Raras
Buscar doenças, sintomas, genes...
Síndrome de linfangioendoteliomatose multifocal-trombocitopenia
ORPHA:464321CID-10 · D18.1DOENÇA RARA

O alelo de tipo selvagem MALT1 humano está localizado nas proximidades de 18q21 e tem aproximadamente 79 kb de comprimento. Este alelo, que codifica a proteína do gene 1 da translocação do linfoma do tecido linfóide associado à mucosa, desempenha um papel na modulação da cascata de sinalização do complexo B do fator nuclear kappa. O gene está envolvido em uma translocação cromossômica t(11;18)(q21;q21) com o gene BIRC2 em linfomas de tecido linfóide associados à mucosa.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

O alelo de tipo selvagem MALT1 humano está localizado nas proximidades de 18q21 e tem aproximadamente 79 kb de comprimento. Este alelo, que codifica a proteína do gene 1 da translocação do linfoma do tecido linfóide associado à mucosa, desempenha um papel na modulação da cascata de sinalização do complexo B do fator nuclear kappa. O gene está envolvido em uma translocação cromossômica t(11;18)(q21;q21) com o gene BIRC2 em linfomas de tecido linfóide associados à mucosa.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Infancy
+ neonatal
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: D18.1
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Entender a doença

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
5 sintomas
🫃
Digestivo
5 sintomas
🫁
Pulmão
3 sintomas
🦴
Ossos e articulações
3 sintomas
❤️
Coração
3 sintomas
👁️
Olhos
2 sintomas

+ 18 sintomas em outras categorias

Características mais comuns

90%prev.
Morfologia anormal da pele
Muito frequente (99-80%)
90%prev.
Trombocitopenia
Muito frequente (99-80%)
90%prev.
Morfologia vascular anormal
Muito frequente (99-80%)
90%prev.
Hemorragia gastrointestinal
Muito frequente (99-80%)
90%prev.
Anormalidade morfológica do trato gastrointestinal
Muito frequente (99-80%)
55%prev.
Placa eritematosa
Frequente (79-30%)
46sintomas
Muito frequente (5)
Frequente (5)
Ocasional (21)
Muito raro (15)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 46 características clínicas mais associadas, ordenadas por frequência.

Morfologia anormal da peleAbnormal skin morphology
Muito frequente (99-80%)90%
TrombocitopeniaThrombocytopenia
Muito frequente (99-80%)90%
Morfologia vascular anormalAbnormal vascular morphology
Muito frequente (99-80%)90%
Hemorragia gastrointestinalGastrointestinal hemorrhage
Muito frequente (99-80%)90%
Anormalidade morfológica do trato gastrointestinalMorphological abnormality of the gastrointestinal tract
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2025111 papers
Linha do tempo
2026Hoje · 2026🧪 2007Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome de linfangioendoteliomatose multifocal-trombocitopenia

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

1 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Progressive multifocal leucoencephalopathy as a rare complication of anti-synthetase syndrome associated with immunosuppressive therapy.

BMJ case reports2026 Mar 19

We present the case of a woman in her late 50s with anti-synthetase syndrome who developed progressive multifocal leucoencephalopathy (PML), a rare and potentially fatal complication of immunosuppressive therapy. She was admitted with transient left-sided paraesthesia, left hand weakness and incoordination, and intermittent blurry vision, initially suspected to be a cerebrovascular event. Imaging revealed multifocal subcortical white matter lesions, and brain biopsy confirmed PML. Notably, she had been treated with mycophenolate mofetil and low-dose prednisolone, without rituximab. Her symptoms improved following the cessation of immunosuppressive therapy. This case highlights the importance of considering PML in immunosuppressed patients presenting with neurological symptoms, even in the absence of monoclonal antibody exposure, and suggests a possible association with conventional immunosuppressive therapy, although causality cannot be established from a single observation.

