Una aproximación actualizada hacia el tratamiento de la Esclerosis Múltiple / AN UPDATED APPROACH TO THE TREATMENT OF MULTIPLE SCLEROSIS

La presente es una revisión bibliográfica actualizada sobre el manejo de la Esclerosis Múltiple (EM), enfermedad neurológica progresiva de tipo desmielinizante más frecuente a nivel mundial. En Chile, su presentación remitente-recurrente (RRMS) es patología GES, por lo que se vuelve relevante para el médico general y estudiantes del área de la salud reconocer e identificar las terapias disponibles para el control de esta patología. Si bien la EM no es un cuadro frecuente, su sintomatología es alarmante e incapacitante, por lo que, con frecuencia, el primer acercamiento del paciente es a los servicios de urgencia, tornándose necesario contar con nociones básicas sobre el tratamiento y manejo. La presente revisión recopiló artículos publicados entre 2019 y 2023 de distintos motores de búsqueda con énfasis en el tratamiento farmacológico y no farmacológico de esta enfermedad. Además de describir el tratamiento convencional como la inmunomodulación, las terapias biológicas, el soporte con glucocorticoides y los fármacos remielinizantes, se abordan nuevas líneas de investigación prometedoras, como el rol inmunogénico de la microbiota intestinal, la capacidad epigenética de la dieta, estrategias de rehabilitación cognitiva y el potencial uso de cannabinoides para el manejo paliativo del dolor. Se concluye que un tratamiento oportuno con fármacos modificadores de la enfermedad, tanto de primera línea como de segunda, son imprescindibles para el manejo de la EM, sin embargo, la calidad de vida puede verse significativamente acrecentada por la incorporación de estrategias que se encuentran al alcance del médico general y que no requieren de derivación a nivel secundario.

This is an updated bibliographical review on the management of Multiple Sclerosis (MS), the most common progressive neurological disease of demyelinating disorders worldwide. In Chile, its relapsing-remitting presentation (RRMS) is a state-covered illness pathology, so it becomes relevant for the general practitioner and med students to recognize and identify therapies available for the control of this desease. Although MS is not a frequent condition, its symptoms are alarming and disabling, which is why, frequently, the first approach of the patient is to the emergency services, making it necessary to have basic knowledge about treatment and management. The present review compiled articles published between 2019 and 2023 from different search engines with an emphasis on the pharmacological and non-pharmacological treatment of the MS. In addition to describing conventional treatment such as immunomodulation, biological therapies, glucocorticoid support and remyelinating drugs, new promising lines of research are addressed, such as the immunogenic role of the intestinal microbiota, the epigenetic capacity of the diet, strategies on cognition rehabilitation and the potential use of cannabinoids for the palliative management of pain. It is concluded that the classic treatment with disease-modifying drugs, both first-line and second-line, are essential for the management of MS; however, quality of life can be significantly increased by incorporating strategies found at the reach of the general practitioner and do not require referral at a greater complexity center.

The central vein sign in multiple sclerosis: a biomarker evaluated on a 3T MRI scanner

The central vein sign (CVS) is a promising MRI biomarker in multiple sclerosis (MS). CVS has recently been proposed to improve the accuracy and speed of MS diagnosis. Evidence indicates that the presence of CVS in individual lesions can accurately differentiate MS from other diseases that mimic this condition, such as hypertensive microangiopathy, atypical demyelination, and neuromyelitis optica. Most studies have used 7T MRI scanners, which limits their clinical applicability. Recently, it has been demonstrated that the fusion of the FLAIR and SWI sequences, generating FLAIR*, allows CVS visualization even on 3T scanners. Many studies have confirmed that CVS at 3T is a specific imaging finding for MS. (AU)

Clinical analysis of relapsed demyelinating disease associated with myelin oligodendrocyte glycoprotein antibody in children / 中华实用儿科临床杂志

