A Esclerose Múltipla Pediátrica (EMP) é uma forma rara de esclerose múltipla que começa antes dos 18 anos de idade. Ela se caracteriza por um ou mais episódios de sintomas neurológicos (do sistema nervoso central) causados pela perda da mielina (a capa protetora dos nervos), com a presença de lesões inflamatórias visíveis em exames de imagem (como ressonância magnética) em diferentes áreas e em momentos variados, e desde que outras doenças tenham sido descartadas. Na EMP, a doença geralmente se manifesta em surtos, com períodos de piora seguidos por recuperação (chamado curso remitente-recorrente). O primeiro surto costuma ser uma neurite óptica (inflamação do nervo óptico), mielite transversa (inflamação da medula espinhal), encefalomielite disseminada aguda (EDA, uma inflamação que afeta várias partes do cérebro e medula) ou sintomas neurológicos que atingem uma ou mais áreas do sistema nervoso. É comum encontrar um grande número de lesões visíveis como pontos brilhantes na ressonância magnética inicial, localizadas principalmente na parte superior do cérebro (região supratentorial) e/ou na medula espinhal do pescoço.
Introdução
O que você precisa saber de cara
A Esclerose Múltipla Pediátrica (EMP) é uma forma rara de esclerose múltipla que começa antes dos 18 anos de idade. Ela se caracteriza por um ou mais episódios de sintomas neurológicos (do sistema nervoso central) causados pela perda da mielina (a capa protetora dos nervos), com a presença de lesões inflamatórias visíveis em exames de imagem (como ressonância magnética) em diferentes áreas e em momentos variados, e desde que outras doenças tenham sido descartadas. Na EMP, a doença geralmente se manifesta em surtos, com períodos de piora seguidos por recuperação (chamado curso remitente-recorrente). O primeiro surto costuma ser uma neurite óptica (inflamação do nervo óptico), mielite transversa (inflamação da medula espinhal), encefalomielite disseminada aguda (EDA, uma inflamação que afeta várias partes do cérebro e medula) ou sintomas neurológicos que atingem uma ou mais áreas do sistema nervoso. É comum encontrar um grande número de lesões visíveis como pontos brilhantes na ressonância magnética inicial, localizadas principalmente na parte superior do cérebro (região supratentorial) e/ou na medula espinhal do pescoço.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição.
Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC
Cell membraneEndoplasmic reticulum membraneGolgi apparatus, trans-Golgi network membraneEndosome membraneLysosome membrane
A beta chain of antigen-presenting major histocompatibility complex class II (MHCII) molecule. In complex with the alpha chain HLA-DRA, displays antigenic peptides on professional antigen presenting cells (APCs) for recognition by alpha-beta T cell receptor (TCR) on HLA-DRB1-restricted CD4-positive T cells. This guides antigen-specific T-helper effector functions, both antibody-mediated immune response and macrophage activation, to ultimately eliminate the infectious agents and transformed cells
Cell membraneEndoplasmic reticulum membraneLysosome membraneLate endosome membraneAutolysosome membrane
Variantes genéticas (ClinVar)
44 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
7 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
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19 ensaios clínicos encontrados, 4 ativos.
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Onset of multiple sclerosis (MS) in childhood and adolescence has now been well-recognized over the past 10-15 years. There have been significant advances in the understanding of the disease course of pediatric MS, which is highly inflammatory, with a higher relapse rate than adult MS. High-efficacy, disease-modifying treatments are recommended for the management of pediatric MS, and these treatments have been studied in open-label and retrospective studies, several of which are outlined here. Fingolimod (Gilenya) is approved for pediatric MS in the United States and many world regions. Several treatments used for adult MS are now being trialed in pediatric MS.
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Journal of child neurologyTrends in the Epidemiology and Treatment of Pediatric-Onset Multiple Sclerosis in Alberta, Canada.
Journal of child neurologyThe State of the Art of Pediatric Multiple Sclerosis.
International journal of molecular sciencesComparison of acute flaccid myelitis and transverse myelitis in children and evaluation of diagnostic criteria.
European journal of neurologyThe Neutrophil-to-Lymphocyte Ratio and the Monocyte-to-Lymphocyte Ratio Predict Expanded Disability Status Scale Score at One Year in Pediatric Neuromyelitis Optica Spectrum Disorder but not in Multiple Sclerosis.
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European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyPinch Strength Measurements in Adolescents With Pediatric Multiple Sclerosis.
International journal of MS carePediatric Multiple Sclerosis-Experience of a Tertiary Care Center.
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NeurologySecondary Progressive Multiple Sclerosis: A Review of Clinical Characteristics, Definition, Prognostic Tools, and Disease-Modifying Therapies.
Neurology(R) neuroimmunology & neuroinflammationThe Economic and Humanistic Burden of Pediatric-Onset Multiple Sclerosis.
Journal of health economics and outcomes researchA combination of Q-TOF LC/MS and LC-MS/MS based metabolomics in pediatric-onset multiple sclerosis demonstrates potential biomarkers for unclassified patients.
