Ependimoma mixopapilar (EMPN) é um tipo de tumor que cresce devagar e que quase sempre fica na parte de baixo da medula espinhal, nas regiões conhecidas como cone medular, cauda equina e filamento terminal. Pode aparecer em pessoas de todas as idades, causando sintomas variados como dor no pescoço, vômitos e dificuldade para andar. Este tumor é mais comum em crianças, e apesar de seu crescimento ser lento, ele pode ter uma evolução mais agressiva, podendo se espalhar para outras partes do corpo (metástase).
Introdução
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Ependimoma mixopapilar (EMPN) é um tipo de tumor que cresce devagar e que quase sempre fica na parte de baixo da medula espinhal, nas regiões conhecidas como cone medular, cauda equina e filamento terminal. Pode aparecer em pessoas de todas as idades, causando sintomas variados como dor no pescoço, vômitos e dificuldade para andar. Este tumor é mais comum em crianças, e apesar de seu crescimento ser lento, ele pode ter uma evolução mais agressiva, podendo se espalhar para outras partes do corpo (metástase).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 7 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 12 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
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)
🇧🇷 Atendimento SUS — Ependimoma mixopapilar
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Case Report: Molecular diagnostics and clinical courses of two adult spinal pilocytic astrocytoma long-term survivors with GTF2I::BRAF fusion.
Pilocytic astrocytomas are driven by BRAF and mitogen-activated protein kinase (MAPK) alterations, typically KIAA1549::BRAF fusions. A rare GTF2I::BRAF fusion has been described, but little is known about these cases. Here, we report two cases with GTF2I::BRAF fusions. Case 1 is a 36-year-old man initially diagnosed with myxopapillary ependymoma at the conus medullaris with three recurrences over 23 years requiring two surgeries, three rounds of radiation therapy, and one round of lapatinib/temozolomide. A distant disease focus in T3/T4 was sampled and tested with modern diagnostic techniques revealing a pilocytic astrocytoma on histology and methylation profiling. The patient has subsequently had stable clinical and radiographic findings. Case 2 is another 36-year-old man initially diagnosed with meningitis and later neurosarcoid who underwent biopsy after 12 years when his spinal leptomeningeal disease continued to progress and an intraventricular non-enhancing nodule emerged as a separate focus. Sampling of the leptomeningeal disease led to a diagnosis of pilocytic astrocytoma by histology and a divergent methylation profile. The patient has remained neurologically stable under radiographic surveillance without any intervention. Radiographic, histological, and molecular data are presented for both cases and compared against the only other reported GTF2I::BRAF CNS case, as well as canonical versions of pilocytic astrocytoma. To our knowledge, this is only the second case series highlighting a unique GTF2I::BRAF fusion and the first to describe it in adults in a spinal location. The manuscript contributes documentation of a rare fusion and tumor presentation to guide clinicians and potential research avenues.
Surgical treatment of myxopapillary ependymoma: an institutional case series of 56 patients.
The aim of this study was to review the management and outcomes of a consecutive cohort of patients with spinal myxopapillary ependymoma (MPE) treated at the authors' institution over a 23-year period. A retrospective review of all patients treated surgically for spinal MPEs at a single institution between May 1998 and August 2021 was performed. Preoperative and postoperative clinical data, imaging, and/or radiology reports were reviewed to identify patient presentation and outcomes as well as tumor size, location, CSF dissemination, and other features. Method and extent of resection were characterized and related to preoperative tumor characteristics and outcomes. Fifty-six patients underwent 60 index surgical procedures at a single institution, including 4 surgeries for resection of a solitary drop sacral metastasis. The median postoperative follow-up was 126 months (range 22-304 months). En bloc gross-total resection (EGTR) was performed in 15 cases, marginal GTR (MGTR) in 17, piecemeal GTR (PGTR) in 6, piecemeal near-total resection (PNTR) in 9, and subtotal resection (STR) in 13 cases. Of the 55 primary filum terminale MPEs, 40 (73%) arose proximally, with their inferior tumor margin located at or above the L3 vertebral body. Nearly all patients who underwent EGTR (14/15) or MGTR (17/17) had MPEs that originated in the proximal filum terminale. In contrast, 10 of 13 patients who underwent STR had a distal MPE origin (below L3). CSF tumor dissemination, including drop metastases, was identified in 19.6% (11/56) of patients. Tumor size, especially width, significantly influenced the method of complete resection: the mean width of tumors resected with EGTR was 1.0 cm (range 0.4-1.7 cm) while the mean width of MGTR tumors was 1.5 cm (range 1.0-2.2 cm) (p < 0.001). Location, size, and marginal integrity of the tumor surface were important factors that influenced extent and quality of resection. MPEs are benign tumors that arise predominantly from the filum terminale. Resection can be curative, especially for well-marginated tumors arising from the proximal filum terminale. Despite their benign nature, the tumors' lack of a capsule, friable tumor consistency, and frequent direct contact with the CSF and cauda equina create a propensity for local recurrence and CSF dissemination, especially for larger and distally originating tumors. Thus, long-term follow-up is recommended for all patients as is early surgical intervention for small, incidental MPEs.