Objective@#To investigate the clinical characteristics, treatment and prognosis of relapsed demyeli-nating disease (RDD) associated with myelin oligodendrocyte glycoprotein antibodies (MOG abs) children in southern China.@*Methods@#Children with RDD associated with MOG abs at Department of Neurology in Guangzhou Women and Children′s Medical Center from January 2015 to December 2018 were retrospectively analyzed.The annualized relapse rates (ARRs) and expand disability status scale (EDSS) were used to assess the recurrence frequency and neurological dysfunction respectively.@*Results@#Ten children were included with the age of (6.4±3.6) years old, and male to female ratio was 4∶6.(1)Clinical phenotype: all children had 24 episodes during follow-up, with acute disseminated encephalomyelitis (ADEM)(7/10 cases) and neuromyelitis optica spectrum disorders (NMOSD)(3/10 cases) on the first episode.Among 14 recurrent episodes, ADEM (9/14 times) was the most common, followed by optic neuritis(ON)(3/14 times)and brainstem encephalitis (2/14 times). By the final follow-up, the final diagnosis was multiphasic disseminated encephalomyelitis(MDEM)(6/10 cases), NMOSD(3/10 cases), ADEM-ON(1/10 case), respectively.(2)Laboratory examination: all the children had positive serum MOG abs in the acute stage.The serum MOG abs titer high group(≥1∶640)(6 cases)on the first episode complicated ON (3 cases) and long segment myelitis (3 cases) more common than those of low group(1∶320)(4 cases). (3)Imaging changes: 25 times of bain magnetic resonance imaging (MRI) were performed in the acute stage, MRI changes mostly involved the cortex and subcortical white matter.Four cases had abnormal spinal cord MRI.(4)Treatment and prognosis: intravenous methylprednone (IVMP) combined with intravenous immunoglobulin (IVIG) were administrated in acute stage.Rituximab (2/10 cases), mycophenolate mofetil (4/10 cases), IVIG (2/10 cases) monthly and low dose prednisone orally (2/10 cases) were given respectively in maintains stage.ARRs decreased from 1.4 to 0 and EDSS score improved significantly after these treatments above.Seven cases had residual neurological dysfunction with 3 cases of NMOSD, 3 cases of MDEM and 1 case of ADEM-ON, including motor dysfunction, learning disability and inattention, symptomatic epilepsy and visual impairment.@*Conclusions@#ADEM is the most common form of RDD associated with MOG abs in children.Those with high serum MOG abs titer on the first episode are prone to have ON or long segment myelitis.Immunomodification therapy is effective in the relapsed patients, residual neurological sequelae were related to the type of repeated demyelination.

Clinical analysis of relapsed demyelinating disease associated with myelin oligodendrocyte glycoprotein antibody in children / 中华实用儿科临床杂志

Objective To investigate the clinical characteristics,treatment and prognosis of relapsed demyelinating disease (RDD) associated with myelin oligodendrocyte glycoprotein antibodies (MOG abs) children in southern China.Methods Children with RDD associated with MOG abs at Department of Neurology in Guangzhou Women and Children's Medical Center from January 2015 to December 2018 were retrospectively analyzed.The annualized relapse rates (ARRs) and expand disability status scale (EDSS) were used to assess the recurrence frequency and neurological dysfunction respectively.Results Ten children were included with the age of (6.4 ± 3.6) years old,and male to female ratio was 4 ∶ 6.(1)Clinical phenotype:all children had 24 episodes during follow-up,with acute disseminated encephalomyelitis (ADEM)(7/10 cases) and neuromyelitis optica spectrum disorders (NMOSD)(3/10 cases) on the first episode.Among 14 recurrent episodes,ADEM (9/14 times) was the most common,followed by optic neuritis(ON) (3/14 times) and brainstem encephalitis (2/14 times).By the final follow-up,the final diagnosis was multiphasic disseminated encephalomyelitis (MDEM) (6/10 cases),NMOSD (3/10 cases),ADEM-ON (1/10 case),respectively.(2) Laboratory examination:all the children had positive serum MOG abs in the acute stage.The serum MOG abs titer high group(≥1 ∶ 640) (6 cases)on the first episode complicated ON (3 cases) and long segment myelitis (3 cases) more common than those of low group (1 ∶ 320) (4 cases).(3)Imaging changes:25 times of bain magnetic resonance imaging (MRI) were performed in the acute stage,MRI changes mostly involved the cortex and subcortical white matter.Four cases had abnormal spinal cord MRI.(4)Treatment and prognosis:intravenous methylprednone (IVMP) combined with intravenous immunoglobulin (IVIG) were administrated in acute stage.Rituximab (2/10 cases),mycophenolate mofetil (4/10 cases),IVIG (2/10 cases) monthly and low dose prednisone orally (2/10 cases) were given respectively in maintains stage.ARRs decreased from 1.4 to 0 and EDSS score improved significantly after these treatments above.Seven cases had residual neurological dysfunction with 3 cases of NMOSD,3 cases of MDEM and 1 case of ADEM-ON,including motor dysfunction,learning disability and inattention,symptomatic epilepsy and visual impairment.Conclusions ADEM is the most common form of RDD associated with MOG abs in children.Those with high serum MOG abs titer on the first episode are prone to have ON or long segment myelitis.Immunomodification therapy is effective in the relapsed patients,residual neurological sequelae were related to the type of repeated demyelination.

