nervioso central y periférico. En la mayoría de los casos, es causada por una actividad deficiente de la enzima arilsulfatasa-A. Pertenece al grupo de las leucodistrofias, que son trastornos hereditarios de la sustancia blanca asociados con una variabilidad fenotípica y una heterogeneidad genética importante. El fenotipo de la LDM suele relacionarse con la edad de presentación, que puede variar desde la infancia hasta la adultez. Cuando se presenta en la edad adulta, puede debutar con manifestaciones neuropsiquiátricas, lo que lleva con frecuencia a diagnósticos erróneos. REPORTE DE CASO: Se presenta el caso de una paciente adulta que debutó con un cuadro clínico caracterizado por cambios comportamentales progresivos, con posterior inicio de manifestaciones clínicas motoras. El diagnóstico de LDM se sospechó a partir de la clínica y los hallazgos típicos en la resonancia magnética (RM) cerebral, y se confirmó con la detección de actividad deficiente de la arilsulfatasa-A (ARSA) y la secuenciación del gen ARSA que confirmó la mutación en estado homocigoto, compatible con este diagnóstico. DISCUSIÓN: Destacamos en este caso la importancia de la sospecha clínica, el reconocimiento temprano y el manejo multidisciplinario como factores pronósticos del curso de la enfermedad, ya que en la actualidad no hay tratamiento definitivo para la enfermedad.

ABSTRACT INTRODUCTION: Metachromatic leukodystrophy (MLD) is an infrequent disease characterized by progressive demyelination of the central and peripheral nervous system. In most cases, it is caused by deficient activity of arylsulfatase-A. It belongs to the group of leukodystrophies, which are inherited white matter disorders that can be associated with significant phenotypic variability and genetic heterogeneity. The phenotype in MLD is usually related to the age of onset, which can vary from childhood to adulthood. Adult-onset MLD can debut with neuropsychiatry symptoms, which can often lead to misdiagnosis. CASE REPORT: We report the case of an adult female patient who presented with progressive behavioral changes, followed by motor manifestations. MLD was initially suspected based on the clinical presentation and the characteristic findings on brain magnetic resonance imaging (MRI), with subsequent confirmation by detection of deficient arylsulfatase-A (ARSA) activity and ARSA gene sequencing, which demonstrated homozygosity, compatible with this diagnosis. DISCUSSION: We highlight the importance of clinical suspicion, early recognition and multidisciplinary management as a prognostic factor for the course of the disease, since there is currently no definitive treatment for the disease.

Guillain-Barré syndrome in a COVID-19 patient / Síndrome de Guillain-Barré en paciente con COVID-19

Abstract Coronavirus type 2 is a P-coronavirus whose infection is characterized by a predominantly respiratory clinical picture. However, neurological symptoms are garnering great interest related to pulmonary infection and direct viral invasion of the central nervous system, with a possible association between Guillain-Barré syndrome and SARS-CoV-2 infection. This report describes this relationship in a 44-year-old female patient with classical Guillain-Barré syndrome signs and symptoms on admission, and respiratory signs and symptoms six days prior to the onset of neurological symptoms. There were positive SARS-CoV IgG and IgM blood tests and an epidemiological link of direct contact with people infected with SARS-CoV-2. She required ICU care due to the risk of respiratory failure, along with immunoglobulin treatment, but did not need mechanical ventilation; she improved and was discharged. One month later she consulted again and was thought to have had a Guillain-Barré relapse. She was hospitalized and treated until she progressed and her symptoms resolved. (Acta Med Colomb 2022; 47. DOI:https://doi.org/10.36104/amc.2022.2204).

Resumen El coronavirus tipo 2 es un P-coronavirus cuya infección se caracteriza por clínica de predominio respiratorio; sin embargo, la sintomatologia neurológica está cobrando gran interés asociada a la infección pulmonar e invasión directa del virus al sistema nervioso central. Siendo posible la aso ciación entre el síndrome de Guillain-Barré y la infección por virus SARS-CoV-2. En este reporte se describe dicha asociación en una paciente femenina de 44 años de edad, con clínica clásica de síndrome de Guillain-Barré al ingreso y clínica respiratoria seis días previos a la instalación de los síntomas neurológicos. Reportándose serologías IgG e IgM para SARS-CoV-positivas y nexo epidemiológico de contacto directo con personas infectadas por SARS-CoV-2. Requirió manejo en UCI por riesgo de falla respiratoria, manejo con inmunoglobulinas, sin requerimiento de ventilación mecánica, presentando mejoría y otorgándose salida. Un mes después reconsulta, se considera recaída de Guillain-Barré, se hospitaliza, se inicia manejo hasta evolución y resolución de síntomas. (Acta Med Colomb 2022; 47. DOI:https://doi.org/10.36104/amc.2022.2204).

