Qualquer doença sindrômica causada por uma mutação no gene NHLRC2, caracterizada por sintomas graves e progressivos no cérebro e nos pulmões, que resultam em morte na infância por insuficiência respiratória. As características incluem má absorção de nutrientes, atraso progressivo no crescimento, infecções recorrentes, anemia hemolítica crônica e mau funcionamento temporário do fígado.
Introdução
O que você precisa saber de cara
Qualquer doença sindrômica causada por uma mutação no gene NHLRC2, caracterizada por sintomas graves e progressivos no cérebro e nos pulmões, que resultam em morte na infância por insuficiência respiratória. As características incluem má absorção de nutrientes, atraso progressivo no crescimento, infecções recorrentes, anemia hemolítica crônica e mau funcionamento temporário do fígado.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 15 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 45 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
1 gene identificado com associação a esta condição.
Required for normal embryonic development
Cytoplasm, cytosol
Fibrosis, neurodegeneration, and cerebral angiomatosis
An autosomal recessive, early-onset and fatal disorder clinically characterized by progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic hemolytic anemia and transient liver dysfunction. Death occurs in the first years of life due to respiratory failure. Post-mortem neuropathological examination reveals increased angiomatosis-like leptomeningeal, cortical and superficial white matter vascularisation and congestion, vacuolar degeneration and myelin loss in white matter, as well as neuronal degeneration. Interstitial fibrosis and granuloma-like lesions are observed in the lungs. Hepatomegaly, steatosis and collagen accumulation are detected in the liver.
Variantes genéticas (ClinVar)
42 variantes patogênicas registradas no ClinVar.
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 — Síndrome de fibrose-neurodegenerescência-angiomatose cerebral
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
Unusual association: Sturge-Weber syndrome with Klippel-Trenaunay syndrome.
Sturge-Weber syndrome (SWS) and Klippel-Trenaunay syndrome (KTS) are rare vascular malformation disorders characterised by distinct clinical features but overlapping pathogenic mechanisms, involving somatic mosaic mutations and dysregulation of the mTOR pathway. SWS typically presents with facial port-wine stains, leptomeningeal angiomas and glaucoma, while KTS is characterised by limb hypertrophy, varicosities and venous malformations without central nervous system involvement. We report an unusual case of a middle childhood boy with features of both syndromes, including extensive facial and truncal port-wine stains, seizures, glaucoma, limb hypertrophy and venous anomalies. Imaging and clinical findings confirmed the coexistence of SWS and KTS phenotypes, highlighting the diagnostic complexity of overlap syndromes. Exome sequencing did not reveal any pathogenic variants. Multidisciplinary management, including seizure control, glaucoma care, vascular interventions and psychosocial support, remains crucial. Recognition of such overlap syndromes broadens understanding of their pathogenesis and opens avenues for targeted therapies such as mTOR inhibitors.
Whole-Genome Landscape of Retinal Hemangioblastomas.
Retinal hemangioblastomas (RHs) are rare benign vascular tumors that present mostly as manifestations of Von Hippel-Lindau (VHL) syndrome. In contrast to other VHL syndrome-associated tumors, only a handful of molecular studies have been published on RHs. It remains unclear whether VHL alterations alone drive RH tumorigenesis. Whole-genome sequencing (WGS) was performed on germline- and RHs-derived DNA of five patients. Additionally, transcriptomes of four unaffected retinas and five choroid controls were compared with those of RH biopsies. Heterozygous germline missense variants and copy number losses impacting VHL were identified. In all RH biopsies, mosaic loss of chromosome 3 was present, indicating the "second hit" in RHs is likely loss of the complete wild-type chromosome 3. Few additional somatic short nucleotide variants (SNVs) indels, or structural variants with deleterious potential were detected, suggesting that somatic changes are rare but not limited to the VHL gene region. RNA sequencing revealed reduced VHL expression in tumor tissue and downstream gene expression changes consistent with loss of VHL expression. RHs have few somatic changes. Loss of chromosome 3 is likely the second hit in RHs with germline VHL alterations. RHs are benign neoplasms with little somatic changes compared with other VHL-syndrome associated tumors. Variants affecting VHL impact downstream gene expression, variants impacting different VHL domains result in differential gene expression of these downstream targets. RNA sequencing may aid in the evaluation of variants of unknown significance.