Ependymal Tumors.
The 2021 WHO Brain Tumor classification update grouped ependymal tumors into 3 anatomic locations-supratentorial, posterior fossa, and spinal. Supratentorial ependymomas now include ZFTA-fusion tumors which are often cystic, hemorrhagic, and show marked edema and YAP1-fusion tumors which demonstrate garlanded peripheral solid enhancement and diffusion-restriction. Posterior fossa ependymomas are now grouped by methylation profile into category A-typical posterior fossa ependymoma and category B which present in older children with smaller lesions with a better prognosis. Spinal ependymoma is relatively unchanged by molecular characterization apart from the new MYCN-altered tumor which has poor prognosis and is often advanced/disseminated at presentation.
Maternal Neurosurgical Management of Central Nervous System Tumors During Pregnancy: A Case Series with Long-Term Offspring Neurodevelopmental Follow-Up.
This study aims to evaluate treatment strategies for maternal central nervous system (CNS) tumors during pregnancy and their effect on the long-term fetal neuromotor development. The clinical and radiological characteristics of these lesions were analyzed throughout the gestational and postpartum periods. Nine pregnant women with symptomatic intradural CNS tumors were included in this study. We recorded surgical timing, hospital stay length, anesthesia exposure details, maternal-fetal outcomes, and the neuromotor status of the offspring. Neuromotor follow-up was assessed using the Ankara Developmental Screening Inventory Test for children under 6 years old and the Wechsler Intelligence Scale-IV for those older than 6 years. Of the 8 operated CNS tumors, 3 huge malignant brain tumors (gliosarcoma, high-grade glioma, and multiple myeloma metastasis) were operated during pregnancy. The other 3 brain tumors and 2 spinal tumors (high-grade glioma, meningioma, pituitary neuroendocrine tumor, myxopapillary ependymoma, cervical schwannoma) were operated after delivery. One with symptomatic pituitary neuroendocrine tumor was treated conservatively. No maternal or fetal mortality was observed in our series. Disseminated intravascular coagulation occurred as a major complication, with an incidence of 12.5% among operated CNS tumors. Mental-motor retardation was not observed and preterm children (<34 weeks) had borderline cognitive scores. CNS tumors during pregnancy require multidisciplinary strategies that prioritize both maternal and fetal safety. Our neurosurgical interventions, whether performed during gestation or after delivery, were not associated with early maternal or fetal mortality in our cohort. Prematurity before 34 gestational weeks were observed to be associated with borderline cognitive scores in young ages.
Retraction: Spinal myxopapillary ependymoma with anaplastic features: A case report and review of the literature.
[This retracts the article DOI: 10.25259/SNI_118_2025.].
Publicações recentes
Clinical and Magnetic Resonance Features of Spinal Myxopapillary Ependymoma.
A 35-Year-Old Female with Papilledema and Spinal Tumor.
Case Report: Molecular diagnostics and clinical courses of two adult spinal pilocytic astrocytoma long-term survivors with GTF2I::BRAF fusion.
Surgical treatment of myxopapillary ependymoma: an institutional case series of 56 patients.
Radiological analysis correlated with neurological outcomes following resection of myxopapillary ependymoma: patient series.
📚 EuropePMC318 artigos no totalmostrando 195
Case Report: Molecular diagnostics and clinical courses of two adult spinal pilocytic astrocytoma long-term survivors with GTF2I::BRAF fusion.
Frontiers in oncologySurgical treatment of myxopapillary ependymoma: an institutional case series of 56 patients.
Journal of neurosurgery. SpineRadiological analysis correlated with neurological outcomes following resection of myxopapillary ependymoma: patient series.
Journal of neurosurgery. Case lessonsMultifocal Spinal Intradural Myxopapillary Ependymoma.
Indian journal of orthopaedicsSyncope in a Patient With an Extensive Thoracolumbosacral Myxopapillary Ependymoma.
CureusMaternal Neurosurgical Management of Central Nervous System Tumors During Pregnancy: A Case Series with Long-Term Offspring Neurodevelopmental Follow-Up.
