A doença de Moyamoya (MMD) é uma arteriopatia intracraniana rara que envolve estenose progressiva da vasculatura cerebral localizada na base do cérebro, causando ataques isquêmicos transitórios ou acidentes vasculares cerebrais.
Introdução
O que você precisa saber de cara
A doença de Moyamoya (MMD) é uma arteriopatia intracraniana rara que envolve estenose progressiva da vasculatura cerebral localizada na base do cérebro, causando ataques isquêmicos transitórios ou acidentes vasculares cerebrais.
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
+ 33 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 66 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
Genes associados
6 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, X-linked recessive.
Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers (By similarity). Binds to the barbed end of the actin filament and slows down actin polymerization and depolymerization (By similarity). Required for cytokinesis, and transcriptional activation of the serum response factor (By similarity). DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics (By similarity). Functions as a
Cell membraneCell projection, ruffle membraneCytoplasm, cytoskeletonCytoplasm, cytoskeleton, microtubule organizing center, centrosomeCytoplasm, cytoskeleton, spindleCytoplasmNucleus
Deafness, autosomal dominant 1, with or without thrombocytopenia
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Patients may have mild thrombocytopenia and enlarged platelets, although most of DFNA1 affected individuals do not have significant bleeding tendencies.
Metalloprotease that specifically cleaves 'Lys-63'-linked polyubiquitin chains (PubMed:19214193, PubMed:20656690, PubMed:24075985, PubMed:26344097). Does not have activity toward 'Lys-48'-linked polyubiquitin chains (PubMed:19214193, PubMed:20656690, PubMed:24075985, PubMed:26344097). Component of the BRCA1-A complex, a complex that specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damag
NucleusCytoplasmCytoplasm, cytoskeleton, spindle pole
Cytoplasm
Moyamoya disease 6 with or without achalasia
A form of Moyamoya disease, a progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. MYMY6 is characterized by severe cerebral angiopathy and onset of severe achalasia in infancy or early childhood.
Calcium-activated chloride channel (CaCC) (PubMed:20056604, PubMed:22178883, PubMed:22946059, PubMed:32487539). Plays a role in transepithelial anion transport and smooth muscle contraction. Required for the normal functioning of the interstitial cells of Cajal (ICCs) which generate electrical pacemaker activity in gastrointestinal smooth muscles. Acts as a major contributor to basal and stimulated chloride conductance in airway epithelial cells and plays an important role in tracheal cartilage
Apical cell membranePresynapse
Intestinal dysmotility syndrome
An autosomal recessive disorder characterized by impaired intestinal peristalsis, recurrent episodes of haemorrhagic diarrhea, and distention of intestinal loops. Intestinal and hepatic portal venous gas, dysmorphic features, and developmental delay may also be present.
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells
Cytoplasm, cytoskeleton
Atypical E3 ubiquitin ligase that can catalyze ubiquitination of both proteins and lipids, and which is involved in various processes, such as lipid metabolism, angiogenesis and cell-autonomous immunity (PubMed:21799892, PubMed:26126547, PubMed:26278786, PubMed:26766444, PubMed:30705059, PubMed:32139119, PubMed:34012115). Acts as a key immune sensor by catalyzing ubiquitination of the lipid A moiety of bacterial lipopolysaccharide (LPS) via its RZ-type zinc-finger: restricts the proliferation of
Cytoplasm, cytosolLipid droplet
Moyamoya disease 2
A progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults.
Variantes genéticas (ClinVar)
478 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 145 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
25 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)
🇧🇷 Atendimento SUS — Doença de Moyamoya
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 3.103
Mode of Birth and Stroke Risk After Childbirth Among Women With Moyamoya Disease.
There is limited large-scale evidence to guide the optimal mode of birth for patients with moyamoya disease (MMD). To evaluate whether the mode of birth (cesarean vs vaginal) is associated with stroke risk after childbirth for women with MMD. This cohort study evaluated stroke outcomes up to 3 years after childbirth. A nationwide, population-based analysis was performed using data from the Health Insurance Review and Assessment Service of South Korea. Individuals with MMD from January 1, 2002, to December 31, 2023 were identified. Among 31 750 patients, those with birth-related procedure codes were selected. The study population was restricted to women aged 19 to 49 years, and those with a diagnosis of malignant neoplasm within 3 years before the index date (date of childbirth) were excluded. Data were analyzed from June 11 to September 8, 2025. Mode of birth. The primary outcome was any stroke, defined as a composite of ischemic or hemorrhagic stroke. Secondary outcomes included ischemic stroke, hemorrhagic stroke, and transient ischemic attack. Of 1683 women analyzed (mean [SD] age, 33.6 [7.8] years), 1077 (64.0%) had cesarean births, and 606 (36.0%) had vaginal births. Post partum (3 months), any stroke incidence was 63.49 and 33.33 per 1000 person-years for cesarean and vaginal births, respectively. Multivariable analyses showed no significant risk differences for any stroke by birth mode at 3 months (adjusted hazard ratio [aHR], 0.71 [95% CI, 0.26-1.97]; P = .52) or 3 years (aHR, 0.90 [95% CI, 0.55-1.47]; P = .67). A significant interaction was observed between the mode of birth and the clinical onset type of MMD for the risk of any stroke (interaction P = .04 after Bonferroni correction); the adjusted HR for vaginal vs cesarean birth was 0.10 (95% CI, 0.01-0.79) in the asymptomatic or nonvascular onset subgroup, 1.49 (95% CI, 0.73-3.03) in the ischemic onset subgroup, and 0.94 (95% CI, 0.50-1.77) in the hemorrhagic onset subgroup. Notably, stroke incidence peaked in the early postpartum period (≤6 months: 35.7 per 1000 person-years), decreased at 1 year, and thereafter remained at a similar level. In this cohort study of women with MMD, MMD itself was not found to be an absolute indication for cesarean birth; birth planning should be individualized based on obstetric factors and clinical onset type rather than routine preference for cesarean birth. In addition, vigilant monitoring and preventive strategies during the early postpartum period are warranted.