Paroxysmal Ataxia and Dysarthria in a Patient with Demyelinating Disease

Paroxysmal dysarthria and ataxia is characterized by abrupt onset of dysarthria and ataxia of unilateral limbs for seconds. We present a 45-year-old female patient with paroxysmal symptoms of dysarthria, right-sided ataxia, and a persistent symptom of upbeating nystagmus. Her brain fluid attenuated inversion recovery (FLAIR) magnetic resonance imaging indicated potential diagnosis of demyelinating disease. The paroxysmal and persistent symptoms have recovered after phenytoin administration. Sodium channel blocker may play a role in reducing the ephaptic transmission in a demyelinated or re-myelinated lesion.

Acute combined central and peripheral nervous system demyelination: a case report / 고신대학교의과대학학술지

Guillain-Barré syndrome (GBS) and acute disseminated encephalomyelitis (ADEM) are demyelinating neurologic disorders with different target organs. Although they share similar pathogenetic mechanism, reports of simultaneous occurrence of the 2 disorders are rare. A 2 year 6 month old girl visited our hospital for fever, cough, and general weakness. Although the muscle power of extremities showed mild weakness and voiding difficulty, initial deep tendon reflex of both knees and ankles was normal. A nerve conduction study to evaluate the weakness revealed the absence of F waves. Cerebrospinal fluid analysis demonstrated pleocytosis with lymphocyte predominance and elevated protein levels. Magnetic resonance imaging showed abnormal T2 hyperintensity in pons, medulla and spinal cord. Serum anti-GD1b antibody was positive. Based on clinical findings, laboratory findings, nerve conduction study, and neuroimaging, the diagnosis of GBS and ADEM was made. This is the first case of GBS accompanied by ADEM in Korea.

Convulsion, disturbance of consciousness, fever / 中华实用儿科临床杂志

The child was a preschool girl who was admitted for the first time due to " convulsions,disturbance of consciousness and fever for 2 days".The girl was diagnosed as acute disseminated encephalomyelitis (ADEM).After immunotherapy,the girl recovered.During the course of hormone reduction,the cranial magnetic resonance imaging showed aggravated,and neurological symptoms were followed.There was a transient decrease of blood cells.After repeat hormone treatment,the girl was improved again,but the intracranial lesions still showed progressive aggravation tendency.The course of central nervous system demyelinating in this patient was unknown.When her younger sibling prestentd fever,hepatosplenomegaly,blood cell decreased and was diagnosed with familial haemophagocytosis syndrome(FHPS),through case discussion and gene testing,the girl was finally diagnosis "central nervous system involvement at the onset of FHPS".The case suggests unexplained central nervous system demyelinating lesions,regardless of whether there are abnormalities of blood system,should pay attention to haemophagocytosis syndrome.Positive immunotherapy should be given after diagnosis,and stem cell transplantation should be given as soon as possible to improve prognosis.