#2

Epilepsy in pediatric patients with PTEN hamartoma tumor syndrome: First step in recommendations for clinical management.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society2026 Mar 09

PTEN Hamartoma Tumor Syndrome (PHTS) is an autosomal dominant syndrome caused by a mutation in the PTEN gene. Previous studies have suggested an association between PHTS and epilepsy, but the clinical characteristics of epilepsy in PHTS remain unknown. This study aims to expand knowledge of epilepsy in PHTS and provide insights into its clinical features. A retrospective observational study was conducted at the Radboud University Medical Center, including 149 patients with clinically or genetically confirmed PHTS. Electronic patient records were reviewed for baseline characteristics, epileptic features, therapeutic interventions, and neuroimaging results. A cumulative risk analysis for developing epilepsy was performed. The prevalence of epilepsy among PHTS patients in this cohort was found to be 6%, with an estimated PHTS prevalence of 1:20 000 in the Netherlands. Autism spectrum disorder (ASD) was significantly associated with an increased risk of developing epilepsy (p = 0.002). A range of seizure semiologies was observed, with focal epilepsy being the most common, presenting as focal seizures with impaired awareness. EEG results predominantly showed (multi)focal discharges with variable localization. MRI abnormalities did not correlate with epileptic foci on EEG. This study highlights the clinical characteristics of epilepsy in pediatric patients with PHTS. Follow-up should include monitoring for characteristics of focal epilepsy, with EEG utilized selectively when such episodes are observed, rather than as a routine screening measure. Treatment strategies should be individualized based on the patient's characteristics. In cases of epilepsy, MRI is recommended to identify potential structural malformations amenable to surgical intervention.

#3

Fulminant Amyloid β-Related Angiitis With Herniation and Rapid Response to Tocilizumab: A Case Report.

Neurology(R) neuroimmunology &amp; neuroinflammation2026 May

Amyloid β-related angiitis (ABRA) is a rare, inflammatory vasculopathy resulting from intravascular amyloid deposition. We describe a refractory presentation of ABRA and its response to tocilizumab. Single-patient, biopsy-confirmed ABRA with serial MRI and clinical outcomes. Treatments included high-dose IV methylprednisolone, hyperosmolar therapy, cyclophosphamide, and escalation to tocilizumab. A 70-year-old woman presented with seizure and focal deficits. Initial MRI showed multifocal subcortical T2/FLAIR hyperintensities with cortical microhemorrhages without enhancement. Despite steroids, interval imaging showed progressive vasogenic edema, new leptomeningeal enhancement, and rising microhemorrhage burden. She developed severe headache and worsening hemiparesis; CT/MRI demonstrated marked edema with subfalcine/uncal herniation. Biopsy confirmed ABRA. Edema did not improve with steroids, maximal hyperosmolar therapy, or cyclophosphamide. After tocilizumab, MRI within 48 hours showed reduced edema and midline shift with near-resolution of sulcal enhancement; hemiparesis markedly improved without hemicraniectomy. We expand the phenotypic spectrum of ABRA by presenting a herniation syndrome associated with fulminant disease and a clear clinicoradiographic natural history. The precipitous progression of microhemorrhage accrual suggests a pathophysiologically distinct mechanism of disease from cerebral amyloid angiopathy-related inflammation. IL-6 receptor blockade was associated with rapid clinical and radiographic improvement and stabilization, supporting prospective evaluation of tocilizumab in amyloid-related neuroinflammatory disorders.

#4

Rapidly progressive varicella zoster virus vasculopathy in a chemotherapy- and steroid-immunosuppressed patient with refractory diffuse large B-cell lymphoma: diagnostic and therapeutic challenges.

Blood research2026 Mar 06

Varicella zoster virus (VZV) vasculopathy is a rare but severe neurological complication that frequently results in a reversible cerebral vasoconstriction syndrome (RCVS). Diagnosis is often delayed because early manifestations are nonspecific and radiologic findings often overlap with those of other cerebrovascular disorders. We describe the fatal case of a heavily pretreated 60-year-old man with refractory diffuse large B-cell lymphoma undergoing evaluation for chimeric antigen receptor (CAR) T-cell therapy. The patient developed multifocal intracranial arterial stenosis and an acute infarction during chemotherapy-induced immunosuppression. The initial radiological features suggested RCVS; however, cerebrospinal fluid (CSF) analysis using polymerase chain reaction (PCR) and anti-IgG antibodies confirmed the presence of VZV. Despite intravenous acyclovir and high-dose corticosteroids, the vasculopathy progressed rapidly, resulting in recurrent infarctions, seizures, and death. This case highlights the diagnostic complexity of VZV vasculopathy in immunocompromised patients and underscores the importance of early CSF evaluation, heightened clinical vigilance for opportunistic viral complications, and the potential diagnostic value of vessel wall magnetic resonance imaging (MRI) in differentiating VZV vasculopathy from mimicking conditions such as RCVS.