Understanding stroke risk phenotypes in pediatric patients with sickle cell disease and concurrent moyamoya arteriopathy: insights from 61 cases at a single institution.
Children with sickle cell disease (SCD) are at risk of developing cerebral vasculopathies, increasing the risk of stroke. While some vasculopathies are medically managed, surgical revascularization might be needed in patients who also have moyamoya arteriopathy (MMA). The aim of this study was to characterize stroke timing and phenotype between children with homozygous SCD (HbSS) alone and those with HbSS and concurrent MMA. A retrospective review of clinical and radiological information for pediatric patients (age < 21 years) with HbSS and cerebrovascular sequelae at a single institution (1997-2021) was conducted. Cerebrovascular sequelae included stroke, transient ischemic attack, elevated transcranial Doppler velocities, MMA, or other cerebral vessel stenosis. Patients with HbSS and MMA (HbSS/MMA group) were compared with patients with HbSS alone (HbSS group). Sixty-one children with HbSS were included; 35 had HbSS and MMA. Thirty-one patients in the HbSS/MMA group underwent surgical revascularization. The remaining patients were medically managed with chronic transfusion, hydroxyurea, and/or stem cell transplant. The incidence of first stroke detected on surveillance imaging peaked at 4-9 years of age for the HbSS group and 3-8 years for the HbSS/MMA group (p = 0.47). Children with concurrent MMA presented more often with symptomatic strokes (p < 0.05) and were diagnosed with MMA several years after their initial stroke (median 4.4, IQR 2.0-7.8). Although the HbSS and HbSS/MMA groups had a similar window of risk, children with HbSS and MMA had a higher stroke rate per person per year (0.15 vs 0.10). Children with HbSS and concurrent MMA have increased risk of stroke during early childhood relative to children with HbSS alone. Additionally, those with HbSS and MMA are at risk of delayed diagnosis after experiencing neurological deficit from symptomatic stroke. These findings represent an opportunity to optimize stroke prevention screening, targeting children as young as 3-8 years of age.
Unusual Synchronous Arbitrary-Gate Doppler Spectra Enable Intraoperative Hemodynamic Warning of Cerebral Hyperperfusion Syndrome on Moyamoya Disease.
Cerebral hyperperfusion syndrome (CHS) is a serious complication following revascularization in moyamoya disease (MMD) patients, yet reliable predictors remain scarce. This study aims to evaluate subcortical hemodynamics intraoperatively using a novel ultrasound imaging technique, synchronous arbitrary gate spectral Doppler (SAGSD), and to identify indicators associated with CHS. A total of thirty adult MMD patients undergoing revascularization were included. Intraoperative SAGSD imaging, conventional Doppler ultrasound, and indocyanine green videoangiography (ICG-VA) were performed to assess subcortical hemodynamics at multiple sites before and after anastomosis. All thirty patients underwent revascularization, and five of the six CHS patients exhibited a distinctive "mountain" sign on SAGSD, characterized by three or more discrete velocity peaks within a single cardiac cycle observed simultaneously across two or more sampling sites. The CHS patients showed a significant increase in velocity-time integral (VTI) change (median Δ + 0.48 cm [95% CI, 0.31 to 0.65], p < 0.001) post-anastomosis on SAGSD, while conventional Doppler showed no significant change in flow velocity (all p > 0.05). Notably, in CHS patients, ICG-VA showed no statistical difference in flow velocity, delay, and time to peak after anastomosis (all p > 0.05), whereas SAGSD demonstrated hemodynamic changes such as VTI (median Δ + 0.67 cm [95% CI, 0.43-0.90], p < 0.001) via Doppler spectrum. SAGSD enables highly sensitive, multi-position, and contrast-free hemodynamic evaluation of deep cerebral microvasculature. The "mountain" sign, a novel spectral morphology corroborated by quantitative VTI elevation, is a specific intraoperative biomarker strongly associated with CHS, offering a potential predictor for early intervention and improved surgical outcomes.
[Detection and Management of Asymptomatic Cerebrovascular Disease].
Asymptomatic carotid or intracranial arterial stenosis, silent brain infarction, cerebral white matter lesions, and cerebral microbleeds are well-established predictors of stroke. When these findings are detected through brain screening programs ("brain dock"), aggressive management of vascular risk factors is warranted. In cases of severe carotid stenosis, revascularization procedures such as carotid endarterectomy or carotid artery stenting may be considered. In East Asia, including Japan, genetic predisposition appears to play a significant role. The moyamoya disease-related RNF213 p.R4810K variant has been linked to intracranial arterial stenosis, and NOTCH3 variants are associated with an increased burden of white matter disease. Closer integration of screening programs and routine clinical care is expected to further enhance the value of brain dock.
