Doença cerebrovascular rara, mas grave, envolvendo trombose do sistema venoso cerebral. Afeta crianças desde o período neonatal até a infância e adolescência. Na TVCS infantil, as infecções agudas de cabeça e pescoço, como a mastoidite, são mais comuns, seguidas por doenças crônicas subjacentes, como síndrome nefrótica, câncer e doença inflamatória intestinal. Os sinais e sintomas também estão relacionados à idade. Convulsões e alteração do estado mental são as manifestações mais comuns em recém-nascidos. Dor de cabeça, vômito e letargia, às vezes com paralisia do sexto nervo, são os sintomas mais comuns em crianças e adolescentes.
Introdução
O que você precisa saber de cara
Doença cerebrovascular rara, mas grave, envolvendo trombose do sistema venoso cerebral. Afeta crianças desde o período neonatal até a infância e adolescência. Na TVCS infantil, as infecções agudas de cabeça e pescoço, como a mastoidite, são mais comuns, seguidas por doenças crônicas subjacentes, como síndrome nefrótica, câncer e doença inflamatória intestinal. Os sinais e sintomas também estão relacionados à idade. Convulsões e alteração do estado mental são as manifestações mais comuns em recém-nascidos. Dor de cabeça, vômito e letargia, às vezes com paralisia do sexto nervo, são os sintomas mais comuns em crianças e adolescentes.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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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
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 1 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
3 genes identificados com associação a esta condição.
Appears to assist hemostasis by binding thrombin and promoting its association with phospholipid vesicles. Inhibits activity of the coagulation protease factor Xa in the presence of SERPINA10, calcium and phospholipids
Secreted
Central regulator of hemostasis. It serves as a critical cofactor for the prothrombinase activity of factor Xa that results in the activation of prothrombin to thrombin
Secreted
Factor V deficiency
A blood coagulation disorder leading to a hemorrhagic diathesis known as parahemophilia.
Thrombin, which cleaves bonds after Arg and Lys, converts fibrinogen to fibrin and activates factors V, VII, VIII, XIII, and, in complex with thrombomodulin, protein C. Functions in blood homeostasis, inflammation and wound healing. Activates coagulation factor XI (F11); activation is promoted by the contact with negatively charged surfaces (PubMed:2019570, PubMed:21976677). Triggers the production of pro-inflammatory cytokines, such as MCP-1/CCL2 and IL8/CXCL8, in endothelial cells (PubMed:3056
Secreted, extracellular space
Factor II deficiency
A very rare blood coagulation disorder characterized by mucocutaneous bleeding symptoms. The severity of the bleeding manifestations correlates with blood factor II levels.
Variantes genéticas (ClinVar)
372 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
19 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 — Trombose cerebral sinovenosa
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
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Long-term neurological and psychiatric outcomes after paediatric arterial ischaemic stroke and cerebral sinovenous thrombosis.
To examine long-term outcomes in children and adolescents after first-time arterial ischaemic stroke (AIS) or cerebral sinovenous thrombosis (CSVT). Patients (0-18 years) diagnosed with a first-time cerebral thrombosis between 1994 and 2006 were followed until 2017 in this descriptive follow-up study. Patients were identified, and age- and sex-matched 1:10 with individuals from the general population. Data were extracted from national registries of patients. Outcomes included all-cause mortality, and hospital diagnoses of neurological and psychiatric disorders after cerebral thrombosis. A total of 251 patients with cerebral thrombosis were followed up for a median of 16 years (interquartile range 13 years 1 month-19 years 4 months). Cumulative all-cause mortality at 23 years 8 months was 11.4% (95% confidence interval [CI] 7.1-17.9). Hazard ratios indicated an increased risk of 64.0 times (95% CI 35.3-116.0) for cerebral palsy, 17.9 times (95% CI 10.2-31.5) for vision problems, and 4.1 times (95% CI 2.0-8.4) for being diagnosed with severe mental disorders during follow-up for those with previous cerebral thrombosis compared with the general population. The risk of morbidity was significantly increased following both AIS and CSVT. Children and adolescents experience a higher all-cause mortality and a high risk of neurological and psychiatric diagnoses after AIS or CSVT compared with the general population.
[Neurodevelopmental outcomes in different types of neonatal stroke].