Challenges and insights in immunization in patients with demyelinating diseases: a bench-to-bedside and evidence-based review / Desafios e insights na imunização de pacientes com doenças desmielinizantes: uma revisão da bancada à beira leito e baseada em evidências

ABSTRACT Background: Infections are among the main causes of death in patients with demyelinating diseases of the central nervous system (CNSDD). Vaccines are effective methods in reducing hospitalization and death from infectious diseases, but they are challenging in patients with CNSDD because of autoimmunity and immunosuppression. Objectives: To summarize the pathophysiological rationale and main evidence for vaccine recommendations in patients with CNSDD. Methods: Specialists with different backgrounds on the subject: a neurologist specialized in demyelinating diseases, an infectious diseases specialist and an immunologist, presented a critical narrative review of vaccination literature in patients with CNSDD, highlighting which vaccines should or should not be administered and the best time for it. Results: Patients with DDSNC are at increased risk of vaccine-preventable viral and bacterial infections. Vaccines can prevent herpes zoster, hepatitis B reactivation, HPV-associated warts and tumors, viral and bacterial pneumonia, and meningitis. Live attenuated virus vaccines should not be used when the patient is on immunosuppression. Vaccines should be avoided during relapses. The greatest vaccine efficacy is given before treatment or at the end of medication. Conclusion: Patients with DDSNC need differentiated immunization in relation to additional vaccines, contraindicated vaccines and timing of vaccination.

RESUMO Antecedentes: Infecções estão entre as principais causas de morte de pacientes com doenças desmielinizantes do sistema nervoso central (DDSNC). Vacinas são métodos eficazes para reduzir internação e morte por doenças infecciosas, porém são desafiadoras em pacientes com DDSNC tanto pela autoimunidade quanto pela imunossupressão. Objetivos: Resumir o racional fisiopatológico e as principais evidências para as recomendações de vacinas em pacientes com DDSNC. Métodos: Especialistas com diferentes formações no tema: um neurologista especialista em doenças desmielinizantes, um infectologista e um imunologista, apresentam uma revisão crítica narrativa da Literatura de vacinação em pacientes com DDSNC, com destaque a quais vacinas devem ou não ser administradas e o melhor momento para isso. Resultados: Pacientes com DDSNC têm risco aumentado para infecções imunopreveníveis virais e bacterianas. Vacinas podem prevenir herpes zooster, reativação de hepatite B, verrugas e tumores associados ao HPV, pneumonias virais e bacterianas, além de meningites. Vacinas de vírus vivos atenuados não devem ser usadas quando o paciente está em uso de imunossupressão. Vacinas devem ser evitadas durante surtos. A maior eficácia vacinal é dada antes do tratamento ou ao final de doses de medicações. Conclusão: Os pacientes com DDSNC necessitam de imunização diferenciada em relação a vacinas adicionais, vacinas contraindicadas e melhor momento de vacinação.

Enfermedades desmielinizantes: leucodistrofia metacromática y esclerosis múltiple, a propósito de un caso / Demyelinating diseases: metachromatic leukodystrophy and multiple sclerosis, a case study

RESUMEN Las enfermedades desmielinizantes son entidades poco frecuentes en la edad pediátrica; tal es el caso de la esclerosis múltiple y la leucodistrofia metacromática, en las cuales intervienen factores genéticos y ambientales, y ambas afectan diferentes estructuras del sistema nervioso central, los nervios, los músculos, otros órganos y el comportamiento del individuo. Son afecciones que tiene una evolución progresiva al deterioro neuromuscular: en poco tiempo el paciente entra en un estado neurovegetativo con pérdida de la conciencia, por lo que requieren de atención médica y de enfermería especializada. El propósito de este estudio es presentar un caso de leucodistrofia metacromática, haciendo referencia a su complejo diagnóstico diferencial con la esclerosis múltiple y la aplicación del proceso de enfermería. Paciente masculino de 6 años de edad con antecedentes con antecedentes de diversos episodios de infecciones respiratorias y atelectasias, así como estadía prolongada en unidades de cuidados intensivos. Otros síntomas fueron hipotonía muscular, ausencia de reflejos tendinosos y trastornos audiovisuales. A la edad de 6 años el paciente había perdido todo contacto con el medio, sufrió tetraparesia y frecuentes episodios de convulsiones tónicas. A pesar de los intensos tratamientos y seguimientos en diferentes consultas, falleció a los 6 años de edad por complicaciones respiratorias.