[Pathophysiology and Outcome of Asymptomatic Moyamoya Disease].
The widespread use of non-invasive imaging techniques has increased the detection of asymptomatic Moyamoya disease. AMORE, a prospective study launched in 2012, suggests that asymptomatic cases can present with silent infarctions or hemorrhages and have a high risk of cerebrovascular events and disease progression. Thus, strict management of lifestyle-related diseases and regular follow-up imaging are essential. Antiplatelet agents should be used cautiously because of the risk of intracranial hemorrhage. The effectiveness of cerebral revascularization surgery remains unclear.
Publicações recentes
Intraoperative application of FFR pressure wire and FLOW800 imaging as predictors of postoperative cerebral perfusion abnormalities in Moyamoya disease.
Anesthetic Management of a Patient With Factor XIII Deficiency Undergoing Encephaloduroarteriosynangiosis (EDAS): A Case Report and Literature Review.
Iterative delay correction improves breath-hold cerebrovascular reactivity mapping in clinical populations.
Severe stenosis of major intracranial arteries: an important risk factor for infarction complications after combined revascularization in adult patients with ischemic moyamoya disease.
Ferulic acid promotes proliferation and angiogenesis of cerebral microvascular endothelial cells in Moyamoya disease via the SIRT1/HIF-1α/VEGF-A axis.
📚 EuropePMC4.019 artigos no totalmostrando 198
Subtype-specific risk patterns and asymptomatic progression in moyamoya disease: angiographic biomarkers for clinical stratification.
Journal of neurosurgeryMode of Birth and Stroke Risk After Childbirth Among Women With Moyamoya Disease.
JAMA network openUnderstanding stroke risk phenotypes in pediatric patients with sickle cell disease and concurrent moyamoya arteriopathy: insights from 61 cases at a single institution.
Journal of neurosurgery. PediatricsSulcal Hyperintense Vessel Sign (Vessel Wall Magnetic Resonance Ivy Sign) in Adult Moyamoya Disease: A High-Resolution Vessel Wall Imaging Study.
Stroke (Hoboken, N.J.)Unusual Synchronous Arbitrary-Gate Doppler Spectra Enable Intraoperative Hemodynamic Warning of Cerebral Hyperperfusion Syndrome on Moyamoya Disease.
CNS neuroscience & therapeuticsLetter: Effects of Scalp Nerve Block on Symptomatic Cerebral Hyperperfusion Syndrome After Combined Revascularization Surgery for Moyamoya Disease.
Journal of neurosurgical anesthesiology[Detection and Management of Asymptomatic Cerebrovascular Disease].
Brain and nerve = Shinkei kenkyu no shinpo[Pathophysiology and Outcome of Asymptomatic Moyamoya Disease].
Brain and nerve = Shinkei kenkyu no shinpoChemotherapy management of a pediatric B-ALL patient with moyamoya disease: a case report.
Frontiers in oncologyDeep learning and high-resolution magnetic resonance vascular wall imaging: current challenges and future perspectives.
Frontiers in neurologyPreliminary comparison of efficacy and safety between direct bypass surgery and endovascular recanalization therapy in adult ischemic moyamoya disease.
Frontiers in neurologyMOdulation-Guided ENcoding (MOGEN) Scheme for Vessel-Encoded Arterial Spin Labeling.
Magnetic resonance in medicineTransient ischemic attack after bee sting unmasking Moyamoya Angiopathy.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryValue of MR high-resolution vessel wall imaging in the Moyamoya-like collateral vessels diseases at the base of the brain.
MedicineMoyamoya disease in Latin America: A systematic literature review with an illustrative case.
Surgical neurology internationalBeyond Atrial Fibrillation: A Case of Thyrotoxicosis-Associated Ischemic Stroke in a Young Patient.
CureusOccipital Artery to Posterior Cerebral Artery Bypass for Adult Hemorrhagic Moyamoya Disease: 2-Dimensional Operative Video.
Operative neurosurgery (Hagerstown, Md.)Whole-Exome Sequencing Improves Risk Assessments of Adult Moyamoya Disease.
Journal of clinical neurology (Seoul, Korea)Genetic Biomarkers for Moyamoya Disease Beyond Angiography.
Journal of clinical neurology (Seoul, Korea)Differentially expressed circular RNA profile in hemorrhagic and ischemic moyamoya disease.
Biomedical reportsIntegrative GWAS and snRNA-seq Reveal a Mesenchymal-Like Endothelial Signature in Moyamoya Disease.
StrokeNeuropsychological aspects of the Moyamoya disease: A case report.
Applied neuropsychology. ChildA novel superficial temporal artery patency concept of cerebral revascularization for patients with moyamoya disease: a multicenter study.
Chinese neurosurgical journalPatient perspective on large-language model responses to questions about Moyamoya.
Acta neurochirurgicaHow Far Can we Go? Managing Moyamoya Syndrome in a 3-Year-Old With Thalassemia Major: A Rare Pediatric Case From Nepal.
Clinical case reportsIntraoperative Diabetes Insipidus as a Predictor of Postoperative Complications Following Revascularization in Moyamoya Disease: A Retrospective Cohort Study.