Psychosocial Outcomes in Patients With Endocrine Tumor Syndromes: A Systematic Review.
The combination of disease manifestations, the familial burden, and varying penetrance of endocrine tumor syndromes (ETSs) is unique. This review aimed to portray and summarize available data on psychosocial outcomes in patients with ETSs and explore gaps and opportunities for future research and care. Literature was systematically searched for articles on psychosocial outcomes in patients with multiple endocrine neoplasia (MEN), von Hippel-Lindau (VHL), and pathogenic variants (PVs) in succinate dehydrogenase (SDHx) genes via PubMed, PsychInfo, and Embase. Study quality was assessed using the CASP and STROBE appraisal tools. In total, 36 studies were found with fluctuating levels of evidence, of which five included pediatric patients. Overall, studies showed a considerable impact of ETSs on psychosocial outcomes such as quality of life (QoL), anxiety, and depression. Maladaptive coping, as well as social and financial restraints, were associated with poorer psychosocial outcomes. Surveillance protocols had ambivalent effects, both creating a sense of control and serving as a constant reminder of having an ETS. Parathyroid disease was associated with adverse psychosocial effects in MEN1. In MEN2A, gastrointestinal symptoms and having affected offspring were associated with poorer psychosocial outcomes. In MEN2B, pain was reported to interfere with daily life. Studies regarding VHL reported a wide range of experiences in patients and family members. Only a few studies were found for patients with PVs in SDHx genes, mainly describing effects due to the manifestation of disease or paraganglioma. Psychosocial outcomes and possible underlying factors seem different for each ETS. More research is needed to address psychosocial outcomes in children with an ETS.
[Calcinosis cutis in a hemodialysis patient with Von Hippel-Lindau disease].
We report the case of a 52-year-old man with Von Hippel-Lindau disease who had been receiving nocturnal home hemodialysis for ten months following bilateral nephrectomy for multifocal clear cell renal carcinoma. He presented with a firm, painless subcutaneous nodule on the right anterior thigh, featuring a central crater filled with chalky-white material. Skin biopsy revealed dermal calcium deposits surrounded by a fibrous and histiocytic reaction, consistent with dystrophic calcinosis cutis. Additional nodules were palpable on the left calf and right biceps. Bilateral femur X-rays were normal. Persistent hyperphosphatemia and inadequate dialysis likely contributed to the development of these extraosseous calcifications. Management included intensification of phosphate binder therapy and increased dialysis frequency. This case illustrates the potential interplay between hereditary tumor syndromes and dialysis-related mineral metabolism disorders, highlighting the risk of severe extraosseous calcifications in such patients. Nous rapportons le cas d’un homme de 52 ans atteint de la maladie de Von Hippel-Lindau, traité par hémodialyse nocturne à domicile depuis dix mois, après néphrectomie bilatérale pour carcinome rénal à cellules claires multifocal. Il signale l’apparition d’un nodule sous-cutané ferme et indolore de la cuisse droite, avec un cratère central rempli de matériel blanchâtre. La biopsie cutanée a révélé des dépôts calciques dermiques entourés d’une réaction fibreuse et histiocytaire, compatible avec une calcinose cutanée dystrophique. D’autres nodules suspects étaient palpables sur le mollet gauche et le biceps droit. La radiographie des fémurs était normale. L’hyperphosphatémie persistante et un contexte de dialyse insuffisante ont probablement contribué à la survenue de ces calcifications extra-osseuses. L’intensification du traitement chélateur du phosphate et une augmentation de la fréquence des séances d’hémodialyse ont été mises en œuvre. Ce cas illustre l’interaction potentielle entre pathologies tumorales héréditaires et troubles phosphocalciques liés à la dialyse.