Desmielinización del sistema nervioso central asociado a encefalomielitis diseminada aguda: Reporte de un caso / Demyelination of central nervous system associated with acute disseminated encephalomyelitis: Case report

Resumen Las enfermedades desmielinizantes inflamatorias comprenden una serie de desórdenes de origen autoinmune que afectan la mielina a nivel del sistema nervioso central (SNC) y periférico. Pueden ser monofásicas, multifásicas, progresivas, monofocales o multifocales, y su diagnóstico suele ser de exclusión. Se presenta el caso de una paciente de 15 años que debuta con cefalea, ataxia, hemiparesia, oftalmoparesia y alteración de la conciencia. En la resonancia magnética nuclear se observaron lesiones compatibles con enfermedad desmielinizante. Se realizó diagnóstico de encefalomielitis diseminada aguda. La paciente respondió favorablemente al tratamiento con corticoides.

Abstract Inflammatory demyelinating diseases comprise a series of autoimmune disorders affecting myelin at the level of the central nervous system (CNS) and peripheral nervous system. They can be monophasic, multiphasic, progressive, monofocal or multifocal, and their diagnosis is usually of exclusion. We report the case of a 15-year-old female patient with headache, ataxia, hemiparesis, ophthalmoplegia and altered consciousness. Magnetic resonance imaging showed lesions compatible with demyelinating disease. Acute disseminated encephalomyelitis was diagnosed. The patient responded to treatment with corticosteroids.

Possível associação entre doença desmielinizante e neoplasias oligodendrogliais: relato de caso / Possible association between demyelinating disease and oligodendroglial tumors: a case report

Desde o primeiro relato de doença desmielinizante associada a tumores cerebrais por Scherer em 1938, inúmeros outros relatos de casos foram publicados fazendo associação desta doença com diferentes tumores primários do sistema nervoso central. Nosso trabalho descreve o caso de uma paciente de 23 anos com duas lesões encefálicas biopsiadas, mostrando inicialmente processo inflamatório desmielinizante que no seguimento desenvolve um oligodendroglioma anaplásico. A partir deste caso, realizamos uma revisão da literatura dessa associação específica, primeiramente publicada por Barnard e Jellinek em 1967, e ressaltamos a importância da diferenciação entre a forma desmielinizante tumefativa de uma neoplasia cerebral verdadeira. (AU)

Since the first report of demyelinating disease associated with brain tumors by Scherer in 1938, several other case reports have been published making association of this disease with different primary tumors of the central nervous system. Our paper describes the case of a 23 year old patient with two brain lesions, biopsied, initially showing a demyelinating inflammatory process that in the follow up develops an anaplastic oligodendroglioma. From this case, we conducted a literature review of this specific association, first published by Barnard and Jellinek in 1967, and emphasize the importance of difference in a tumefactive demyelinating lesions between of true brain neoplasm. (AU)

Metachromatic leukodystrophy. Case presentation / Leucodistrofia metacromática. Presentación de caso

ABSTRACT Metachromatic leukodystrophy (MLD) is a rare demyelinating disease (prevalence 1:40,000), also called arylsulfatase A deficiency (ARS-A), which may present with neurological and psychiatric symptoms. Clinical assessment may be difficult, due to unspecific signs and symptoms. A case is presented of a 16 year-old female patient seen in psychiatry due to behavioural changes, psychosis, and with impaired overall performance. She was ini tially diagnosed with schizophrenia, but the Nuclear Magnetic Resonance (NMR) scan and laboratory tests lead to the diagnosis of MLD.

RESUMEN La leucodistofia metacromática (LDM) es una enfermedad desmielinizante rara (prevalencia, 1:40.000), también llamada deficiencia de arilsulfatasa A (ARS-A), que puede presentarse con síntomas neurológicos y psiquiátricos y cuyo diagnóstico puede plantear dificultades para el clínico, dado lo inespecífico de los signos y síntomas. Se presenta el caso de una paciente de 16 arios atendida por psiquiatría por cambios conductuales, psicosis y deterioro general del funcionamiento. Inicialmente diagnosticada como esquizofrenia, se documentaron por resonancia magnética y pruebas de laboratorio en la evolución cambios que llevaron al diagnóstico de leucodistrofia metacromática.