To investigate the long-term neurodevelopmental outcomes of neonates with different types of stroke. Data from 41 neonates diagnosed with stroke at the Third Affiliated Hospital of Zhengzhou University between January 2017 and May 2024 were retrospectively reviewed. Stroke types included arterial ischemic stroke (AIS), hemorrhagic stroke (HS), and cerebral sinovenous thrombosis (CSVT). All infants were followed to 2 years of age. Neurodevelopmental outcomes were assessed using the Bayley Scales of Infant and Toddler Development, Third Edition (BSID-III), focusing on motor and cognitive development. Outcomes were compared according to vascular involvement. Of the 41 neonates, 35(85%) had AIS, 5(12%) had HS, and 1(2%) had CSVT. Among the 35 AIS cases, 16(46%) involved the main trunk of the middle cerebral artery (MCA). The incidences of cerebral palsy (CP) and cognitive developmental delay were significantly higher in the MCA main trunk group than in the non-main-trunk group (P<0.05). Among the 5 HS cases, 1 involving the frontal cortical branch of the MCA died at 12 days of life. Two cases involving the temporal cortical branches had BSID-III cognitive development indices of 102 and 106, and motor development indices of 90 and 95 at 2 years. The remaining 2 cases involving the MCA main trunk developed CP. The single CSVT case involved the great cerebral vein and presented with CP and language developmental impairment. AIS is the most common type of neonatal stroke and shows poorer outcomes by 2 years of age. Early identification and early intervention are essential in clinical practice. 目的: 探讨不同类型新生儿脑卒中患儿的远期神经发育预后。方法: 回顾性分析2017年1月—2024年5月郑州大学第三附属医院收治的41例新生儿脑卒中患儿的资料，包括动脉缺血性脑卒中（arterial ischemic stroke, AIS）、出血性脑卒中（hemorrhagic stroke, HS）、静脉窦血栓（cerebral sinovenous thrombosis, CSVT）3种类型，随访至2岁，采用贝利婴幼儿发展量表Ⅲ评估运动及智力发育，比较不同血管受累后的神经发育结局。结果: 41例新生儿脑卒中患儿中，AIS 35例（85%），HS 5例（12%），CSVT 1例（2%）。35例AIS中，大脑中动脉（middle cerebral artery, MCA）主干受累16例（46%），其脑性瘫痪及智力发育落后发生率高于非MCA主干组（P<0.05）。5例HS中，1例累及MCA额叶皮质支的患儿，于生后12 d死亡;2例累及MCA颞叶皮质支的患儿，随访至2岁，贝利婴幼儿发展量表Ⅲ智力发育指数分别为102、106分，运动发育指数分别为90、95分;2例累及MCA主干的患儿，均发生脑性瘫痪。1例CSVT累及大脑大静脉的患儿，伴脑性瘫痪及语言发育障碍。结论: 新生儿脑卒中以AIS最常见，随访至2岁时预后较差，临床应早期识别、早期干预。.
Long-term neurological and psychiatric outcomes after paediatric arterial ischaemic stroke and cerebral sinovenous thrombosis.
Perinatal arterial ischemic stroke (PAIS) and neonatal cerebral sinovenous thrombosis (CSVT) in the preterm neonate: a systematic review.
Perinatal arterial ischemic stroke (PAIS) and cerebral sinovenous thrombosis (CSVT) cause significant neurological morbidity, including cerebral palsy, in preterm infants. Compared to term infants, the epidemiology, risk factors, and outcomes of PAIS and CSVT in preterm infants are less well understood. This systematic review aimed to summarize the literature on incidence, risk factors, clinical presentation, neuroimaging, and neurodevelopmental outcomes of PAIS and CSVT in infants born before 37 weeks' gestation. A comprehensive search of PubMed, Embase, and Web of Science for studies from 2004 to 2025 identified 14 eligible studies including 132 infants with PAIS and 57 with CSVT. Incidence rates were higher in infants of lower gestational age. Identified PAIS risk factors included twin-to-twin transfusion syndrome, fetal heart rate abnormalities, and hypoglycemia. Perforator artery strokes were most common, while CSVT frequently involved the transverse sinus. Many risk factors overlapped with term infants but preterm infants showed more prematurity-related complications, longer ventilation, and postoperative states. Neurodevelopmental outcomes were poor, with high rates of impairment and mortality, especially in CSVT. The review highlights urgent needs for larger, controlled studies to improve prevention, early diagnosis, and management in this vulnerable population. IMPACT: This review systematically summarizes incidence, risk factors, neuroimaging patterns, treatment, and outcomes of perinatal arterial ischemic stroke (PAIS) and cerebral sinovenous thrombosis (CSVT) specifically in preterm infants-a group often excluded from previous studies. The findings reveal that preterm infants with PAIS and CSVT have unique and overlapping risk factors (such as twin-to-twin transfusion syndrome and hypoglycemia), often present asymptomatically, and are at high risk for poor neurodevelopmental outcomes and mortality. The review highlights urgent knowledge gaps, especially regarding the safety and effectiveness of anticoagulation therapy in preterm CSVT, and stresses the need for larger studies and targeted strategies to improve recognition, management, and long-term outcomes for this vulnerable group.