Unilateral port wine stain on the face: a case report and review.
Sturge-Weber syndrome (SWS) is a sporadic, progressive, congenital condition that occurs due to hamartomatous malformation and is usually referred to as a "port wine stain." It is characterized by trisymptomatic forms that include facial port wine stain, glaucoma, and leptomeningeal calcifications. A 42-year-old female patient presented with a chief complaint of missing teeth in the mandibular anterior region that had recently exfoliated following mobility. A unilateral port wine stain noted on the left side of her face appeared to follow the left maxillary division of the trigeminal nerve with minimal intraoral signs. The patient claimed it had been present since birth. The origin, pathophysiology, clinical presentation, differential diagnosis, potential therapies, and prognosis of SWS are discussed. A multidisciplinary approach to individuals with SWS is required for the successful treatment of these patients. Le syndrome de Sturge-Weber (SSW) est une affection congénitale, sporadique et progressive, résultant d’une malformation hamartomateuse et généralement désignée sous le terme de « tache de vin ». Il se caractérise par une forme trisymptomatique associant une tache de vin du visage, un glaucome et des calcifications leptoméningées. Une patiente de 42 ans s’est présentée avec comme plainte principale l’absence de dents dans la région antérieure mandibulaire, récemment exfoliées à la suite d’une mobilité dentaire. Une tache de vin unilatérale, observée sur le côté gauche de son visage, semblait suivre la division maxillaire gauche du nerf trijumeau, avec des signes intra-oraux minimes. La patiente a déclaré que cette lésion était présente depuis la naissance. L’origine, la physiopathologie, la présentation clinique, le diagnostic différentiel, les options thérapeutiques potentielles ainsi que le pronostic du syndrome de Sturge-Weber sont discutés. Une prise en charge multidisciplinaire des personnes ayant le syndrome de Sturge-Weber est nécessaire pour assurer le succès du traitement de ces patients.
Publicações recentes
Extensive metameric involvement in Cobb syndrome presenting as compressive myelopathy.
[Preclinical diagnostics of von Hippel-Lindau syndrome in a child].
[Surgical treatment of pheochromocytoma].
Hemangioblastomas and Other Vascular Origating Tumors of Brain or Spinal Cord.
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.
📚 EuropePMCmostrando 199
[Calcinosis cutis in a hemodialysis patient with Von Hippel-Lindau disease].
Nephrologie & therapeutiqueUnilateral port wine stain on the face: a case report and review.
Canadian journal of dental hygiene : CJDH = Journal canadien de l'hygiene dentaire : JCHDDiffuse Dermal Angiomatosis of the Breast Presenting as Diffuse Erythema Mimicking Inflammatory Breast Carcinoma in a Healthy Pregnant Patient.
The American Journal of dermatopathology[A Family case of von Hippel-Lindau syndrome].
Problemy endokrinologiiMicropulse transscleral diode laser for pediatric glaucoma in Sturge-Weber syndrome: A bridge therapy to other treatments.
Archivos de la Sociedad Espanola de OftalmologiaAtypical Histopathological Findings in an Epilepsy Surgery Case of Sturge-Weber Syndrome With Coexisting Developmental Venous Anomaly.
Neuropathology : official journal of the Japanese Society of NeuropathologySturge-Weber Syndrome: A Rare Clinical Presentation with Bilateral Port-Wine Stain and Leptomeningeal Angiomatosis.
Indian journal of dermatologyUnusual association: Sturge-Weber syndrome with Klippel-Trenaunay syndrome.
BMJ case reportsFirst-in-class HIF-2α therapy in genitourinary oncology: Belzutifan from von Hippel-Lindau disease to advanced renal cell carcinoma.
Cancer chemotherapy and pharmacologyWhole-Genome Landscape of Retinal Hemangioblastomas.
Translational vision science & technologyTotal hip replacement in Klippel-Trenaunay syndrome with massive AV Malformations. A Case report.