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The Lancet. NeurologyA new look at cognitive functioning in pediatric MS.
Multiple sclerosis (Houndmills, Basingstoke, England)Pediatric tumefactive multiple sclerosis case (with baló-like lesions), diagnostic and treatment challenges.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyConsidering the Future of Pediatric Multiple Sclerosis Trials After the CONNECT Open-Label Randomized Trial.
JAMA network openRe-examining the characteristics of pediatric multiple sclerosis in the era of antibody-associated demyelinating syndromes.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyMOG and AQP4 Antibodies among Children with Multiple Sclerosis and Controls.
Annals of neurology[Differential diagnosis of multiple sclerosis in children].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaCharacteristic retinal atrophy pattern allows differentiation between pediatric MOGAD and MS after a single optic neuritis episode.
Journal of neurologyOligoclonal bands, age 11-17 years, occipital lesion, and female sex differentiate pediatric multiple sclerosis from acute disseminated encephalomyelitis: A nationwide cohort study.
Multiple sclerosis and related disordersLong-term follow-up (up to 11 years) of an Italian pediatric MS cohort treated with Natalizumab: a multicenter, observational study.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyAssociation between intelligence quotient scores and body mass index in pediatric multiple sclerosis.
Applied neuropsychology. ChildQuality of life in pediatric-onset multiple sclerosis: Different disease course, different impact, different measurement approach needed.
Multiple sclerosis and related disordersAnalysis of the Group of Pediatric Patients With Relapsing-Remitting Multiple Sclerosis: Data From the Czech National Registry.
Frontiers in neurologyImproving pediatric multiple sclerosis interventional phase III study design: a meta-analysis.
Therapeutic advances in neurological disordersMagnetic resonance imaging criteria at onset to differentiate pediatric multiple sclerosis from acute disseminated encephalomyelitis: A nationwide cohort study.
Multiple sclerosis and related disordersPediatric multiple sclerosis: developments in timely diagnosis and prognostication.
Expert review of neurotherapeuticsProgressive retinal changes in pediatric multiple sclerosis.
Multiple sclerosis and related disordersEffect of fingolimod on health-related quality of life in paediatric patients with multiple sclerosis: results from the phase 3 PARADIGMS Study.
BMJ neurology openStructural visual metrics associate with moderate to vigorous physical activity in youth with pediatric onset neuroinflammatory disorders.
Multiple sclerosis and related disordersPreventing Multiple Sclerosis: The Pediatric Perspective.
Frontiers in neurologyPhysical Activity and Sedentary Behavior Patterns Across Weekdays and Weekend Days in Youth With Multiple Sclerosis and Controls.
International journal of MS careIncidence of Pediatric Multiple Sclerosis in Iran within 2000-2019.
Iranian journal of child neurologyBody size perceptions & diet modification in youth with multiple sclerosis.
Multiple sclerosis and related disordersFactors supporting availability of home-based Neuromodulation using remote supervision in middle-income countries; Brazil experience.
Brain stimulationGenerating real-world data from health records: design of a patient-centric study in multiple sclerosis using a commercial health records platform.
JAMIA openComparing Natural History of Early and Late Onset Pediatric Multiple Sclerosis.
Annals of neurologyUrine neopterin in childhood acute demyelinating diseases: Potential for differential diagnosis.
Multiple sclerosis and related disordersTeriflunomide Reduced Lesions in Pediatric Multiple Sclerosis.
JAMAGene-environment interactions increase the risk of pediatric-onset multiple sclerosis associated with ozone pollution.
Multiple sclerosis (Houndmills, Basingstoke, England)The usefulness of visual evoked potentials in the assessment of the pediatric multiple sclerosis.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyFeasibility of a theory-informed mobile app for changing physical activity in youth with multiple sclerosis.
Multiple sclerosis and related disordersPsychosis: a rare onset symptom of pediatric multiple sclerosis.
NeurocaseThe gut microbiota in pediatric multiple sclerosis and demyelinating syndromes.
Annals of clinical and translational neurologyAssociation Between Time Spent Outdoors and Risk of Multiple Sclerosis.
NeurologyEtiological research in pediatric multiple sclerosis: A tool to assess environmental exposures (PEDiatric Italian Genetic and enviRonment ExposurE Questionnaire).
Multiple sclerosis journal - experimental, translational and clinical[Effective therapy in highly active pediatric multiple sclerosis].
Ideggyogyaszati szemleAcute disseminated encephalomyelitis: A retrospective study of 20 children in a pediatrics department in Tunisia.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrieShared Decision Making and Disease Modifying Therapy in Families of Children and Adolescents with Pediatric Onset Multiple Sclerosis.
Journal of pediatric nursingUtility of paramagnetic rim lesions on 1.5-T susceptibility phase imaging for the diagnosis of pediatric multiple sclerosis.