Prenatal diagnosis of fetal left transverse venous sinus thrombosis with intracranial hemorrhage: imaging findings and short-term outcome.
This report presents the prenatal imaging findings and short-term clinical outcome of a rare case of fetal cerebral sinovenous thrombosis, along with a brief review of the literature. A 31-year-old pregnant Afghan woman at 34 weeks of gestation (gravida 3, para 0, abortion 2) presented to the hospital with complaints of decreased fetal movement. Fetal cranial ultrasonography revealed a thick-walled, avascular, hypoechoic, mass-like lesion (17×18×18 mm) extending from the left foramen of Monro to the superior aspect of the thalamus and displacing the body of the left lateral ventricle. Fetal cranial magnetic resonance imaging (MRI) suggested subacute hemorrhage and demonstrated hyperintensity in the left transverse venous sinus, indicative of thrombosis. Serial follow-up revealed stability of the lesion; however, at 36 weeks, an emergency cesarean section was performed due to fetal distress. Postnatal cranial MRI and magnetic resonance venography (MRV) confirmed left transverse venous sinus thrombosis with subacute hemorrhage. The newborn received enoxaparin therapy for 3 months, remained clinically stable, and had no neurological deficits at the 4-month follow-up. Fetal intracranial hemorrhage has a broad differential diagnosis, and accurate identification of the underlying etiology is critical for prognosis and management. Fetal cerebral sinovenous thrombosis should be considered in the differential diagnosis when mass-like hemorrhagic lesions are detected on prenatal imaging. While short-term outcomes may be favorable in the absence of additional cranial pathology, the long-term prognosis remains uncertain.
Publicações recentes
An in-depth examination of variations in cerebral venous sinuses and the occurrence of sinovenous thrombosis.
Long-term neurological and psychiatric outcomes after paediatric arterial ischaemic stroke and cerebral sinovenous thrombosis.
🥉 Relato de casoLong-term neurological and psychiatric outcomes after paediatric arterial ischaemic stroke and cerebral sinovenous thrombosis.
Perinatal arterial ischemic stroke (PAIS) and neonatal cerebral sinovenous thrombosis (CSVT) in the preterm neonate: a systematic review.
[Neurodevelopmental outcomes in different types of neonatal stroke].
📚 EuropePMC174 artigos no totalmostrando 157
An in-depth examination of variations in cerebral venous sinuses and the occurrence of sinovenous thrombosis.
BMC medical imagingLong-term neurological and psychiatric outcomes after paediatric arterial ischaemic stroke and cerebral sinovenous thrombosis.
Developmental medicine and child neurologyPerinatal arterial ischemic stroke (PAIS) and neonatal cerebral sinovenous thrombosis (CSVT) in the preterm neonate: a systematic review.
Pediatric research[Neurodevelopmental outcomes in different types of neonatal stroke].
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Journal of pediatric hematology/oncology[Cerebral sinovenous thrombosis in a newborn with mutation of MTHFR C677T treated with enoxaparin].
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Croatian medical journalCerebrovascular Complications of Pediatric Blunt Trauma.
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Journal of thrombosis and thrombolysis[Epilepsy in children with congenital hemiparesis secondary to perinatal ictus].
MedicinaCause or Consequence: The Relationship Between Cerebral Venous Thrombosis and Idiopathic Intracranial Hypertension.
The neurologistNeonatal cerebral sinovenous thrombosis.
Handbook of clinical neurologyPediatric cerebral sinovenous thrombosis: Optimal treatment may differ by etiology.