Current neurovascular researchMoyamoya disease beyond Japan and East Asia.
British journal of neurosurgeryMethodological considerations for preoperative hemorrhage risk stratification in pediatric moyamoya disease.
International journal of surgery (London, England)Non-aneurysmal Subarachnoid Hemorrhage in an Adult With Sickle Cell Anemia: A Case Report and Review of the Literature.
CureusUnique clinical and radiological features in patients with moyamoya disease under 4 years of age: a multicenter MACINTOSH Study in Japan.
Journal of neurosurgery. PediatricsMoyamoya Vasculopathy and Atypical Moyamoya-like Patterns: Insights into Diagnosis and Therapeutic Implications.
NeuroSciRisk Factors Influencing Disease Onset and Surgical Outcomes in Moyamoya Disease.
Journal of multidisciplinary healthcareSuperficial Temporal Artery to Middle Cerebral Artery (STA-MCA) bypass: How I do it.
Acta neurochirurgicaOral Contraceptive Use and Acute Ischemic Stroke Risk in Patients with Moyamoya Disease.
NMC case report journalDelineating the Genetic Basis of RNF213-related vasculopathies: The association of PKHD1 variants with bilateral cerebral vasculopathy.
European journal of human genetics : EJHGEffects of intravenous dexmedetomidine on hemodynamic stability, inflammatory factors, and brain injury biomarkers in patients with Moyamoya disease undergoing revascularization surgery.
American journal of translational researchHigh flow, at a higher cost? A pilot study comparing direct vs. indirect bypass for Moyamoya disease using time-driven activity-based costing.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaPASAformer: Cerebrovascular Disease Classification with Medical Prior-Guided Adapter and Pathology-Aware Sparse Attention.
IEEE journal of biomedical and health informaticsNeuropsychological correlates of moyamoya disease: A clinical case study.
The Clinical neuropsychologistResearch on the application of cerebral blood flow reconstruction technology in the surgical treatment of moyamoya disease.
Frontiers in surgeryArtificial intelligence for microembolic signal detection by transcranial Doppler in ischemic stroke: a mini-review.
Frontiers in neurologyAssociation of local collateral formation on TOF-MRA with plaque characteristics and ischemic stroke in intracranial atherosclerotic stenosis.
BMC medical imagingAngiographic outcomes after indirect revascularization in pediatric Moyamoya disease: a systematic review and Meta-analysis.
Neurosurgical reviewPresence of Collaterals from the Contralateral Hemisphere on Preoperative Angiogram Predicts Failure of Encephalo-Duro Arterio-Synangiosis (EDAS) in Adult Moyamoya Patients.
AJNR. American journal of neuroradiologyCortical venous redness as a semi-quantitative marker for predicting transient neurological events in adult moyamoya disease.
Neurosurgical reviewClinical Translation of Ultrasound Localization Microscopy: A Narrative Review of Current Applications and Future Directions.
Ultrasound in medicine & biologyIncreased burden of systemic hypertension among pediatric patients with moyamoya disease: a population-based analysis of prevalence and incidence.
Journal of neurosurgery. PediatricsThyrotoxicosis and Moyamoya Syndrome: A Fatal Intersection of Rare Disorders in a Young Patient With a Background of Hypothyroidism.
CureusCharacteristics of 3D pCASL parameters in patients with moyamoya disease and their predictive value for cognitive function after revascularization surgery.
Archives of physiology and biochemistrySingle-cell transcriptomic profiling of peripheral blood mononuclear cells reveals monocyte heterogeneity in patients with Moyamoya disease.
Orphanet journal of rare diseasesPreliminary analysis of long-term prognosis outcomes of modified extracranial-intracranial bypass reconstruction for adult ischemic moyamoya disease.
Scientific reportsAssessment of cerebrovascular reserve using acetazolamide brain perfusion SPECT in Moyamoya disease.
Asia Oceania journal of nuclear medicine & biologyPreoperative local hemodynamics predict cerebral hyperperfusion syndrome after direct bypass for moyamoya disease: a quantitative CTP study based on ASPECT topography.
Frontiers in neurologyThe AMORE Score for Predicting the 5-Year Risk of Hemorrhagic Stroke in Asymptomatic Moyamoya Disease.
Cerebrovascular diseases (Basel, Switzerland)Outcomes of bypass surgery in asymptomatic moyamoya angiopathy: A multicenter study with propensity-score weighting.
European stroke journalIdentifying a High-Risk Hemorrhagic Phenotype in Children With Moyamoya Disease.
NeurologyPediatric Hemorrhagic Moyamoya Disease: Clinical Course, Treatment, and Outcomes.
NeurologyIdentification and validation of CARS1 p.E712V and NF1 p.Q2002X in sporadic Moyamoya disease across 30 trio pedigrees.
NPJ genomic medicineRare Vertebrobasilar Involvement in Moyamoya Disease: A Case Report With Long-Term Imaging Follow-Up.
StrokeMagnetic resonance vessel wall imaging is superior to MRA in assessing the extent of vascular involvement in patients with moyamoya disease.
Polish journal of radiologyDeep learning reconstruction enhances 1.5T MR angiography beyond 3T in vascular visualization for Moyamoya disease.
Japanese journal of radiologyFamilial Moyamoya disease associated with dual RNF213 variants (R4810K and T1727M): A case report and genetic investigation.