La Clinica terapeuticaHereditary renal cell carcinoma surveillance protocols: a review of the literature and proposed recommendations.
Familial cancerAccidental finding of Sturge-Weber syndrome presented to the emergency department with persistent seizures: an unusual case report from Somalia.
Annals of medicine and surgery (2012)Psychosocial Outcomes in Patients With Endocrine Tumor Syndromes: A Systematic Review.
Pediatric blood & cancer[Chinese expert consensus for the diagnosis and treatment of von Hippel-Lindau syndrome (2025 edition)].
Zhonghua yi xue za zhiDysregulation of the ubiquitin-proteasome system in von Hippel-Lindau syndrome: molecular insights and clinical perspectives.
Clinical and experimental medicineType 3 Sturge-Weber Syndrome Presenting With Concurrent Epilepsy and Migraine.
CureusAdrenergic Storm with Obstructive Hydrocephalus: Atypical Neurological Presentation of Von Hippel-Lindau Disease with Bilateral Pheochromocytoma in an Adolescent.
Journal of the ASEAN Federation of Endocrine SocietiesNot Just a Birthmark: A Case Report of a Subtle Port-Wine Stain Heralding Sturge-Weber Syndrome.
CureusDecoding Meningioangiomatosis: A Century of Insights into Molecular Mechanisms, Clinical Dilemmas, and Therapeutic Innovations.
World neurosurgeryThe truth behind multiple neuroendocrine tumors: Von Hippel-Lindau syndrome and its diagnostic challenges-A case report and literature review.
Science progressCortical hypertrophy of the contralateral hemisphere after hemispherotomy in children with Sturge-Weber syndrome: A longitudinal volumetric study.
EpilepsiaExtracellular matrix remodeling and endothelial fibrosis in Sturge-Weber syndrome secondary glaucoma: Insights from aqueous humor proteomics.
Experimental eye researchMAPK signaling and angiopoietin-2 contribute to endothelial permeability in capillary malformations.
Proceedings of the National Academy of Sciences of the United States of AmericaIntra- and inter-tumoural heterogeneity in von Hippel-Lindau disease-related renal cancer: a multimodal data study protocol.
European radiology experimentalTypes of pancreatic lesions and the mutational landscape of the VHL gene in patients with von Hippel-Lindau disease.
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]Identification of a VHL germline deletion in a family with Von Hippel-Lindau syndrome using MLPA-NGS.
BMC medical genomicsAll-in-One Case: Comprehensive Detection of VHL Syndrome With 68 Ga-DOTATATE PET/CT.
Clinical nuclear medicineSturge-Weber Syndrome Without Cutaneous Stigmata Versus Encephalocraniocutaneous Lipomatosis Without Craniocutaneous Lipomatosis: A Case Report.
WMJ : official publication of the State Medical Society of WisconsinBelzutifan for patients with Von Hippel-Lindau (VHL) disease-associated heterogeneous tumors - a retrospective single center analysis.
BMC cancer[Cystic-solid transformation of the pancreas and kidneys due to von Hippel-Lindau disease].
KhirurgiiaBeyond the leptomeningeal angioma: a comprehensive review of MR imaging features of Sturge-Weber Syndrome, from early vascular responses to tissue necrosis.
Pediatric radiologyEarly Magnetic Resonance Imaging as a Screen for Sturge-Weber Syndrome-Related Seizures in Infants With Upper-Facial Capillary Malformations.
Pediatric dermatologyLaparoscopic Left Hepatectomy for Slowly Progressing Primary Hepatic Carcinosarcoma Associated With Von Hippel-Lindau Disease.
Asian journal of endoscopic surgeryHigh-Flow and Low-Flow Cerebrovascular Malformations Syndromes Associated With Klippel-Trénaunay and Parkes-Weber Syndromes. A Systematic Review.
Pediatric neurologyMathematical modeling and simulation of tumor-induced angiogenesis in retinal hemangioblastoma.