Acute Combined Central and Peripheral Demyelination in Children: in Comparison with Isolated Demyelinating Disease

PURPOSE: This study aimed to describe the clinical characteristics and outcomes of children with acute combined central and peripheral nervous system demyelination (CCPD); and compare with the children of isolated acute central or peripheral nervous system demyelination. METHODS: A retrospective chart review of 145 children with acute demyelinating disease between 2010 and 2015 was undertaken in children with younger than 18 years old. Among these, 96 fulfilled criteria (clinical features and positive neuroimaging or electromyography/nerve conduction studies) for either acute central (group A, n=60, 62.5%) or peripheral (group B, n=30, 31.3%) nervous system demyelination, or a CCPD (group C, n=6, 6.3%). RESULTS: Significant differences among the groups (A vs B vs C) were evident for occurrence of disease between 2013-2015 (45.0% vs 43.3% vs 83.3%; P=0.024), admission to intensive care unit (8.3% vs 26.7% vs 50.0%; P=0.027), length of hospitalization (median, 9.7 vs 12.3 vs 48.3 days; P<0.001), treatment with steroids (88.3% vs 10.0 vs 100.0%; P=0.003), immunoglobulins (13.3% vs 100.0% vs 100.0%; P=0.002) and plasmapheresis (0.0% vs 3.3% vs 50.0%; P=0.037) and severe disability at discharge (3.3% vs 16.7% vs 33.3%; P=0.012). Children of group C showed good response to simultaneous use of immunoglobulin and high-dose corticosteroids and earlier try of plasmapheresis, however, two patients had moderate degree of neurological disability. CONCLUSION: Systemic studies using neuroimaing and electromyography/nerve conduction studies in all patients with demyelinating disease will be necessary to verify the combined or isolated disease, because CCPD might have the poorer outcome than isolated disease.

Espectro de neuromielitis óptica en Colombia, primera caracterización clínico imagenológica en tres centros de Bogotá / Spectrum of optic neuromyelitis in colombia, first characterization clinical and radiological in three centers of Bogotá

Introducción: La neuromielitis óptica, es un síndrome clínico caracterizado por la asociación de mielitis transversa y neuritis óptica, hoy en día es reconocida como una enfermedad cuya fisiopatología, clínica, hallazgos en imágenes diagnósticas de laboratorio y tratamiento son específicos. Objetivo: describir las características clínicas, métodos diagnósticos y tratamiento de los pacientes con neuromielitis óptica (NMO) en tres centros asistenciales de cuarto nivel de la ciudad de Bogotá. Materiales y métodos: Diseño: se realizó un estudio de tipo serie de casos. Participantes: se incluyeron casos consecutivos de pacientes de cualquier género, entre los 19 y los 48 años, clasificados en dos grupos según los criterios del Consenso Internacional para el Diagnóstico de Neuromielitis óptica 2015, NMOSD con AQP4-IgG positivos, y NMOSD con AQP4-IgG negativos. Los pacientes fueron reclutados en tres centros hospitalarios, desde junio de 2013 a mayo de 2015. Análisis estadístico: la descripción de las variables se realizó por frecuencias absolutas y relativas, los análisis se realizaron en el paquete estadístico STATA 13®. Resultados: participaron 22 pacientes, con una edad mediana de 36 años, la mayoría mujeres, la mediana de inicio de síntomas fue de 31 años (RIC 24-39). La técnica para el diagnóstico más utilizada fue IFI, la clínica más frecuente del evento inicial fue mielitis y de neuritis óptica en las recaídas posteriores, la mitad de los pacientes presentaron dos o menos eventos, ningún paciente cumplió criterios para otra enfermedad sistémica. Se observaron escalas de discapacidad mas altas en el grupo con AQP4 positivos, y mas bajas en los que recibieron corticoide al inicio. Discusión y conclusiones: esta caracterización constituye la primera descripción de esta enfermedad en Colombia, nuestros hallazgos son similares a los obtenidos en otras poblaciones, algunos datos relevantes requieren más estudios.