MedicineRecovery of Intrinsic Cognitive Weakness in Successive Processing After Bypass Surgery for Pediatric Moyamoya Disease.
Stroke (Hoboken, N.J.)Persistent Periventricular Anastomosis Associated With Rebleeding After Bypass Surgery for Hemorrhagic Moyamoya Disease.
Stroke (Hoboken, N.J.)Sleep Disorders in Moyamoya Disease: Prevalence, Risk Factors, and Impact on Functional Outcomes.
Current neuropharmacologyMorphological characteristics of choroidal anastomosis as predictors of subsequent rupture in adult moyamoya disease: a longitudinal study using vessel wall imaging.
Journal of neurosurgeryCase Report: Relapsing systemic lupus erythematosus treated with dual rituximab and anifrolumab therapy.
Frontiers in medicineOutcomes of Bypass Surgery in Patients with Moyamoya Syndrome Secondary To Sickle Cell Disease: a Multicenter Study.
Translational stroke researchMoyamoya syndrome and persistent trigeminal artery: description of a case with Trisomy 21.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyApplication of Artificial Intelligence in the Diagnosis and Treatment of Moyamoya Disease: Current Status, Challenges, and Future Prospects.
The neurologistRevascularization in Pediatric Patients with Moyamoya Disease.
Turkish neurosurgeryVasospastic Angina (Coronary Spastic Angina) in the Left Main Trunk in a Patient With RNF213 p.R4810K Variant and a History of Moyamoya Disease.
Circulation journal : official journal of the Japanese Circulation SocietyPostoperative seizure, stroke, hemorrhage, and cerebral hyperperfusion syndrome rates in adult patients with moyamoya disease undergoing revascularization: a systematic review and proportional meta-analysis.
Neurosurgical reviewShort-TR Acquisition Time-of-flight MR Angiography with Deep Learning Reconstruction: Technical Feasibility and Initial Clinical Evaluation in Moyamoya Disease.
Magnetic resonance in medical sciences : MRMS : an official journal of Japan Society of Magnetic Resonance in MedicineRight posterior communicating artery aneurysm with multiple arterial stenoses and moyamoya disease: A case report.
The Journal of international medical researchCilostazol in a Child With Moyamoya Disease.
Journal of child neurologyTreatment Options for Patients With Moyamoya Disease: A Retrospective Cohort Study.
Revista de neurologiaOrganoid Modeling and Single-Cell Profiling Reveal Smooth Muscle Cell Migration in Moyamoya Disease.
Communications biologyEndothelial-Mesenchymal transition in cerebrovascular diseases: molecular mechanisms and promising pharmacological strategies.
Molecular biology reportsBone flap osteomyelitis following craniotomy in children: A 20-year audit.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryEvaluating the role of graft angle on cerebral hemodynamics following direct cerebral bypass for moyamoya disease.
PloS oneThe role of artificial intelligence in estimating stroke events in Moyamoya patients: A systematic review and meta-analysis of diagnostic test accuracy.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke AssociationMolecular and multimodal biomarkers in Moyamoya disease: from pathogenic mechanisms to clinical translation.
European journal of medical researchPost-translational modification gene signatures implicate FBXW7 in immune and vascular dysregulation of Moyamoya disease.
Frontiers in geneticsArterial spin labeling-ASPECTS and a conventional MRI-based nomogram for predicting prognosis after surgical revascularization in Moyamoya disease.
Frontiers in neurologyAssociation between trisomy 21 and 'puff of smoke' with an unusual presentation of transient ischaemic attack.
BMJ case reportsCorrelation Between Contrast-Enhanced Magnetic Resonance Vessel Wall Imaging and Cerebral Hemodynamic Reserve in Moyamoya Disease.
World neurosurgeryChoroid plexus enlargement correlates with cognitive dysfunction and disease progression in Moyamoya disease.
Neurosurgical reviewDistinct presentation of Moyamoya disease in Iran.
European journal of translational myologyRecurrent Depression With Catatonic Excitement in a Patient With Moyamoya Disease: A Case Report.
The journal of ECTDistinct impact of RNF213 p.R4810K genotype on transdural collateral formation across Japanese Asian and Polish Caucasian Moyamoya patients.
Neurosurgical reviewProgressive occlusion of the middle cerebral artery as the main feeder in a cerebral arteriovenous malformation: A case report.
Surgical neurology internationalSuccessful Bentall Surgery in a Moyamoya Disease Patient with Intraoperative Brain Protection via IABP-Induced Pulsatile Flow and CO2 Management during Cardiopulmonary Bypass.
Surgical case reportsSuccessful Clazosentan Therapy for Subarachnoid Hemorrhage after Coil Embolization of Ruptured Posterior Cerebral Artery Aneurysm in a Patient with Moyamoya Disease: A Case Report.
NMC case report journalIncidence of cerebral hyperperfusion syndrome following revascularization surgery in moyamoya patients: a systematic review and meta-analysis.
Neurosurgical reviewEmerging innovations in the management of pediatric moyamoya disease.
World journal of pediatrics : WJPIncreased plasma fibronectin mirrors intimal phenotypic switching of vascular smooth muscle cells in moyamoya arteriopathy.
Scientific reportsAnti-Caspr2 Encephalitis Co-occurring With Moyamoya Disease: A Pediatric Case Report and Literature Review.