PLoS computational biologyThe safety profile of belzutifan in renal tumors: real-world data from a tertiary academic center.
The oncologistSturge-Weber syndrome Type I: a rare case report.
Annals of medicine and surgery (2012)Klippel-Trenaunay Syndrome with Chronic Thromboembolic Pulmonary Hypertension Treated with Balloon Pulmonary Angioplasty.
Pneumologie (Stuttgart, Germany)Presentation, management, and clinical outcomes of von Hippel-Lindau syndrome.
Hong Kong medical journal = Xianggang yi xue za zhiNew Onset of Seizures Leading to the Delayed Diagnosis of Sturge-Weber Syndrome in Adulthood: A Case Report.
CureusBiomarker development in Sturge-Weber syndrome.
Journal of neurodevelopmental disordersRecurrent Cellulitis in the Intergluteal Area in a Pediatric Patient with Klippel-Trenaunay Syndrome.
Rhode Island medical journal (2013)Extensive metameric involvement in Cobb syndrome presenting as compressive myelopathy.
BMJ case reportsNeurodevelopmental milestone acquisition following early hemispherotomy in Sturge-Weber syndrome.
SeizureThe impact of surgery on patients with Von Hippel-Lindau-associated tumors: an international patient survey.
The oncologistAbsence of Deep and Basal Veins Is Common and Clinically Relevant in Sturge-Weber Syndrome.
Pediatric neurologyCharacterization of autopsy findings including multivisceral glomeruloid vascular bodies in hereditary thrombotic thrombocytopenic purpura with two new variants in ADAMTS13 gene.
Virchows Archiv : an international journal of pathologyProteomic characterization of the pseudocapsule of clear cell renal cell carcinoma in VHL disease reveals a distinct microenvironment at the tumor boundary zone.
Neoplasia (New York, N.Y.)Von Hippel-Lindau Disease.
Advances in experimental medicine and biologyManagement of PTHrP-mediated hypercalcaemia presenting with pseudoangiomatous stromal hyperplasia (PASH) in pregnancy.
BMJ case reportsDetection of VHL variant on multigene panel testing for hereditary breast cancer: Implications for genetic counselling.
Cancer geneticsKlippel-Trenaunay Syndrome in the Distal Part of the Unilateral Upper Limb and Venous Deficiency: A Case Report.
JNMA; journal of the Nepal Medical AssociationBilateral Borderline Serous Tumor of Fallopian Tube in a Child With Klippel-Trenaunay Syndrome: An Exceptionally Rare Combination.
International journal of gynecological pathology : official journal of the International Society of Gynecological PathologistsCase report: Nephrotic syndrome induced by Lenvatinib treatment in a patient with von Hippel-Lindau syndrome.
BMC nephrologySturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different types.
Orphanet journal of rare diseasesLeptomeningeal metastasis with sturge-weber syndrome-like gyriform calcification on imaging: a case report.
BMC neurologyMultisegmental spinal arteriovenous malformation associated with the Parkes-Weber syndrome: A case report and literature review.
MedicineOutcomes After Stereotactic Radiosurgery for Intracranial Hemangioblastoma in Von Hippel-Lindau Disease and Sporadic Cases: An International Multicenter Study.
NeurosurgerySyndromic capillary malformation with leg length discrepancy: Parkes-Weber syndrome treated by embolization, chemotherapy and Ilizarov technique.
HereditasCRISPR/Cas9-mediated editing of VHL in induced pluripotent stem cells: A model for early cell fate in von Hippel-Lindau syndrome.
Stem cell researchPseudohypoxia caused by germline genetic alterations in the VHL gene is associated with increased diabetes and cardiovascular risk: a UK biobank study.
Cardiovascular diabetologyUnilateral Pheochromocytoma in Von Hippel-Lindau Syndrome Revealed by a Hemangioblastoma.
Kathmandu University medical journal (KUMJ)Capillary malformations updates on aetiopathogenesis, diagnosis, and management.