Introducción: Optic neuromyelitis, a clinical syndrome characterized by the association of transverse myelitis and optic neuritis, is nowadays recognized as a disease whose pathophysiology, clinical features, and diagnostic and laboratory imaging findings are specific. Objective: To describe the clinical characteristics, diagnostic methods and treatment of patients with neuromyelitis Optica (NMO) in three health centers fourth level of the City of Bogota. Materials and method: Design: A case series type was performed. Participants: consecutive cases of patients of either gender were included between 19 and 48 years, divided into two groups according to the International Consensus criteria for the diagnosis of NMO 2015, NMOSD with AQP4-IgG positive, and NMOSD with AQP4- IgG negative. Patients were recruited from three hospitals from June 2013 to May 2015. Statistical analysis: The description of the variables was performed by absolute and relative frequencies, analyzes were performed in STATA statistical package 13®. Results: A total of 22 patients with a median age of 36, mostly women, median onset was 31 years (IQR 24-39). The technique most commonly used for diagnosis was IFI, the most frequent initial clinical event was myelitis and optic neuritis in subsequent relapses, half of the patients had two or fewer events, no patients met criteria for other systemic disease. higher disability scales were observed in the group with positive AQP4, and lower in those receiving corticosteroids at baseline. Discussion and conclusions: This characterization is the first description of this disease in Colombia, our findings are similar to those obtained in other populations, some relevant data require further study.

Espectro de enfermedades desmielinizantes en pediatria experiencia Hospital Universitario de Maracaibo / Spectrum of pediatric experience demyelinating diseases Hospital Universitario de Maracaibo

El espectro de enfermedades desmielinizantes constituye un grupo de entidades clínicas e imagenológicas que presentan una base inmunológica autoinmune donde encontramos más frecuentemente en niños la Encefalomielitis Aguda Diseminada (EMAD), seguida de Neuritis Óptica (NO), Mielitis Transversa (MT), Neuromielitis Óptica (NMO), y Esclerosis Múltiple (EM). Objetivo: Describir el perfil clínico y epidemiológico de las enfermedades desmielinizantes en la edad pediátrica. Métodos: Estudio observacional, descriptivo, incluyendo todos los pacientes menores de 18 años, valorados en el servicio de Neurología Pediátrica del Hospital Universitario de Maracaibo, entre enero 2014 a marzo 2015 con diagnòstico confirmado de enfermedad desmielinizante. Resultados: 11 pacientes entre 1 y 14 años presentaron diagnóstico de enfermedades desmielinizantes predominando el género femenino (64%), la mayoría del Municipio Maracaibo del Estado Zulia. La entidad más frecuente fue EMAD (64%); la clínica predominante fue alteración del estado de conciencia tipo somnolencia (55%). Se presentó un pico en el mes de febrero para la presentación con predominio en el grupo etario adolescentes (37%). Cien porciento de los pacientes presentaron imágenes sugestivas de lesión de sustancia blanca. Conclusión: Las enfermedades desmielinizantes son una realidad en pediatría, siendo en este grupo etario la EMAD la entidad más frecuente. Dada la variedad clínica se hace necesario el conocimiento de estas entidades a fin de poder indicar tratamientos oportunos y adecuados.

The spectrum of demyelinating disease is a group of clinical and imaging entities that have an autoimmune immunological basis, among which the most often described in children is Acute Disseminated Encephalomyelitis (ADEM), followed by optic neuritis (NO), transverse myelitis (MT), optical neuromyelitis (NMO) and Multiple Sclerosis (MS). Objective: To describe the clinical and epidemiological profile of demyelinating diseases in children. Methods: Observational descriptive study including all patients less than 18 years of age, who attended the department of Pediatric Neurology, University Hospital of Maracaibo, between January 2014 and March 2015 with the diagnosis of demyelinating disease. Results: 11 patients between 1 and 14 years (64% females) had a diagnosis of demyelinating diseases. The most common condition was EMAD (64%). The predominant symptoms were altered state of consciousness, type drowsiness (55%). A peak in frequency occurred during February for the age group of adolescents (37%). All patients had images suggestive of white matter injury. Conclusion: Demyelinating diseases are a reality in pediatrics, with EMAD as the most frequent entity. Because of the clinical variety of these pathologies, an adequate knowledge of their presentation is necessary in order to prescribe timely and appropriate treatment.

Alcoholism with central pontine demyelination: a case report.

Central pontine myelinolysis is a non-inflammatory demyelinating disease characterized by loss of myelin with relative neuron sparing, associated with rapid correction of hyponatremia and sometimes hypernatremia or chronic alcoholism. We are reporting a case of 52 year old male patient who was chronic alcoholic from past 20 years, presented to us with complaints of altered sensorium and dysarthria of 5 days duration .He was investigated and diagnosed as case of central pontine myelinosis associated with chronic alcoholism.