Journal of child neurologyWhen Stroke Strikes Early: Unusual Causes of Intracerebral Hemorrhage in Young Adults.
Journal of clinical medicineContrasting Cerebral Hyperperfusion Patterns in Moyamoya Disease Versus Atherosclerotic Occlusive Cerebrovascular Disease: Insights From Day-One 99mTc-ECD SPECT After Revascularization.
Clinical nuclear medicineAdvancing Prediction of Cerebral Hyperperfusion Syndrome in Moyamoya Disease:: Standardization of Definitions, Imaging Modalities, and Risk Factors for Improved Clinical Outcomes.
Clinical nuclear medicinePrecision medicine in Moyamoya vasculopathy.
Current opinion in neurologyMulti-omics research on moyamoya disease: current perspectives and future directions.
Nutrition & metabolismChinese expert consensus on the treatment and diagnosis of moyamoya disease and moyamoya syndrome (2024).
Stroke and vascular neurologyObstetric and anesthetic management of parturients with intracranial neurovascular abnormalities.
Journal of anesthesiaST-Elevation Myocardial Infarction in a Young Man With Moyamoya Disease.
JACC. Case reportsCerebral hemodynamics and vascular dementia: Identifying opportunities for early intervention.
The Medical journal of MalaysiaMicroRNA-29b-3p promotes endothelial cell inflammation via NTRK2/PI3K/NLRP3 pathway in Moyamoya disease.
European journal of medical researchRegional disparities in cerebral perfusion and brain tissue microstructure damage in adult patients with Moyamoya syndrome.
Scientific reportsCharacteristics of sleep disturbance in Moyamoya disease.
Sleep medicine[Aneurysms associated with moyamoya angiopathy (clinical cases)].
Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko[Posterior cerebral artery revascularization in Moyamoya disease using augmented reality technology: a case report and literature review].
Zhurnal voprosy neirokhirurgii imeni N. N. BurdenkoSpatial transcriptomics reveals TGF-β-driven endothelial-mesenchymal transition in vascular remodeling of moyamoya disease.
Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and MetabolismRisk of peripartum cerebrovascular events in women with moyamoya disease: A multicenter cohort study.
International journal of stroke : official journal of the International Stroke SocietyPediatric Stroke in a United Arab Emirates (UAE) Tertiary Care Center: A Retrospective Descriptive Study.
CureusMultimodality Imaging of Moyamoya Disease: A Practical Guide for Neuroradiologists Based on a Case Report.
Reports (MDPI)Study on Abnormal Angiogenesis in Moyamoya Disease via Mitochondrial D-Loop Methylation.
Brain and behaviorBlood Pressure Management and Postoperative Stroke Risk in Pediatric Moyamoya Disease.
Pediatric neurologyMoyamoya Disease in an Eight-Year-Old Female Child-A Case Report.
Clinical case reportsBioinformatic analysis and experimental validation of mitochondria-related genes as novel biomarkers for moyamoya disease.
Computational biology and chemistryEffect of encephalomyosynangiosis procedure on post stroke recovery in a permanent model of ischemic stroke.
Experimental neurologyTwig-Like Middle Cerebral Artery: A Rare Cause of Pediatric Stroke That Mimics Moyamoya Disease.
Journal of child neurologyPerfusion Territory Shifts in Cerebrovascular Diseases Measured by Super-Selective Arterial Spin Labeling.
Journal of neuroimaging : official journal of the American Society of NeuroimagingIndirect Revascularization for Pediatric Moyamoya Angiopathy: Insights from a Brazilian Cohort.
Journal of clinical medicine[Guidelines for the clinical management of patients with moyamoya disease and moyamoya syndrome(2025 edition)].
Zhonghua yi xue za zhiChampagne bottle neck sign predicts intracranial hemorrhage in Moyamoya disease: A long-term follow-up study.
Clinical neurology and neurosurgeryA Novel Method in PET Image Reconstruction Using MRI Anatomical Priors.
IEEE transactions on radiation and plasma medical sciencesEvaluation of meningeal lymphatic vessels with delayed contrast enhanced vessel-wall MRI in cerebral infarction.
Japanese journal of radiologyRogers Syndrome and Callosal Disconnection in the Setting of Moyamoya Disease.
CureusNeurite orientation dispersion and density imaging reveals microstructural damage in moyamoya disease: a study based on tract- and gray-based spatial statistics.
BMC medical imaging[Epilepsy in Patients With Moyamoya Angiopathy].
Revista de neurologiaMorning Glory Disc Anomaly With Ipsilateral Carotid Vasculopathy: MRI Characteristics and Clinical Implications.
CureusTwig-Like Middle Cerebral Artery : Acquired Lesion Rather than Congenital Anomaly.
Journal of Korean Neurosurgical SocietyMoyamoya Disease: Pathophysiology, Diagnosis, and Treatment.
Deutsches Arzteblatt internationalGlymphatic impairment in Moyamoya disease.
Molecular and cellular neurosciencesSystemic Vasculopathy Associated With Homozygous RNF213 Mutation Presenting as Peripheral Pulmonary Artery Stenosis and Coronary Vasospasm Without Moyamoya Disease: A Case Report.
Journal of Korean medical scienceCoil embolization via donor superficial temporal artery for de novo aneurysm associated with revascularization surgery in a patient with moyamoya disease: illustrative case.