Pediatric radiologyFingolimod as a first- or second-line treatment in a mini-series of young Hellenic patients with adolescent-onset multiple sclerosis: focus on immunological data.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyUse and Safety of Immunotherapeutic Management of N-Methyl-d-Aspartate Receptor Antibody Encephalitis: A Meta-analysis.
JAMA neurologyFamily Perspectives on Clinical Research for Pediatric Multiple Sclerosis: Enhancing Equity.
Journal of patient experienceIncreased Prevalence of Familial Autoimmune Disease in Children With Opsoclonus-Myoclonus Syndrome.
Neurology(R) neuroimmunology & neuroinflammationGut microbiome is associated with multiple sclerosis activity in children.
Annals of clinical and translational neurologyFamilial History of Autoimmune Disorders Among Patients With Pediatric Multiple Sclerosis.
Neurology(R) neuroimmunology & neuroinflammationPrevalence of pediatric multiple sclerosis in Germany: A nationwide population-based analysis.
European journal of neurologyNeeds and Experiences of Children and Adolescents with Pediatric Multiple Sclerosis and Their Caregivers: A Systematic Review.
Children (Basel, Switzerland)A Randomized Computer-Assisted Rehabilitation Trial of Attention in Pediatric Multiple Sclerosis: A Post Hoc Analysis.
Brain sciencesEnhancing Mood, Cognition, and Quality of Life in Pediatric Multiple Sclerosis.
Paediatric drugsEvaluation of inflammatory acquired demyelinating syndromes in children: a single-center experience.
Acta neurologica BelgicaEarly-Onset Multiple Sclerosis With Frequent Relapses: A Challenging Diagnosis With a Less Favorable Prognosis.
CureusCognitive Issues in Pediatric Multiple Sclerosis.
Brain sciencesQuality of life measures in pediatric multiple sclerosis: a systematic review and meta-analysis.
Developmental medicine and child neurologyEfficacy of fingolimod after switching from interferon β-1a in an adolescent with multiple sclerosis: case report.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyEarly Predictors of 9-Year Disability in Pediatric Multiple Sclerosis.
Annals of neurologyPro-inflammatory adiponectin in pediatric-onset multiple sclerosis.
Multiple sclerosis (Houndmills, Basingstoke, England)Prognostic factors for relapse and outcome in pediatric acute transverse myelitis.
Brain & developmentAnakinra usage in febrile infection related epilepsy syndrome: an international cohort.
Annals of clinical and translational neurologyPaediatric multiple sclerosis and antibody-associated demyelination: clinical, imaging, and biological considerations for diagnosis and care.
The Lancet. NeurologyFingolimod in pediatric multiple sclerosis: three case reports.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyDelayed-Release Dimethyl Fumarate Safety and Efficacy in Pediatric Patients With Relapsing-Remitting Multiple Sclerosis.
Frontiers in neurologyTwo-year follow-up during fingolimod treatment in a pediatric multiple sclerosis patient still active on first-line treatment.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyMagnetic resonance imaging at baseline and follow-up to differentiate between pediatric monophasic acquired CNS demyelination and MS.
Multiple sclerosis and related disordersCharacteristics of pediatric multiple sclerosis: A tertiary referral center study.
PloS one[Clinical observation experience of a pediatric patient with primary progressive multiple sclerosis in the Moscow office for the treatment of children and adolescents with multiple sclerosis].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaInterval Timing in Pediatric Multiple Sclerosis: Impaired in the Subsecond Range but Unimpaired in the One-Second Range.
Frontiers in neurologyCognitive Assessment and Rehabilitation for Pediatric-Onset Multiple Sclerosis: A Scoping Review.
Children (Basel, Switzerland)Associações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- The Use of Patient-Reported Outcome Measures in Developmental Age: A Complementary Tool for Pediatric Multiple Sclerosis Prognosis.
- Reducing Early-Life Smoke Exposure as a Preventive Strategy for Pediatric Multiple Sclerosis: Results from the PEDIGREE Study.
- Disease-modifying therapy in pediatric multiple sclerosis.
- A Scoping Review of Transition to Adult Care in Pediatric-Onset Multiple Sclerosis: An Opportunity to Advance Research.
- Real-World Effectiveness of Switching to Oral or Infusion Versus Injectable Disease-Modifying Therapy in Pediatric Multiple Sclerosis.
- Chronic Active Lesions in Pediatric Multiple Sclerosis.
- Chronic Active Lesions in Pediatric Multiple Sclerosis-Reply.
- Pediatric-Onset Multiple Sclerosis at Age 10 Following Nephrotic Syndrome: Early Recognition and Successful Treatment With Fingolimod.
- Prevalence, Incidence, and Risk of Different Comorbidity Categories in Pediatric Multiple Sclerosis: A Systematic Review and Meta-Analysis Protocol.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:477738(Orphanet)
- MONDO:0018784(MONDO)
- Esclerose Multipla(PCDT · Ministério da Saúde)
- GARD:10443(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55788335(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