Presse medicale (Paris, France : 1983)Minimal invasive vertical hemispherotomy in a 2.5-month-old infant with hemispheric Sturge-Weber Syndrome and recurrent status epilepticus using neuronavigation and augmented reality support.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryPrimary Diffuse Leptomeningeal Melanomatosis Initially Misdiagnosed as Type III Sturge-Weber Syndrome: A Case Report and Systematic Review of the Literature.
World neurosurgeryEffects and recurrence of proton beam therapy for retinal detachment due to choroidal hemangioma in Sturge-Weber syndrome patients: A case report.
MedicinePortal vein dilation in Klippel-Trenaunay and CLOVES syndromes.
International angiology : a journal of the International Union of AngiologyBilateral Sturge-Weber syndrome with soft tissue hypertrophy and trichomegaly.
BMJ case reportsSturge-Weber syndrome causing choroidal haemangioma and serous retinal detachment: an overlooked diagnosis in a black patient.
BMJ case reportsNovel Presentation of Sturge-Weber Syndrome in a Boy With a Port-Wine Birthmark.
Case reports in pediatricsGenetics and current research models of Mendelian tumor predisposition syndromes with ocular involvement.
Progress in retinal and eye researchThe Psychiatric Manifestations of Sturge Weber Syndrome: A Scoping Review.
Journal of child neurologySturge-Weber Syndrome: A Narrative Review of Clinical Presentation and Updates on Management.
Journal of clinical medicineGenotype-specific neoplastic risk profiles in patients with VHL disease.
Endocrine-related cancerRecurrent preeclampsia in a pregnant woman with Klippel-Trenaunay syndrome: two cesarean deliveries and multiple extremity involvement - a case report and literature review.
BMC pregnancy and childbirthSystemic barriers to rare disease management in conflict zones: insights from a refugee with sturge-weber syndrome in Sudan.
Journal of health, population, and nutrition[Klippel-Trenaunay syndrome: report of a case].
Zhonghua bing li xue za zhi = Chinese journal of pathologyOutcomes of Gonioscopy-Assisted Transluminal Trabeculotomy in Children with Early-Onset Glaucoma Secondary to Sturge-Weber Syndrome.
Ophthalmology. GlaucomaTriple pathology in a patient with uncontrolled epilepsy: a case report.
Journal of medical case reportsMosaic Form of von Hippel-Lindau Syndrome: Case Report and Literature Review.
International journal of molecular sciencesIsolated leptomeningeal angiomatosis in Sturge-weber syndrome type III: A case report with distinctive neuroimaging features.
Radiology case reportsEpilepsy surgery in Sturge-Weber syndrome with unilateral or bilateral asymmetric brain involvement: Boston Children's Hospital experience.
EpilepsiaPancreatic Serous Neoplasm and Metastatic Clear Cell Renal Cell Carcinoma: Diagnostic Pitfalls Resolvable by a Panel of Immunohistochemical Stains to Include PAX8 and CK7 But Not CAIX.
The American journal of surgical pathologySuccessful treatment of choroidal hemangiomas in Sturge-Weber syndrome using external beam radiotherapy.
BMC ophthalmologyVon Hippel-Lindau syndrome with bilateral renal and an interaortocaval mass.
BMJ case reportsVon Hippel-Lindau syndrome: clinical features, genetic foundations, and management strategies.
Molecular biology reportsFirst Single-Centre Experience with the Novel HIF-α Inhibitor Belzutifan in Switzerland.
Current oncology (Toronto, Ont.)Klippel-Trenaunay syndrome with multiorgan vascular involvement and gastrointestinal bleeding: A case report and literature review.
MedicineThe natural history of pediatric Sturge-Weber Syndrome: A multinational cross-sectional study.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyEpilepsy surgery in patients with Sturge-Weber Syndrome.
Epilepsy & behavior : E&BIntravitreal Aflibercept for Diffuse Choroidal Hemangioma in Sturge-Weber Syndrome.