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Journal of child neurologyThe Role of Factor V Leiden, Prothrombin G20210A, and MTHFR C677T Mutations in Neonatal Cerebral Sinovenous Thrombosis.
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HaematologicaPREVAPIX-ALL: Apixaban Compared to Standard of Care for Prevention of Venous Thrombosis in Paediatric Acute Lymphoblastic Leukaemia (ALL)-Rationale and Design.
Thrombosis and haemostasisNeurological complications in childhood nephrotic syndrome: A systematic review.
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Clinical case reportsAnatomical Venous Variants in Children With Cerebral Sinovenous Thrombosis.
StrokeManagement of thrombosis in children and neonates: practical use of anticoagulants in children.
Hematology. American Society of Hematology. Education ProgramEndovascular Treatment of a Dural Arteriovenous Fistula after Cerebral Sinovenous Thrombosis in a Child.
Pediatric neurosurgeryShort-term neurological outcomes in ischemic and hemorrhagic pediatric stroke.
Pediatrics international : official journal of the Japan Pediatric SocietyChild Neurology: Mimics of cerebral sinovenous thrombosis: A pediatric case series.
NeurologyThrombosed Fetal Dural Sinus Malformation: Correlation Between Prenatal Ultrasound and Autopsy Findings.
Fetal and pediatric pathologyQualitative protein C deficiency due to PROC c.577_579delAAG mutation not detected by chromogenic assays: A case of intractable cerebral sinovenous thrombosis.
Pediatric blood & cancerCirculating Levels of Interleukin-10 and -17 in Patients with Cerebral Sinovenous Thrombosis (CSVT) in Acute and Subacute Stages: A Prospective Case-Control Study.
Iranian journal of immunology : IJIAmplitude-Integrated Electroencephalography for Early Recognition of Brain Injury in Neonates with Critical Congenital Heart Disease.
The Journal of pediatricsNeurological Complications of the Treatment of Pediatric Neoplastic Disorders.
Pediatric neurologyPerinatal stroke: mechanisms, management, and outcomes of early cerebrovascular brain injury.
The Lancet. Child & adolescent healthNeurologic Outcome Predictors in Pediatric Intracerebral Hemorrhage: A Prospective Study.
Stroke[Perinatal stroke - from symptoms to follow-up].
Ideggyogyaszati szemleEpilepsy after perinatal stroke with different vascular subtypes.
Epilepsia openConsensus statement on abusive head trauma in infants and young children.
Pediatric radiologyConservative management of neonatal cerebral sinovenous thrombosis with coexisting thrombophilia.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisAnticoagulation in the management of neonatal cerebral sinovenous thrombosis: a systematic review and meta-analysis.
Developmental medicine and child neurologyNeonatal cerebral sinovenous thrombosis: the anticoagulation debate.
Developmental medicine and child neurologySymptomatic Cerebral Sinovenous Thrombosis Associated With L-Asparaginase In Children With Acute Lymphoblastic Leukemia: A Single Institution Experience Over 17 Years.
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Developmental medicine and child neurologyClinical and neuroimaging characteristics of cerebral sinovenous thrombosis in neonates undergoing cardiac surgery.
The Journal of thoracic and cardiovascular surgeryNeonatal cerebral sinovenous thrombosis: Two cases, two different gene polymorphisms and risk factors.
The Turkish journal of pediatricsFacial Palsy in Cerebral Venous Thrombosis: An Atypical Case in a Young Girl.
Journal of pediatric neurosciencesCerebral Sinovenous Thrombosis.
Frontiers in pediatricsNeonatal Vein of Labbé Infarction Size is Associated With Long-Term Language Outcomes.
Pediatric neurologyPathways for Neuroimaging of Childhood Stroke.
Pediatric neurologyPathways for Neuroimaging of Neonatal Stroke.
Pediatric neurologyClinical Characteristics, Risk Factors, and Outcomes Associated With Neonatal Hemorrhagic Stroke: A Population-Based Case-Control Study.
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Pediatric neurologyInternational Classification of Diseases, Ninth Revision (ICD-9) Diagnosis Codes Can Identify Cerebral Venous Thrombosis in Hospitalized Adults.
The NeurohospitalistCerebral Sinovenous Thrombosis Mimicking Intracranial Mass.