Multiple sclerosis and herpesvirus interaction / Esclerose multipla e interacao com os herpesvirus

Multiple sclerosis is the most common autoimmune inflammatory demyelinating disease of the central nervous system, and its etiology is believed to have both genetic and environmental components. Several viruses have already been implicated as triggers and there are several studies that implicate members of the Herpesviridae family in the pathogenesis of MS. The most important characteristic of these viruses is that they have periods of latency and exacerbations within their biological sanctuary, the central nervous system. The Epstein-Barr, cytomegalovirus, human herpesvirus 6 and human herpesvirus 7 viruses are the members that are most studied as being possible triggers of multiple sclerosis. According to evidence in the literature, the herpesvirus family is strongly involved in the pathogenesis of this disease, but it is unlikely that they are the only component responsible for its development. There are probably multiple triggers and more studies are necessary to investigate and define these interactions.

A esclerose múltipla é a doença inflamatória auto-imune mais comum do sistema nervoso central. Sua etiologia já foi creditada apresentar tanto causas genéticas quanto ambientais. Vários vírus já foram implicados como desencadeadores desta doença e existem inúmeros trabalhos fazendo correlação entre a família Herpesviridae e a patogênese da esclerose múltipla. As características mais importantes dos Herpesviridae são as de apresentarem períodos de latência e exacerbação e terem como seu principal santuário biológico o sistema nervoso central. O vírus Epstein-Barr, o citomegalovírus, o herpesvirus tipo 6 e herpesvirus tipo 7 são os membros mais estudados como desencadeadores da esclerose múltipla. Conforme as evidencias que a literatura apresenta a família Herpesviridae está fortemente envolvida na patogênese da esclerose múltipla, porém é pouco provável que sejam os únicos responsáveis pelo seu início. É provável que esta doença apresente inúmeros desencadeadores e mais estudos são necessários para determinar estas interações.

Multiple sclerosis

Multiple sclerosis (MS) is the most common demyelinating disease affecting the central nervous system of young adults living in the western world. MS should be strongly suspected when a young adult develops one or more neurological episodes consistent with damage to white matter within the central nervous system (CNS), especially when these affect the optic nerves, brainstem, or spinal cord. The patient with relapses, each of which can be attributed to demyelination in the CNS, requires no investigation prior to establishing the diagnosis of clinically definite MS. For a diagnosis of MS, separate anatomical sites within the CNS must have been affected on different occasions, typically three. MS in Asian populations is characterized by the selective and dominant involvement of the optic nerve and spinal cord with some incidence of brainstem lesions. 35-40% of MS cases in Korea are of this optico-spinal type with or without brainstem lesions. Reported cases of neuromyelitis optica spectrum disease (NMOSD), causing severe optic neuritis (ON) and/or longitudinally extensive transverse myelitis, either monophase or with a relapse-remitting pattern, some of which were diagnosed previously as the optico-spinal form of MS in Asia, have increased annually in Korea with the development of the NMO-IgG or aquaporin4-antibody detecting technique. NMO-IgG detection is very important in the diagnosis of early stage of NMOSD and the differentiation of MS and other demyelinating disease. Many new convenient oral drugs or very potent intravenous monoclonal antibodies for targeting VLA-4, CD20, and CD52 may decrease the annual relapse rate and burden of brain-spinal cord lesionsin MS.

Two Cases of Tumefactive Lesion: Demyelinating Disease Versus Brain Tumor

No abstract available.