Middle East African journal of ophthalmologyTranscriptomic Profiling Unveils EDN3+ Meningeal Fibroblasts as Key Players in Sturge-Weber Syndrome Pathogenesis.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Exploring the Efficacy and Safety of Vagus Nerve Stimulation for the Treatment of Epilepsy in Patients With Sturge-Weber Syndrome: A Pilot Study.
Pediatric neurologyMultidisciplinary, multicenter consensus for the care of patients affected with Sturge-Weber syndrome.
Orphanet journal of rare diseasesChoroidal Hemangioma Treatment with Propranolol - A Case Study in Sturge-Weber Syndrome and Systematic Literature Review.
Seminars in ophthalmologyNew Developments in VHL-Associated Neuroendocrine Neoplasms.
Current oncology reportsSWI brush sign of cerebral parenchymal veins in central nervous system diseases.
Japanese journal of radiologyPediatric Meningeal Diseases: What Radiologists Need to Know.
Tomography (Ann Arbor, Mich.)Genetic syndromes associated with pancreatic neuroendocrine neoplasms and imaging diagnostic strategies.
Abdominal radiology (New York)[Diagnostic and therapeutic perspectives in RASopathies].
Magyar onkologia[Stereotactic radiotherapy of spinal hemangioblastoma].
Zhurnal voprosy neirokhirurgii imeni N. N. BurdenkoMacular edema in Wyburn-Mason syndrome: Resolution with anti-VEGF intravitreal injections. Case report and review of the literature.
American journal of ophthalmology case reportsPhenotypic Spectrum of GNA11 R183C Mosaicism.
Pediatric dermatologyA Review of Sturge-Weber Syndrome Brain Involvement, Cannabidiol Treatment and Molecular Pathways.
Molecules (Basel, Switzerland)Bean-Syndrome in Maxillofacial District.
Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of IndiaDentistry and Sturge-Weber syndrome: Case report and narrative review.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry[Circumscribed choroidal hemangioma in Sturge-Weber syndrome].
Pathologie (Heidelberg, Germany)Klippel-Trénaunay-Weber Syndrome: Prenatal Diagnosis and Review of the Literature.
Journal of clinical ultrasound : JCUDistribution of Port-Wine Birthmarks and Glaucoma Outcomes in Sturge-Weber Syndrome.
Ophthalmology. GlaucomaSturge-Weber syndrome: an overview of history, genetics, clinical manifestations, and management.
Seminars in pediatric neurologyUnique properties of clinical manifestation and magnetic resonance imaging for differential diagnosis of optic nerve hemangioblastoma.
Eye (London, England)Wyburn-Mason Syndrome: A Narrative Review.
CureusSimilarities and differences between brain and skin GNAQ p.R183Q driven capillary malformations.
AngiogenesisPhenotypic and Genotypic Features of a Chinese Cohort with Retinal Hemangioblastoma.
GenesCase Report: Clinical manifestations and treatment of two Chinese patients with FINCA syndrome carrying a novel variant of NHLRC2.
Frontiers in pediatricsEnhancing neurosurgical interventions for Sturge-Weber syndrome with AI technologies.
Neurosurgical reviewLooks can be deceiving: An appraisal of Sturge weber syndrome type III case series.
Brain & developmentExtensile Anterior Approach for Total Hip Arthroplasty in a Patient with Crowe IV Hip Dysplasia and Klippel-Trénaunay Syndrome: A Case Report.
JBJS case connectorObstetric management for pregnant women with Klippel-Trenaunay syndrome: A UK case report and review of the literature.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and ObstetricsDeath in a bathtub of an adolescent with neurofibromatosis type 2 exhibiting meningioangiomatosis with white matter involvement.
Forensic science, medicine, and pathologyFeasibility and Potential Diagnostic Value of Noncontrast Brain MRI in Nonsedated Children With Sturge-Weber Syndrome and Healthy Siblings.
Journal of child neurologyThe genetic differences between types 1 and 2 in von Hippel-Lindau syndrome: comprehensive meta-analysis.