#5

Reversible cerebral vasoconstriction syndrome in psychiatric settings: Context-dependent diagnostic bias and consultation-liaison psychiatry practice.

PCN reports : psychiatry and clinical neurosciences2026 Mar

Reversible cerebral vasoconstriction syndrome (RCVS) is a potentially life-threatening neurological condition characterized by thunderclap headaches and multifocal cerebral arterial vasoconstriction resolving within 3 months. Context-dependent diagnostic bias in psychiatric settings may delay recognition of life-threatening conditions including RCVS. A 52-year-old Japanese woman with bipolar II disorder stable on lithium developed recurrent thunderclap headaches 9 days after mild COVID-19 infection. Headaches were consistently triggered by hot showers, reached maximal intensity within seconds, and were described as the worst headache of her life. Initial neurosurgical evaluation included non-contrast head CT but attributed symptoms to tension-type headache without vascular imaging. The patient, dissatisfied with this explanation, sought re-evaluation through our psychiatry outpatient clinic. Psychiatric consultation identified characteristic RCVS features, prompting urgent referral to a headache specialist. Magnetic resonance angiography on Day 31 revealed multifocal segmental vasoconstriction confirming RCVS. Calcium channel blocker treatment led to complete symptom resolution with radiological resolution confirmed at Day 100. This case illustrates how context-dependent diagnostic bias can dangerously delay RCVS recognition in psychiatric settings. Thunderclap headache warrants immediate neuroimaging regardless of psychiatric comorbidity. Psychiatric consultation enabled appropriate diagnosis through collaborative evaluation with specialist neurology, underscoring the essential role of consultation-liaison psychiatry at the medical-psychiatric interface.

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[Opsoclonus-myoclonus-ataxia syndrome associated with St Louis virus infection in Argentina].

Medicina
2025

Bilateral Foveal Cysts in Mucopolysaccharidosis Type I (Hurler Syndrome): Response to Acetazolamide With Insights From Multimodal Retinal Imaging and Electrophysiology.

Case reports in ophthalmological medicine
2025

Case Report: Compound heterozygous KCTD7 variants in two siblings presenting with myoclonic epilepsy and ataxia.

Frontiers in neuroscience
2025

Case Report: A Chinese woman with primary Sjögren's syndrome presented with simultaneous involvement of the cerebral and coronary arteries as initial symptoms.

Frontiers in immunology
2026

The triglyceride-glucose body mass index paradox: dual metabolic effects on tumor aggressiveness and recurrence risk in 11 317 papillary thyroid carcinoma patients.

International journal of surgery (London, England)
2025

[Epileptic encephalopathy associated with a mutation in the KCNT1 gene].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2025

Clinical Spectrum and One-Year Outcomes of Central Nervous System Vasculitis Secondary to Systemic Autoimmune Disorders: A Retrospective Cohort Study.

Cureus
2026

Idiopathic Multifocal Choroiditis/Punctate Inner Choroidopathy as a Secondary Inflammatory Reaction to Lacquer Cracks: A Structural and Temporal Analysis.

American journal of ophthalmology
2026

Clinical Utility of Serum Neurofilament Light Chain in Peripheral Neuropathy.

Muscle &amp; nerve
2025

Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review.

Frontiers in neurology
2025

Acute necrotising pancreatitis in a patient with Behçet's disease.

BMJ case reports
2025

Early risk factors for acute chest syndrome in sickle cell anemia: A pediatric study.

PloS one
2025

Unveiling Infantile Hemangiomas: A Comprehensive Study of Patterns, Presentations, and Complications.

Dermatology practical &amp; conceptual
2026

Epidemiology of Neuralgic Amyotrophy-A Retrospective Analysis of Data From a Large German Health Insurance Company.

Muscle &amp; nerve
2025

Connective tissue nevi: A case report of a uniquely presenting eyelid collagenoma.

American journal of ophthalmology case reports
2025

[Genetic and clinical characteristics in epilepsy patients with ATP6V1A gene variants].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2025

Progressive multifocal leukoencephalopathy in a young adult with DOCK8 deficiency: a case of JC virus reactivation in primary immunodeficiency.