ABSTRACT Demyelinating diseases are infrequent entities in pediatric age; such is the case of metachromatic leukodystrophy and multiple sclerosis, in which genetic and environmental factors take action. both of them affect different structures of the central nervous system, nerves, muscles, organs and individual behavior. These affections have a progressive evolution of the neuromuscular deterioration: soon the patient enters a neurovegetative state with loss of consciousness. Therefore, medical attention and specialized nursing is required. The purpose of this study is to present a case of metachromatic leukodystrophy referring to its complex differential diagnosis with multiple sclerosis and nursing process application. A 6-year-old male patient with record of several respiratory infections and atelectasis, such as extended stay at the intensive care unit. Some other symptoms were muscle hypotonia, lack of tendinous reflexes, and audiovisual disorder. At the age of 6 the patient had lost all contact with the environment, suffered from tetra paresis and frequent tonic seizure episodes. Despite the intense treatments and the follow-ups in several medical consultations, the patient passed away at the age of 6 due to respiratory complications.

Concurrencia entre el síndrome de Guillain-Barré y púrpura trombocitopénica inmune posiblemente inducidos por COVID-19 prolongado / Concurrence between Guillain-Barré syndrome and immune thrombocytopenic purpura possibly induced by long COVID-19

RESUMEN Durante la infección aguda por el SARVS-CoV-2 se produce una desregulación del sistema inmune que puede durar hasta ocho meses después de controlado el cuadro agudo. Esto, sumado a otros factores, posiblemente este asociado con un aumento del riesgo de aparición y concurrencia de enfermedades autoinmunes. La aparición simultanea del síndrome de Guillain-Barré (SGB) y púrpura trombocitopénica (PTI) se ha reportado poco en la literatura, y el SGB raramente se asocia con otra enfermedad autoinmune. Presentamos el caso de un varón que luego de un mes de tener un cuadro agudo de COVID-19 moderado, presentó concurrentemente SGB y PTI con respuesta adecuada al tratamiento.

ABSTRACT During acute SARS-CoV-2 infection, there is persistent deregulation of the immune system that can last up to 8 months after the acute condition is controlled. This, added to other factors, is possibly associated with an increased risk of the appearance and concurrence of autoimmune diseases. The simultaneous occurrence of GBS and ITP has been rarely reported in the literature, and GBS is rarely associated with another autoimmune disease. We present the case of a man who, one month after his recovery from acute moderate COVID-19, presented concurrent GBS and ITP with an adequate response to treatment.

Leucoencefalopatía multifocal progresiva, manifestación inicial en paciente con VIH

RESUMEN La leucoencefalopatía multifocal progresiva es una enfermedad desmielinizante del sistema nervioso central producido por un virus del género Polyomavirus. Las manifestaciones clínicas pueden ser motoras, sensitivas o cognitivas. Se presenta el caso de un paciente masculino de 32 años de edad con un cuadro de 24 horas de evolución de debilidad de miembro superior e inferior izquierdos que inició de manera insidiosa y progresiva, acompañada de disartria y confusión. Por sospecha de vasculitis cerebral versus enfermedad desmielinizante se inicia bolos de corticoides con lo cual mejora la debilidad. Se solicita estudios de laboratorio en la que se confirma sida. La resonancia magnética con Gadolinio en el que se observa lesiones compatibles con leucoencefalopatía multifocal progresiva. Se inicia tratamiento antirretroviral y es dado de alta sin otras complicaciones.

ABSTRACT Progressive multifocal leukoencephalopathy is a demyelinating disease of the central nervous system caused by a virus of the Polyomavirus genus. The clinical manifestations can be motor, sensory or cognitive. We present the case of a 32-year-old male patient with a 24-hour evolution of weakness in the left upper and lower limb that began insidiously and progressively, accompanied by dysarthria and confusion. Due to suspicion of cerebral vasculitis versus demyelinating disease, corticosteroid boluses are started, which improves weakness. Laboratory studies are requested in which AIDS is confirmed. Gadolinium magnetic resonance imaging shows lesions compatible with progressive multifocal leukoencephalopathy. Antiretroviral treatment is started and he is discharged without other complications.