Journal of neurosurgery. Case lessonsMoyamoya disease in pediatric Down syndrome: diagnostic challenges and management strategies: a case report.
Annals of medicine and surgery (2012)Superselective Embolization of a Cavernous Sinus Dural Arteriovenous Fistula in a Patient with Moyamoya Disease.
Journal of neuroendovascular therapyThe assessment of caregiver burden and associated factors on the primary family caregivers for patients with moyamoya disease: a cross-sectional study.
Frontiers in psychiatryMoyamoya Disease: Epidemiology, Clinical Characteristics, Diagnosis, Physiopathology, and Treatment.
Cerebrovascular diseases (Basel, Switzerland)Overcoming the Challenge of Distal Lenticulostriate Artery Aneurysms With Transarterial Embolization: Technical Insights, Case Series, and Literature Review.
Neurosurgery practiceQuantification of High-Resolution Contrast-Enhanced T1-Weighted Vessel Wall MRI for Predicting Disease Progression in Moyamoya Disease.
Brain sciencesDelayed Intracerebral Hemorrhage 15 Years After Indirect Revascularization in Moyamoya Disease: A Case Report and Review of the Literature.
Brain sciencesThe efficacy of the simple bypass protocol for chronic cerebral arterial occlusion and moyamoya disease.
Chinese neurosurgical journalIncidence and outcome of pediatric moyamoya disease in the Republic of Korea: A nationwide study.
International journal of stroke : official journal of the International Stroke SocietyThe orbital grading system in pediatric moyamoya: an interrater reliability analysis of angiographic outcomes.
Journal of neurosurgery. PediatricsMetabolic Syndrome and Risk of Moyamoya Vasculopathy and Subsequent Stroke in Young Adults.
Journal of the American Heart AssociationA ruptured de novo anastomotic aneurysm shortly after superficial temporal artery-to-middle cerebral artery bypass surgery in a patient with moyamoya disease: illustrative case.
Journal of neurosurgery. Case lessonsBranching patterns and variations of the anterior choroidal artery: a detailed cadaveric morphometric analysis.
Neurosurgical reviewEfficacy of a Modified Superficial Temporal Artery-Middle Cerebral Artery Bypass Using Superficial Temporal Artery Side-Branch Donors in Adult Moyamoya Disease: A Technical Note.
Journal of clinical medicineClinical features, treatment and long-term outcomes of hemorrhagic moyamoya disease in children: an extensive follow-up study.
Stroke and vascular neurologyBlood Pressure Profile in Pediatric Moyamoya: Longitudinal Analysis and Revascularization Impact.
Pediatric neurologyChronic cerebral hypoperfusion-induced myelin loss in normal-appearing white matter correlates with cognitive decline: insights from moyamoya disease.
Alzheimer's & dementia (New York, N. Y.)The unique characteristics and risk factors of enlarged perivascular spaces in pediatric moyamoya disease.
Quantitative imaging in medicine and surgeryAccelerated brain age in Moyamoya disease patients: a deep learning approach and correlation with disease severity.
Frontiers in neuroscienceAlkaline phosphatase predicts short-term postoperative outcome in adult patients with moyamoya disease.
Frontiers in neurologyMiddle Meningeal Artery Collateralization Patterns and Influencing Factors in Pediatric Moyamoya.
Cerebrovascular diseases (Basel, Switzerland)STC1 downregulation promotes ferroptosis in human brain microvascular endothelial cells: implications for moyamoya disease pathogenesis.
NeuroscienceSuccessful coronary artery bypass grafting in a moyamoya patient with prior Encephaloduroarteriosynangiosis.
Interdisciplinary cardiovascular and thoracic surgeryRNF213 c.14429G > A (p.Arg4810Lys) is associated with non-arteritic retinal artery occlusion.
Scientific reportsMultiple arachnoid membrane opening to promote angiogenesis in adult patients with moyamoya disease after combined bypass surgery: a multicenter randomized controlled clinical trial.
Journal of neurosurgeryVisualization of Moyamoya Vessels Using Transcranial Color-Coded Duplex Sonography: A Case Report.
CureusMoyamoya disease: epidemiology, clinical features, pathogenesis, diagnosis and therapeutic interventions.
Molecular biomedicinePediatric Moyamoya Disease in Nepal and Challenges in a Resource-Limited Setting: A Case Report.
Clinical case reportsHow I do it - extracranial-intracranial bypass surgery integrating STA-MCA anastomosis, synangiosis, MMA supply, and preservation of recipient artery perforators: the Integrated Method.
Acta neurochirurgicaThe Spectrum of Headaches in Moyamoya Angiopathy: From Mechanisms to Management Strategies-A Consensus Review From the NEUROVASC Working Group.
European journal of neurologyIntegrating machine learning for the identification of ubiquitination-associated genes in moyamoya disease.
Frontiers in neurologyMoyamoya Disease in Pregnancy: A Case Report and Review of the Literature.
CureusIdentification of Biomarkers Related to the Pathogenesis and Prognosis of Pediatric Moyamoya Disease Via Cerebrospinal Fluid Proteomics.
Translational stroke researchAngiographic Characteristics and Progression in A Comprehensive Nationwide European MOYAMOYA Cohort.
European journal of neurologyThe multifaceted role of RNF213 in oncogenesis: current insights and future research directions.