World neurosurgeryMulti-omics analysis delineates molecular signatures of spinal ependymal tumor.
Cellular oncology (Dordrecht, Netherlands)Clinical profile and outcomes of pediatric ependymoma: a 10-year retrospective analysis from a resource-limited setting.
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Surgical neurology internationalIntramedullary Schwannoma of the Conus Medullaris Presenting With Progressive Paraparesis: A Rare Case From a Resource-Limited Setting.
Clinical case reportsNationwide Brain Tumor Registry-based Study of Adult Intracranial Ependymoma in Japan.
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Frontiers in oncologyRadiation Therapy Target Volume Definition for Myxopapillary Ependymoma of the Lumbosacral Spine Without Indication for Craniospinal Irradiation: The Question of Extending the Target Inferiorly to Include the Proximal Nerve Roots and Thecal Sac.
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Radiology case reportsImpact of molecular classification on prognosis in children and adolescents with spinal ependymoma: Results from the HIT-MED database.
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Asian journal of neurosurgeryTreatment of Extraneural Metastases of Myxopapillary Ependymomas With Dose-Dense Temozolomide and Lapatinib.
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Scientific reportsSpinal ependymoma in adults: from molecular advances to new treatment perspectives.
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The neurologist[Ependymoma in WHO Classification of Tumours 5th Edition].
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Neuro-ChirurgieMulti-institutional Characterization of Outcomes for Pediatric and Young Adult Patients With High-Risk Myxopapillary Ependymoma After Radiation Therapy.
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Radiology case reportsTanycytic ependymoma: highlighting challenges in radio-pathological diagnosis.
Indian journal of pathology & microbiologyCauda equina ependymomas: surgical treatment and long-term outcomes in a series of 125 patients.
Journal of neurosurgery. SpinePediatric Extraspinal Sacrococcygeal Ependymoma: Report of Two Cases and Literature Review.
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The Pan African medical journalMyxopapillary ependymomas; proximity to the conus and its effect on presentation and outcomes.
Surgical neurology internationalCytology of Extraneural Metastases of Nonhematolymphoid Primary Central Nervous System Tumors: Six Cases with Histopathological Correlation and Literature Update.
Acta cytologicaGangliocytic paraganglioma of the spine.
Autopsy & case reportsMicrosurgical Resection of Giant Thoraco-Lumbo-Sacral Ependymoma With Hybrid Spinal Reconstruction Using Multilevel Laminoplasty and Up-Front Thoracolumbar Posterior Fixation: 2-Dimensional Operative Video.
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Journal of neurosurgery. Case lessonsSurgical management of a rare myxopapillary ependymoma of the gluteal region: A case report.
Surgical neurology internationalAdjunctive treatment of myxopapillary ependymoma.
Oncology reviewsLumbar Laminoplasty for Resection of Myxopapillary Ependymoma of the Conus Medullaris: 2-Dimensional Operative Video.
Operative neurosurgery (Hagerstown, Md.)Clinical characteristics and long-term surgical outcome of spinal myxopapillary ependymoma: a French cohort of 101 patients.
Journal of neuro-oncologyGiant intradural myxopapillary ependymoma: review of literature.
BMJ case reportsTwo cases of normal pressure hydrocephalus caused by ependymoma of the cauda equina.
Surgical neurology internationalCSF Otorrhea: A rare presentation of spinal myxopapillary ependymoma.
Neuro-ChirurgieMYXOPAPILLARY EPENDYMOMA OF THE SPINAL CORD IN ADULTS: A REPORT OF PERSONAL SERIES AND REVIEW OF LITERATURE.
Acta clinica CroaticaClinical Features, Treatments, and Prognostic Factors of Spinal Myxopapillary Ependymoma.
World neurosurgeryParaganglioma of the filum terminal: Case report and review of the literature.
International journal of surgery case reportsMetastatic myxopapillary ependymoma treated with immunotherapy achieving durable response.
BMJ case reportsOutcomes following limited-volume proton therapy for multifocal spinal myxopapillary ependymoma.
Pediatric blood & cancerTumors in the cauda equina: A SEER analysis of tumor types and predictors of outcome.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaLong-term outcomes of spinal ependymomas: an institutional experience of more than 60 cases.
Journal of neuro-oncologyEpendymomas of Filum Terminale: Clinical Characteristics and Surgical Management of 5 Patients.
World neurosurgeryImage report: Extensive disseminated thoracolumbosacral myxopapillary ependymoma.