Magnetic resonance imaging of the cranial nerves in infectious, neoplastic, and demyelinating diseases, as well as other inflammatory diseases: a pictorial essay / Ressonância magnética dos nervos cranianos em doenças infecciosas, neoplásicas, desmielinizantes e outras doenças inflamatórias: ensaio iconografico

Abstract The cranial nerves, which represent extensions of the functional structures of the brain, traverse the head and neck. They are connected to various cranial structures and are associated with several diseases. An in-depth understanding of their complex anatomy and normal imaging appearance allows the examiner to identify and characterize abnormalities with greater precision. One important tool for evaluating the cranial nerves is contrast-enhanced magnetic resonance imaging, especially that employing three-dimensional steady-state free precession sequences, which provide high soft-tissue and spatial resolution, despite the slen-derness of the nerves. In most cases of cranial nerve abnormalities, the imaging findings are nonspecific. Therefore, to narrow the differential diagnosis, it is necessary to take a full patient history, perform a focused physical examination, and order laboratory tests. In this pictorial essay, we review, illustrate, and discuss, from a pathophysiological perspective, infectious, neoplastic, and demyelinating disorders, as well as other inflammatory disorders, affecting the cranial nerves, the aim being to provide a practical, tangible reference for radiologists to use in daily practice.

RESUMO Os nervos cranianos, que representam extensões das estruturas funcionais do cérebro, atravessam a cabeça e o pescoço. Eles estão conectados a várias estruturas cranianas e estão associados a várias doenças. Uma compreensão profunda de sua complexa anatomia e aparência normal por imagem permite ao examinador identificar e caracterizar as anormalidades com maior precisão. Uma ferramenta importante para avaliar os nervos cranianos é a ressonância magnética com contraste, especialmente as sequências tridimensionais steady-state free precession, que proporcionam alta resolução espacial e de partes moles, apesar da fina espessura dos nervos. Na maioria dos casos, os achados radiológicos não são específicos. Para estreitar o diagnóstico diferencial é necessário fazer uma anamnese completa do paciente, realizar um exame físico dirigido e solicitar testes laboratoriais. Neste ensaio iconográfico revisamos, ilustramos e discutimos, sob uma perspectiva fisiopatológica, os distúrbios infecciosos, neoplásicos, inflamatórios e desmielinizantes, visando a ser uma referência prática e tangível para a prática diária dos radiologistas.

Potential biomarkers for the diagnosis and differential diagnosis of immune-mediated demyelinating diseases screened by tandem mass spectrometry technology / 中华检验医学杂志

Objective:To screen the potential biomarkers for the diagnosis and differential diagnosis of immune-mediated demyelinating diseases by tandem mass tags (TMT) and liquid chromatography-tandem mass spectrometry (LC-MS/MS) technology.Methods:Twenty patients with demyelinating diseases (demyelinating group) and 10 patients with noninflammatory neurological diseases (NND group) from Beijing Tiantan Hospital affiliated to Capital Medical University from January 2020 to January 2021 were enrolled in this study. The demyelinating group included 10 patients with Guillain-Barre syndrome (GBS subgroup) and 10 patients with multiple sclerosis (MS subgroup). TMT proteomics was used to screen out the different protein expression patterns between the demyelinating group and the NND group and between the GBS subgroup and the MS subgroup (difference>2 or<0.5 and with statistical significance), and String database was used to perform gene ontology (GO) analysis and Kyoto encyclopedia of gene and genomes (KEGG) analysis on the pathways involved in the differently expressed proteins between the groups. In addition, 80 demyelinating patients (demyelinating diseases validation group) and 40 healthy subjects (healthy control group) were selected for retrospective analysis of general lipid indexes. The demyelinating diseases validation group included 40 GBS patients (GBS validation group) and 40 MS patients (MS validation group). Receiver operating characteristic (ROC) curve was obtained to evaluate the value of general lipid indexes for the diagnosis of demyelinating diseases and the differential diagnosis between GBS and MS groups.Results:A total of 362 proteins were detected by TMT proteomics. There were 101 differentially expressed proteins between the demyelinating group and the NND group, and 45 differentially expressed proteins between the GBS group and the MS group. Compared with the NND group, GO enrichment analysis showed that the top five enrichment pathways in the demyelinating group were macrophage colony stimulating factor and receptor complex, negative regulation of cholesterol input, negative regulation of very low density lipoprotein particle clearance, triglyceride-rich lipoprotein particle remodeling, and cholesterol reverse transport. Compared with MS group, the top five enriched pathways in GBS group were high-density lipoprotein particle receptor binding, negative regulation of very low density lipoprotein particle remodeling, negative regulation of cholesterol input, negative regulation of very low density lipoprotein particle clearance, and medium density lipoprotein particle. KEGG enrichment analysis results showed that differentially expressed proteins in the demyelinating group and the NND group were enriched in 8 pathways, including phosphatidylinositide 3-kinases-protein kinase B signaling pathway, complement and coagulation cascade reaction, extracellular matrix and its receptor interaction, Staphylococcus aureus infection, cholesterol metabolism, RAS signaling pathway, phagosome, and mitogen-activated protein kinase signaling pathway. Differentially expressed proteins in GBS group and MS group were enriched in 9 pathways: cholesterol metabolism, complement and coagulation cascade, platelet activation, peroxisome proliferators-activated receptors signaling pathway, vitamin digestion and absorption, novel coronavirus infection, fat digestion and absorption, axon guidance, and neutrophil extracellular trap formation pathway. The levels of triglyceride (TG), total cholesterol (TC), low density lipoprotein cholesterol (LDL-C) and apolipoprotein B (apoB) were significantly higher, while high density lipoprotein cholesterol (HDL-C) and apolipoprotein A1 (apoA1) levels were significantly lower in the demyelinating disease validation group than in the healthy control group (all P<0.05 or 0.01). Area under the curve (AUC) of TG, TC, HDL-C, LDL-C, apoA1 and apoB alone or in combination for the diagnosis of immune-mediated demyelinating diseases was 0.746, 0.643, 0.798, 0.703, 0.806, 0.708 and 0.868, respectively. The AUC of HDL-C, apoA1, LDL-C and apoB for differential diagnosis between GBS and MS was 0.692, 0.653, 0.632, 0.695 and 0.718, respectively. Conclusions:There are differences in cerebrospinal fluid proteomics between patients with immune-mediated demyelinating disease and patients with NND, GBS and MS, and the differentially expressed protein patterns mainly exist in the pathways related to lipid metabolism. Lipid related indicators may be used as biomarkers for the diagnosis and differential diagnosis of immune-mediated demyelinating disease.