Discover oncologyHemoglobin SC Sickle Cell Disease Presenting as Acute Ischemic Stroke With Moyamoya Syndrome in an Adult: A Case Report.
CureusMesenchymal stem cell-derived extracellular vesicles exert Th1-mediated anti-inflammatory effects via miR-146a/NF-κB pathway: comparison with dupilumab in a mouse model of atopic dermatitis.
Stem cell research & therapyDemographic, imaging and disease patterns of moyamoya angiopathy in South Auckland: an observational study from electronic health records.
Internal medicine journalDownregulation of IL-20RA in Cerebrospinal Fluid Associated with the Risk of Moyamoya Disease: A Molecular Signatures Analysis with an Inflammation Proteomics Landscape.
Journal of inflammation researchA complex case of moyamoya disease mimicking vasculitis: diagnostic challenges and systemic complications in a young adult.
Radiology case reportsDifferentially Expressed Genes and Biological Pathways in Moyamoya Disease: A Systematic Review and Meta-analysis of Transcriptomic Studies.
Translational stroke researchGenetic epidemiology of moyamoya disease and CADASIL in over 120,000 healthy Korean individuals: Insights into cerebrovascular disorders.
PloS oneEffect of direct revascularization on cerebral vasodilatory reserve in the unoperated hemisphere in Moyamoya disease.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaCombination of Perioperative Cilostazol and Aspirin in Pediatric Moyamoya: A Case Series.
Pediatric neurologyEvaluation of Cortical Microvascularization by Preoperative Maximum Intensity Projection Method in Moyamoya Disease Reflects the Increase of Pial Arteries on the Brain Surface.
Neurologia medico-chirurgicaThe Falcate Artery: Its Dynamics in Vasospasm.
The Indian journal of radiology & imagingOptimizing Surgical Timing to Reduce Stroke Risk in Pediatric Moyamoya Disease.
StrokeShort Stature in Moyamoya Disease: A Systematic Review of Potential Mechanisms and Clinical Outcomes.
Stroke research and treatmentA thyroid storm causing strokes and unmasking moyamoya.
Radiology case reportsJournal Club: Efficacy and Safety of IV Thrombolysis for Acute Ischemic Stroke Patients With Moyamoya Disease.
NeurologyMoyamoya Syndrome or Moyamoya Disease? Primary CNS Vasculitis in a Child? The Importance of Nomenclature.
International journal of rheumatic diseasesMoyamoya Disease and the Risk of Parkinson's Disease.
Annals of clinical and translational neurologyUltrasonographic assessment of bypass capacity after revascularization surgery in moyamoya disease: a systematic review and single-arm meta-analysis.
Acta neurochirurgicaUnveiling Psychiatric Manifestations in a Case of Moyamoya Disease.
CureusMoyamoya Syndrome in Patients With Down Syndrome and Acute Lymphoblastic Leukemia.
Pediatric blood & cancerSingle-Cell Transcriptome Profiling Reveals Dynamic Cell Populations and Immune Infiltration in Moyamoya Disease.
Journal of the American Heart AssociationThe impact of anesthesia methods on early postoperative cognitive function in Moyamoya disease patients after vascular bypass surgery.
MedicineA Rare Case of Moyamoya Disease in Infancy: Complexities in Post-stroke Neurorehabilitation.
CureusClinical and hemodynamic outcomes of side-to-side anastomosis in superficial temporal artery-middle cerebral artery bypass for adult patients with moyamoya disease: a prospective cohort study.
Frontiers in neurologyToward Semiautomated Analysis of Cerebrovascular Reserve: Enhancing Objective Comparisons Using 99m Tc-HMPAO SPECT With Acetazolamide in Moyamoya.
NeurosurgerySymptomatic cerebral hyperperfusion after occipital artery-posterior cerebral artery bypass in a patient with moyamoya disease: illustrative case.
Journal of neurosurgery. Case lessonsAssociações
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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.
- Mode of Birth and Stroke Risk After Childbirth Among Women With Moyamoya Disease.
- Understanding stroke risk phenotypes in pediatric patients with sickle cell disease and concurrent moyamoya arteriopathy: insights from 61 cases at a single institution.
- Unusual Synchronous Arbitrary-Gate Doppler Spectra Enable Intraoperative Hemodynamic Warning of Cerebral Hyperperfusion Syndrome on Moyamoya Disease.
- [Detection and Management of Asymptomatic Cerebrovascular Disease].
- [Pathophysiology and Outcome of Asymptomatic Moyamoya Disease].
- Intraoperative application of FFR pressure wire and FLOW800 imaging as predictors of postoperative cerebral perfusion abnormalities in Moyamoya disease.
- Anesthetic Management of a Patient With Factor XIII Deficiency Undergoing Encephaloduroarteriosynangiosis (EDAS): A Case Report and Literature Review.
- Iterative delay correction improves breath-hold cerebrovascular reactivity mapping in clinical populations.
- Severe stenosis of major intracranial arteries: an important risk factor for infarction complications after combined revascularization in adult patients with ischemic moyamoya disease.
- Ferulic acid promotes proliferation and angiogenesis of cerebral microvascular endothelial cells in Moyamoya disease via the SIRT1/HIF-1α/VEGF-A axis.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2573(Orphanet)
- MONDO:0016820(MONDO)
- GARD:7064(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1951267(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