Journal of neurovirology
2025

Progressive multifocal diffusion-weighted imaging hyperintensities in sporadic Creutzfeldt-Jakob disease with positive cerebrospinal fluid real-time quaking-induced conversion: a case report.

Journal of medical case reports
2025

Delayed treatment and diagnostic challenges in differentiating multifocal acquired demyelinating sensory and motor neuropathy from lupus: a case report and literature review.

AME case reports
2025

Progressive Multifocal Leukoencephalopathy as the Initial Presentation of Undiagnosed HIV Infection: A Case Report.

Cureus
2025

DRESS syndrome with cerebral vasculitis provoked by piperacillin/tazobactam: a case report.

Acta neurologica Belgica
2025

Paraneoplastic Central and Peripheral Demyelination Secondary to Oesophagus Malignancy: A Case Report.

Cureus
2025

Bilateral ampiginous choroiditis after COVID-19: a report of two cases.

Romanian journal of ophthalmology
2026

Sequential multimodal imaging of varicella-zoster virus-associated acute retinal necrosis: Insights supporting a neurotropic hypothesis.

European journal of ophthalmology
2026

Systemic toxoplasmosis in weaned pigs in Pennsylvania, USA, with a brief review of the literature.

Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc
2025

Bilateral multiple evanescent white dot syndrome documented and followed by swept-source OCT angiography: a case report.

Journal of ophthalmic inflammation and infection
2025

Hemophagocytic lymphohistiocytosis of the ocular adnexal mimicking orbital cellulitis in a patient with unknown X-linked lymphoproliferative syndrome type 1 (XLP1): Case report and literature review.

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society
2025

CAR T cells for multiple sclerosis: Engineering T cells to disrupt chronic B cell-driven neuroinflammation.

Multiple sclerosis and related disorders
2025

A novel KIDINS220 mutation associated with hereditary spastic paraplegia accompanied by severe peripheral neuropathy.

Frontiers in neuroscience
2025

Neuromodulation for Multifocal Pain: Successful Use of Spinal Cord Stimulation in Lumbar Spine Pain and Chronic Pancreatitis.

Orthopedic reviews
2025

MEPPC Syndrome: A Systematic Review and State-of-the-Art Paper.

Circulation. Arrhythmia and electrophysiology
2025

Multisystem Infantile Hemangiomatosis with Cutaneous, Hepatic, and Splenic Involvement.

Pediatric reports
2026

Nerve Ultrasound in Pediatric Polyneuropathies: A Systematic Review.

Neuropediatrics
2025

Case Report: Unraveling clinical heterogeneity in DEPDC5-related epilepsy: a genotype-phenotype correlation study in eight pediatric cases.

Frontiers in neuroscience
2025

Defining the role of systemic autoimmune markers in adult epilepsy: A focus on autoimmune-associated epilepsy.

Epilepsia open
2025

Functional shoulder girdle reconstruction in paediatric desmoid tumour.

Journal of surgical case reports
2025

The spectrum of pediatric acute leukoencephalopathy with restricted diffusion presenting as febrile infection-related refractory epilepsy syndrome.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2025

SAPHO Syndrome Misdiagnosed as Spinal Infection: A Case Series.

International medical case reports journal
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Paradoxical Progressive Multifocal Leukoencephalopathy With Immune Reconstitution Inflammatory Syndrome in a Patient With AIDS: A Case Report.

Cureus
2025

Clinical and genetic analysis of Majeed syndrome caused by LPIN2 complex heterozygous mutation and literature review.

Frontiers in pediatrics
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Selective peripheral neurotomy for multifocal spasticity: Two-dimensional operative video.

Surgical neurology international
2026

AI-Driven Optical Coherence Tomography Biomarkers for Choroidal Neovascularization Assessment in Punctate Inner Choroidopathy and Multifocal Choroiditis.

American journal of ophthalmology
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Invasive breast carcinoma in a patient with PHTS: a case report.

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2025

Progressive multifocal leukoencephalopathy recrudescence in an autoimmune hepatitis flare.

BMJ case reports
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Atypical Manifestation of Disseminated Gastrointestinal Kaposi Sarcoma in a Newly Diagnosed HIV Patient: A Case Report.

Case reports in gastrointestinal medicine
2025

Klebsiella pneumoniae Invasive Syndrome without Liver Abscess: A Case Report.