Surgical neurology internationalAtypical Imaging of Hemorrhagic Lumbosacral Myxopapillary Ependymoma with Histopathological Correlation: A Case Report.
The American journal of case reportsOverexpression of Long Noncoding RNA HOTAIR Is a Unique Epigenetic Characteristic of Myxopapillary Ependymoma.
Journal of neuropathology and experimental neurologyPreoperative Intracranial Dissemination of Spinal Myxopapillary Ependymoma Attributed to Tumor Hemorrhage.
World neurosurgerySpinal Seeding Metastasis of Myxopapillary Ependymoma: Report of Three Pediatric Patients and a Brief Literature Review.
Pediatric neurosurgeryAnaplastic Transformation in Myxopapillary Ependymoma: A Report of 2 Cases and Review of the Literature.
Journal of neuropathology and experimental neurologyAn unexpected diagnosis of paediatric subcutaneous sacrococcygeal extraspinal ependymoma: lessons learnt and review of the literature.
Journal of surgical case reportsFirst-Onset Hypokalemic Periodic Paralysis Following Surgery for Myxopapillary Ependymoma.
World neurosurgeryIntramedullary Masses of the Spinal Cord: Radiologic-Pathologic Correlation.
Radiographics : a review publication of the Radiological Society of North America, InccIMPACT-NOW update 7: advancing the molecular classification of ependymal tumors.
Brain pathology (Zurich, Switzerland)Freiburg Neuropathology Case Conference : A Hearing-Impaired Patient Presenting with Lower Limb Ataxia and Progressive Personality Changes.
Clinical neuroradiologyReports of a Conus Cauda Tumor with Holocord Syrinx in an Adolescent Girl.
Journal of pediatric neurosciencesAnalyzing the role of adjuvant or salvage radiotherapy for spinal myxopapillary ependymomas.
Journal of neurosurgery. SpineMobile Myxopapillary Ependymoma with Associated Filum Terminale Cyst.
World neurosurgeryDiagnosis: subcutaneous myxopapillary ependymoma.
Skeletal radiologyLong-term survival of a sacro-coccygeal myxopapillary ependymoma with extra-neural metastases: case report and review of the literature.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyFilum Terminale Ependymoma in an Infant with Meningocele.
Pediatric neurosurgerySubcutaneous sacrococcygeal myxopapillary ependymoma misdiagnosed as pilonidal disease.
BMJ case reportsLong-Term Surgical Resection Outcomes of Pediatric Myxopapillary Ependymoma: Experience of Two Centers and Brief Literature Review.
World neurosurgeryRecurrent Extradural Myxopapillary Ependymoma With Oligometastatic Spread.
Frontiers in oncologyMolecular characterization of histopathological ependymoma variants.
Acta neuropathologicaPretemporal transcavernous transtentorial approach for left pontine glioma.
Neurosurgical focus: VideoA rare case of an intramedullary metastasis of a myxopapillary ependymoma.
Surgical neurology internationalManagement and Outcome Analysis of Conus and Filum ependymoma: A Tertiary Center Study.
Asian journal of neurosurgeryClinical characteristics and surgical outcomes of spinal myxopapillary ependymomas.
Neurosurgical reviewMyxopapillary ependymoma of cauda equina presented with communicating hydrocephalus and papilloedema: A case report.
The Medical journal of Malaysia[Superficial siderosis of the central nervous system caused by myxopapillary ependymoma of conus medullaris and cauda equine: a case report and literature review].
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciencesOperative Adjuncts and Technique for En Bloc Removal of Lumbar Intradural-Extramedullary Tumor: 2-Dimensional Operative Video.
Operative neurosurgery (Hagerstown, Md.)TERTp Mutation Detection in Plasma by Droplet-Digital Polymerase Chain Reaction in Spinal Myxopapillary Ependymoma with Lung Metastases.
World neurosurgeryInvasive myxopapillary ependymoma of the lumbar spine: A case report.
World journal of clinical casesSpinal Myxopapillary Ependymoma: The Sapienza University Experience and Comprehensive Literature Review Concerning the Clinical Course of 1602 Patients.
World neurosurgeryFreiburg Neuropathology Case Conference: a Hemorrhagic Intraspinal Tumor Extending from L3 to S1.
Clinical neuroradiologyResection of Myxopapillary Ependymoma of the Filum Terminale: 2-Dimensional Operative Video.
Operative neurosurgery (Hagerstown, Md.)Intradural Extramedullary Spinal Neoplasms: Radiologic-Pathologic Correlation.
Radiographics : a review publication of the Radiological Society of North America, IncMyxopapillary Ependymoma.