Neuromyelitis optica spectrum disorders / 中华神经科杂志

Neuromyelitis optica spectrum disorders (NMOSD) is an immune mediated inflammatory demyelinating disease of the central nervous system. Optic neuritis and longitudinally extensive transverse myelitis are the main clinical signs, and the etiology is mainly related to aquaporin 4 (AQP4) antibody. AQP4 is the target antigen of immune attack. NMOSD is characterized by optic neuritis, longitudinally extended transverse myelitis, medulla area postrema syndrome, brainstem syndrome, diencephalic syndrome and cerebral syndrome. In recent years, the etiological mechanism, clinical diagnosis and monoclonal antibodies targeting new mechanisms of NMOSD have made great progress, which promoted the development of clinical neurology.

Adult linear scleroderma with ptosis: a case report and literature review / 中华神经科杂志

Objective:To discuss the clinical features, diagnosis and treatment of linear scleroderma (LS).Methods:A case of LS diagnosed in the Second Hospital of Shandong University in October 20, 2020, was reported and the clinical features and pathological documentation of the disease reported in the literature were reviewed.Results:A 24-year-old woman presented cicatricial alopecia on the left frontoparietal area and facial atrophy for about 10 years. Two years before, she began to suffer ptosis and neurological complaints. Clinical features of different stages of the disease are presented. All 15 patients reported in the literature were analyzed, with a median of 22 years and a male to female ratio of 9∶6. There were 4 cases of linear scleroderma with ipsilateral drooping eyelids and lateral contraction, 3 cases of linear scleroderma with demyelinating lesions, combined with lateral contraction, 3 cases of linear scleroderma combined with lateral atrophy, and 1 case of linear scleroderma with ipsilateral facial spasm. Two cases were with the chest sclerosing spot. Two cases of linear scleroderma were with epileptic seizure and white matter demyelination lesion. Six cases were treated with hormone, 2 cases were treated with methotrexate. One case was treated with both hormone and methotrexate. One case was treated with botulinum toxin. Three cases were treated with surgical correction of eyelid ptosis. One case was treated with ultraviolet A1 radiation phototherapy and 1 case was treated with vitamin therapy.Conclusions:Patients with scleroderma may have ipsilateral facial atrophy, blepharoptosis and facial spasm. Some patients involving the nervous system may have epilepsy and myelitis. And demyelinating lesions can be seen in magnetic resonance imaging. Localized scleroderma may develop into systemic scleroderma. Therefore, it is recommended to combine immunosuppressants as soon as possible to control the development of the disease if necessary.