The American journal of case reports
2025

From stroke workup to mitochondrial disease: A case report of MELAS.

Radiology case reports
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Molecular profiling in paediatric hepatocellular adenomas: phenotypic correlations and clinical significance.

Histopathology
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Retinal Capillary Haemangioblastoma: Clinical Spectrum, Imaging Insights, and Treatment Strategies.

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2025

Isolated Central Nervous System FHL3 in an Asian Pediatric Patient: A Case Report and Literature Review.

Journal of inflammation research
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Bilateral Cluster Headache-like Attack as a Manifestation of Reversible Cerebral Vasoconstriction Syndrome Following Carotid Artery Stenting: A Case Report.

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2025

Stomal Hyperflow and Intestinal Failure: A Case Report on the Use of a Chyme Reinstillation Device.

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2026

Belzutifan for HIF2A-Related Pheochromocytoma and Paraganglioma: A Retrospective Study of Real-World Data.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists
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Idiopathic hypereosinophilic syndrome in a female Sprague Dawley rat.

Laboratory animals
2025

Reversible Cardio-Renal-Cerebral Syndrome in a Dog: A Case Report.

Journal of veterinary internal medicine
2025

DKA with negative DM-autoantibodies, complicated by GBS and RESLES: a case report and literature review.

Frontiers in immunology
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Histopathological patterns in meralgia paraesthetica: insights from lateral femoral cutaneous nerve neurectomies.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
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Comparison of SZ-HRX and LEHR collimators for reduced-duration 123I-ioflupane brain SPECT/CT: a phantom study.

EJNMMI physics
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IRIS without PML in MS patients - a case report of IRIS after past alemtuzumab therapy with subsequent oral cladribine treatment and review of the literature.

Annals of agricultural and environmental medicine : AAEM
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Eosinophilic Fasciitis in a 78-Year-Old Man Following Pembrolizumab Treatment for Bladder Cancer.

The American journal of case reports
2025

Disseminated Mycobacterium kansasii disease complicating Talaromyces marneffei infection in patient with anti-IFN-γ autoantibodies: a case report.

BMC infectious diseases
2025

Cholesterol Embolization Syndrome Presenting with Multifocal Cerebral Infarction After Thoracic Endovascular Aortic Repair: A Case Report.

Journal of clinical medicine
2025

Clinical, Bone Mineral Density and Spinal Remodelling Responses to Zoledronate Treatment in Chronic Recurrent Multifocal Osteomyelitis.

Diagnostics (Basel, Switzerland)
2025

Pituitary Abscess Syndrome in Ruminants: Nine Cases.

Animals : an open access journal from MDPI
2025

Continuous spinal anesthesia in a case of Eisenmenger syndrome undergoing TURBT- A case report.

Saudi journal of anaesthesia
2025

Successful treatment of HIV-related progressive multifocal leukoencephalopathy and immunological reconstitution inflammatory syndrome with intravenous human immunoglobulin: a case report.

AIDS research and therapy
2025

Epilepsy due to a MED25 Homozygous Pathogenic Founder Variant.

Journal of child neurology
2026

Clinicopathological and molecular characterization of seven rare cases of renal cell carcinoma with hemangioblastoma-like features: Expanding the morphological spectrum of renal tumours with tuberous sclerosis complex/mammalian target of rapamycin mutations.

Histopathology
2025

Fumarate hydratase-deficient renal cell carcinoma: high intratumoral and peritumoral CD4-positive T cell infiltration density and high PD-L1 expression.

World journal of urology
2025

Lance-Adams syndrome or chronic post-hypoxic myoclonus in adults: a systematic literature review.

Brain communications
2025

Distinguishing Progressive Multifocal Leukoencephalopathy From Cerebral Toxoplasmosis in HIV: A Case Report.

Cureus
2025

Progressive multifocal leukoencephalopathy as a rare first manifestation of AIDS: case report.

Postepy psychiatrii neurologii
2025

A thyroid storm causing strokes and unmasking moyamoya.

Radiology case reports
2025

Late-Onset Combined Immunodeficiency presenting with Progressive Multifocal Leukoencephalopathy and associated Immune Reconstitution Inflammatory Syndrome.