Radiographics : a review publication of the Radiological Society of North America, IncClinicopathologic features of anaplastic myxopapillary ependymomas.
Brain pathology (Zurich, Switzerland)Natural Course of Myxopapillary Ependymoma: Unusual Case Report and Review of Literature.
World neurosurgeryIsolated myxopapillary ependymoma of the fourth ventricle: case report and review of literature.
British journal of neurosurgeryMyxopapillary ependymoma with anaplastic features: A case report with review of the literature.
Surgical neurology internationalDNA methylation-based classification of ependymomas in adulthood: implications for diagnosis and treatment.
Neuro-oncologySporadic NF2 Mosaic: Multiple spinal schwannomas presenting with severe, intractable pain following pregnancy.
Interdisciplinary neurosurgery : Advanced techniques and case managementPediatric extraspinal sacrococcygeal ependymoma (ESE): an Italian AIEOP experience of six cases and literature review.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgerySuperficial Siderosis of the Central Nervous System due to Spinal Ependymoma.
Annals of geriatric medicine and researchTeaching Case 2-2018: Sclerosing myxopapillary ependymoma mimicking whorling-sclerosing meningioma.
Clinical neuropathologyUnusual paediatric spinal myxopapillary ependymomas: Unique molecular entities or pathological variations on a theme?
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaUnique combination of myxopapillary ependymoma and conus lipoma with subcutaneous extension in an 11-month-old child.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryUnusual cauda equina syndrome due to multifocal ependymoma infiltrated by lymphoma.
Journal of spine surgery (Hong Kong)Surgical Treatment of Spinal Ependymomas: Experience in 49 Patients.
World neurosurgeryRemarkable efficacy of temozolomide for relapsed spinal myxopapillary ependymoma with multiple recurrence and cerebrospinal dissemination: a case report and literature review.
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research SocietyMyxopapillary Ependymoma of Lumbar Soft Tissue: A Case Report With Gene Expression Evaluation.
International journal of surgical pathologyMetastases of spinal myxopapillary ependymoma: unique characteristics and clinical management.
Journal of neurosurgery. SpineAn Extremely Rare Case of Back and Hip Pain due to the Metastasis of Late Recurrent Myxopapillary Ependymoma to the Inguinal Lymph Node.
Journal of pathology and translational medicineOccipital Intraparenchymal Myxopapillary Ependymoma: Case Report and Literature Review.
Asian journal of neurosurgery[Presacral lesion at the rima ani].
Der PathologeYou're the Flight Surgeon.
Aerospace medicine and human performanceSolitary aneurysm of the filum terminale artery: A case report and review of the literature.
Surgical neurology internationalSpinal myxopapillary ependymoma presenting with low back pain and subarachnoid hemorrhage.
Journal of neurosurgical sciencesCharacterization of gliomas: from morphology to molecules.
Virchows Archiv : an international journal of pathologyBenign ependymoma with extensive intracranial and spinal cerebrospinal fluid dissemination: case report and literature review.
British journal of neurosurgeryAnaplastic myxopapillary ependymoma in an infant: Case report and literature review.
Intractable & rare diseases researchPrimary Seeding of Myxopapillary Ependymoma: Different Disease in Adult Population? Case Report and Review of Literature.
World neurosurgeryOutcome Analysis in Cases of Spinal Conus Cauda Ependymoma.
Journal of clinical and diagnostic research : JCDRSpinal myxopapillary ependymoma with interval drop metastasis presenting as cauda equina syndrome: case report and review of literature.
Journal of spine surgery (Hong Kong)Associações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Ependimoma mixopapilar.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Ependimoma mixopapilar
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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.
- Case Report: Molecular diagnostics and clinical courses of two adult spinal pilocytic astrocytoma long-term survivors with GTF2I::BRAF fusion.
- Surgical treatment of myxopapillary ependymoma: an institutional case series of 56 patients.
- Ependymal Tumors.
- Maternal Neurosurgical Management of Central Nervous System Tumors During Pregnancy: A Case Series with Long-Term Offspring Neurodevelopmental Follow-Up.
- Retraction: Spinal myxopapillary ependymoma with anaplastic features: A case report and review of the literature.
- Clinical and Magnetic Resonance Features of Spinal Myxopapillary Ependymoma.
- A 35-Year-Old Female with Papilledema and Spinal Tumor.
- Radiological analysis correlated with neurological outcomes following resection of myxopapillary ependymoma: patient series.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:251643(Orphanet)
- MONDO:0016699(MONDO)
- GARD:10633(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q9380593(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