Turkish journal of haematology : official journal of Turkish Society of HaematologyEvaluation of cases with cerebral thrombosis in children.
Turk pediatri arsiviContralateral Hypoplastic Venous Draining Sinuses Are Associated with Elevated Intracranial Pressure in Unilateral Cerebral Sinovenous Thrombosis.
AJNR. American journal of neuroradiologyCerebral Sinovenous Thrombosis in Neonates and Children.
Pediatric neurology briefsCerebral sinovenous thrombosis in children and young adults with acute lymphoblastic leukaemia - a cohort study from the United Kingdom.
British journal of haematologyCerebral sinovenous thrombosis (CSVT) in children: what the pediatric radiologists need to know.
La Radiologia medicaPrognostication Value of Descending Corticospinal Tract DWI Signal in Neonatal Cerebral Sinovenous Thrombosis.
Pediatric neurologyRadiological and clinical features of cerebral sinovenous thrombosis in newborns and older children.
Journal of neuroradiology = Journal de neuroradiologieImaging of Pediatric Stroke.
Indian journal of pediatricsStrategies to Prevent and Manage Thrombotic Complications of Acute Lymphoblastic Leukemia in Children and Young People Vary Between Centers in the United Kingdom.
Journal of pediatric hematology/oncologyPediatric Cortical Vein Thrombosis: Frequency and Association With Venous Infarction.
StrokePerinatal thrombosis: implications for mothers and neonates.
Hematology. American Society of Hematology. Education ProgramMagnetic Resonance Imaging of Pediatric Neurologic Emergencies.
Topics in magnetic resonance imaging : TMRICerebral Sinovenous Thrombosis in a Patient with Transient Eosinophilia.
Internal medicine (Tokyo, Japan)Cerebral sinovenous thrombosis in a child with homocystinuria.
Medical journal, Armed Forces IndiaThrombosis in the Neonatal Intensive Care Unit.
Clinics in perinatologyCerebral sinovenous thrombosis in a child with Crohn's disease, otitis media, and meningitis.
The neuroradiology journalHomocystinuria: A Rare Disorder Presenting as Cerebral Sinovenous Thrombosis.
Iranian journal of child neurologyRisk factors of venous thromboembolism in focal segmental glomerulosclerosis with nephrotic syndrome.
Clinical and experimental nephrologyA novel association between cerebral sinovenous thrombosis and nonketotic hyperglycinemia in a neonate.
Korean journal of pediatricsAcute paraplegia in a preterm infant with cerebral sinovenous thrombosis.
Journal of perinatology : official journal of the California Perinatal AssociationLate-onset group B streptococcal meningitis has cerebrovascular complications.
The Journal of pediatricsPaediatric arterial ischaemic stroke and cerebral sinovenous thrombosis. First report from the Italian Registry of Pediatric Thrombosis (R. I. T. I., Registro Italiano Trombosi Infantili).
Thrombosis and haemostasisState of the art cranial ultrasound imaging in neonates.
Journal of visualized experiments : JoVENeuroimaging findings in pediatric cerebral sinovenous thrombosis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery[Neonatal seizures: consider sinus thrombosis].
Nederlands tijdschrift voor geneeskundeSerial cranial ultrasonography or early MRI for detecting preterm brain injury?
Archives of disease in childhood. Fetal and neonatal editionVenous sinus thrombosis in a child with nephrotic syndrome: a case report and literature review.
Revista Brasileira de terapia intensivaAssociações
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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.
- Long-term neurological and psychiatric outcomes after paediatric arterial ischaemic stroke and cerebral sinovenous thrombosis.
- [Neurodevelopmental outcomes in different types of neonatal stroke].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics· 2026· PMID 41582745mais citado
- Long-term neurological and psychiatric outcomes after paediatric arterial ischaemic stroke and cerebral sinovenous thrombosis.
- Perinatal arterial ischemic stroke (PAIS) and neonatal cerebral sinovenous thrombosis (CSVT) in the preterm neonate: a systematic review.
- Prenatal diagnosis of fetal left transverse venous sinus thrombosis with intracranial hemorrhage: imaging findings and short-term outcome.
- An in-depth examination of variations in cerebral venous sinuses and the occurrence of sinovenous thrombosis.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:329217(Orphanet)
- MONDO:0017993(MONDO)
- GARD:21485(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55787668(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