Le infezioni in medicina
2025

Acute necrotizing encephalopathy in a young adult triggered by adenovirus: a rare etiology of a devastating neurological syndrome.

International journal of emergency medicine
2025

The changing landscape of primary autoimmune neuropathies.

Nature reviews. Neurology
2025

Dramatic multifocal osteosarcoma treatment response in the setting of POT1 tumor predisposition syndrome.

Cancer genetics
2025

Extensive venolymphatic involvement in infantile Klippel-Trenaunay syndrome: A rare case from Ethiopia.

Radiology case reports
2025

DICER1-Related Pediatric Thyroid Neoplasm with Follicular and Morular Growth: A Tumor that Did Not Read the Textbook.

Endocrine pathology
2025

Severe Combined Immunodeficiency in the Newborn Period.

NeoReviews
2025

Imatinib For Treatment of Multifocal Maxillofacial Giant Cell Lesions: A Case Series.

Journal of pediatric hematology/oncology
2025

Pathogenicity difference analysis of novel duck reovirus NY01 between in semi-muscovy duck and shelduck.

Poultry science
2025

Acute Pancreatitis-Associated Thrombotic Venopathy.

Cureus
2025

Relentless Placoid Chorioretinitis: A Differential Diagnosis and Management Approach in a Challenging Case.

Cureus
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Acute Posterior Multifocal Placoid Pigment Epitheliopathy: Clinical and Iconographical Aspects of Two Cases.

Cureus
2025

Synchronous giant bilateral renal tumors as initial presentation of Von Hippel-Lindau disease: Sequential surgical management and transition to renal replacement therapy.

Urology case reports
2025

An interpretable machine learning approach for predicting drug-resistant epilepsy in children with tuberous sclerosis complex.

Frontiers in neurology

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Doenças relacionadas

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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.

  1. Progressive multifocal leucoencephalopathy as a rare complication of anti-synthetase syndrome associated with immunosuppressive therapy.
    BMJ case reports· 2026· PMID 41856693mais citado
  2. Epilepsy in pediatric patients with PTEN hamartoma tumor syndrome: First step in recommendations for clinical management.
    European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society· 2026· PMID 41825102mais citado
  3. Fulminant Amyloid &#x3b2;-Related Angiitis With Herniation and Rapid Response to Tocilizumab: A Case Report.
    Neurology(R) neuroimmunology &amp; neuroinflammation· 2026· PMID 41791017mais citado
  4. Rapidly progressive varicella zoster virus vasculopathy in a chemotherapy- and steroid-immunosuppressed patient with refractory diffuse large B-cell lymphoma: diagnostic and therapeutic challenges.
    Blood research· 2026· PMID 41790173mais citado
  5. Reversible cerebral vasoconstriction syndrome in psychiatric settings: Context-dependent diagnostic bias and consultation-liaison psychiatry practice.
    PCN reports : psychiatry and clinical neurosciences· 2026· PMID 41769064mais citado
  6. Postpartum reversible cerebral vasoconstriction syndrome: a rare but severe cause of postpartum headache.
    BMJ Case Rep· 2026· PMID 41644200recente
  7. MEPPC Syndrome: A Systematic Review and State-of-the-Art Paper.
    Circ Arrhythm Electrophysiol· 2025· PMID 41159261recente
  8. Klebsiella pneumoniae Invasive Syndrome without Liver Abscess: A Case Report.
    Am J Case Rep· 2025· PMID 41084227recente
  9. Noninfectious Uveitis Syndromes.
    Adv Exp Med Biol· 2025· PMID 40736853recente
  10. A Case of Postpartum Reversible Cerebral Vasoconstriction Syndrome with Extracranial Artery Involvement.
    Acta Neurol Taiwan· 2025· PMID 40434843recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:464321(Orphanet)
  2. MONDO:0018735(MONDO)
  3. GARD:10467(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q16940237(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

Síndrome de linfangioendoteliomatose multifocal-trombocitopenia
Compêndio · Raras BR

Síndrome de linfangioendoteliomatose multifocal-trombocitopenia

ORPHA:464321 · MONDO:0018735
Prevalência
Unknown
Herança
Not applicable
CID-10
D18.1 · Linfangioma de qualquer localização
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C5575322
Repurposing
2 candidatos
avatrombopagthrombopoietin receptor agonist
eltrombopag
Wikidata
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