Clinical Characteristics and Prognosis of Acute Disseminated Encephalomyelitis in Children

PURPOSE: Acute disseminated encephalomyelitis (ADEM) is an immune mediated demyelinating disease of the central nervous system (CNS) that produces multiple inflammatory lesions, particularly in the white matter. Clinical course and outcomes of ADEM are diverse. We investigated the clinical characteristics and prognosis of ADEM in children. METHODS: We reviewed medical records of 25 patients aged less than 18 years and diagnosed with ADEM in Severance Children's Hospital from January 2001 to March 2011. Clinical features and brain MRI(Magnetic Resonance Imaging) findings were analyzed. RESULTS: The most common preceding symptom was nonspecific febrile illness (50%), followed by upper respiratory infection (29%) and gastrointestinal symptoms (29%). Common neurologic manifestations included altered consciousness (68%), seizure (25%) and gait disturbance (14%). Subcortical white matter was the most commonly involved region (72%). Among 25 patients, 15 patients (60%) fully recovered and the others had complications. Four patients relapsed and they were classified into multiphasic ADEM (2), recurrent ADEM (1) and suspicious multiple sclerosis (1). CONCLUSION: ADEM shows diverse neurologic manifestations. It is usually monophasic, but rarely relapses. Therefore, distinction between ADEM and multiple sclerosis is difficult. Further studies are needed to find out the factors associated with developing multiple sclerosis in patients with CNS demyelinating disease.

Isolation & characterization of Bartonella sp. from optic neuritis patients.

Background & objectives: Optic neuritis (ON) is characterized by sudden and rapid impairment of vision. Bartonella henselae is a known aetiological agent of cat scratch disease (CSD), which is a common cause of neuroretinitis, the least common type of optic neuritis. The present study was carried out to determine the microbiological aetiology of optic neuritis in patients attending a tertiary care eye hospital in north India, which was later confirmed with molecular characterization. Methods: Of the 50 patients suffering from optic neuritis reported to the Ophthalmology OPD of a tertiary care eye hospital in New Delhi, India, 29 were included in the study. Blood culture from these patients were processed for aerobic and anerobic cultures to rule out infective aetiology. Subsequently, PCR was done on archive, glycerol-stocked cultures. Results: Gram-negative pleomorphic coccobacilli grew in four of 29 patients tested. Characterization of these revealed Bartonella like organism as tested by the API 20E, API Staph, API Strept and RapID ANA systems. Electron microscopy revealed presence of polar flagella and bleb like projection all over the bacterial surface. PCR performed on preserved culture confirmed these as Bartonella sp. Interpretation & conclusions: Infections with Bartonella like organisms have not been demonstrated from India in cases of optic neuritis or in any of the other clinical syndromes in the past. The present study shows the isolation and characterization of Bartonella like organisms from optic neuritis patients. From clinical point of view it will be important to look for these organisms as aetiological agents in ON cases in order to treat with appropriate antibiotics.

Neurologic Manifestations and Prognosis in Hemophagocytic Lymphohistiocytosis

PURPOSE: Hemophagocytic lymphohistiocytosis (HLH) presenting with neurologic manifestationhas a poor prognosis due to delayed diagnosis and treatment. We investigated the time between onset of symptoms and diagnosis of HLH and clinical findings and outcome in patients with HLH presenting with neurologic manifestation. METHODS: We retrospectively assessed 24 patients with HLH in Seoul National University Children's Hospital from January 2002 to December 2010. Sex, age on diagnosis, symptoms, laboratory findings, time between onset of symptoms and diagnosis of HLH, cerebral spinal fluid (CSF) findings and brain magnetic resonance imaging (MRI) findings were reviewed. RESULTS: At diagnosis, 7 children (29.2%) had neurologic symptoms, including seizure (n=6) and right side weakness (n=1). Time to diagnosis from onset of symptoms ranged between 7 and 385 days in patients with neurologic symptoms and between 2 and 87 days in patients without neurologic symptoms. Five patients had brain MRI abnormalities; radiologic findings were multiple high signal intensity lesions on T2-weighted image (n=3), focal high signal intensity lesion followed by severe cerebral edema (n=1), and diffuse cerebral atrophy (n=1).Of these 7 patients, 4 died, 1 underwent stem cell transplantation and was followed, 1 was followed after completion of therapy without neurologic sequelae, and 1 is still under treatment and has mild neurologic sequelae. CONCLUSION: HLH presenting with neurologic manifestation is difficult to distinguish from other diseases because of nonspecific symptoms and imaging findings. However, HLH is treatable with chemotherapy and stem cell transplantation, so it is important to consider HLH in a patient with neurologic disease that is unresponsive to treatment and accompanies systemic symptoms.