BMC ophthalmologyAssessment of the Corneal Biomechanical Features of Sturge-Weber Syndrome Using Dynamic Ultrahigh-speed Scheimpflug Imaging.
CorneaAlternative Venous Pathways: A Potential Key Imaging Feature for Early Diagnosis of Sturge-Weber Syndrome Type 1.
AJNR. American journal of neuroradiologyBacillary Angiomatosis in a Patient With HIV and Disseminated Mycobacterium avium Complex Infection.
CureusEvaluating the Urinary Exosome microRNA Profile of von Hippel Lindau Syndrome Patients with Clear Cell Renal Cell Carcinoma.
GenesHeadache in Sturge-Weber syndrome: A systematic review.
Cephalalgia : an international journal of headacheBilateral ocular manifestations of Sturge-Weber syndrome: a rare case report.
Romanian journal of ophthalmologyPulmonary Embolism in Klippel-Trenaunay-Weber Syndrome With Slipped Capital Femoral Epiphysis.
Journal of the American Academy of Orthopaedic Surgeons. Global research & reviewsAn Atypical Seizure Onset and Re-Emergence in a Refugee with an Undiagnosed Sturge-Weber Syndrome: A Case Report from a Limited Setting.
International medical case reports journalSeizure, Motor, and Cognitive Outcomes After Epilepsy Surgery for Patients With Sturge-Weber Syndrome: Results From a Multicenter Study.
NeurologyDiagnostic pathway and management of first seizures in infants with Sturge-Weber syndrome.
Developmental medicine and child neurologyRadio-pathologic correlation: no pial angioma-subarachnoid varicose network drainage pathway in Sturge-Weber syndrome.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryComparison of 68 Ga-DOTATATE PET/CT and 123 I-MIBG SPECT/CT in the Imaging of Functional Pheochromocytoma in an Adolescent Patient With Von Hippel-Lindau Syndrome.
Clinical nuclear medicineUnmasking Sturge-Weber syndrome in adulthood: a case with extrafacial port-wine stain and delayed neurological symptoms.
Annals of medicine and surgery (2012)Discovering a novel genetic variant in 11 family members who had isolated pheochromocytoma linked to von Hippel-Lindau (VHL) syndrome, aligning with the type 2c phenotype.
Blood pressureComputed tomography-guided percutaneous cryoablation of hereditary adrenal pheochromocytoma in three patients.
Journal of pediatric endocrinology & metabolism : JPEMSuccessful interventional treatment of proximal deep vein thrombosis in klippel-trenaunay syndrome.
Cardiovascular intervention and therapeuticsCharacteristics, aetiology and implications for management of multiple primary renal tumours: a systematic review.
European journal of human genetics : EJHGUnilateral Glaucoma Without Facial Angioma in a Pediatric Patient: A Suspected Sturge-Weber Syndrome Variant.
Journal of pediatric ophthalmology and strabismusVariation in neuroimaging and outcomes in patients with Sturge Weber syndrome Type III.
Brain & developmentCentralization of care for rare genetic syndromes associated with cancer: improving outcomes and advancing research on VHL disease.
Nature reviews. UrologyPancreatic Neuroendocrine Tumors in French VHL Mutation Carriers.
The Journal of clinical endocrinology and metabolismUpper-Extremity Klippel-Trenaunay Syndrome.
Rhode Island medical journal (2013)Sturge-Weber syndrome: an update for the pediatrician.
World journal of pediatrics : WJPScreening and surveillance recommendations for central nervous system hemangioblastomas in pediatric patients with Von Hippel-Lindau disease.
Journal of neuro-oncologyOral Sirolimus for Diffuse Choroidal Hemangioma in Sturge-Weber Syndrome.
JAMA ophthalmology24-Year-Old Patient with Klippel-Trenaunay Syndrome Underwent Cementless Robotic Cruciate-Retaining TKA: A Case Report.
JBJS case connector68 Ga-DOTANOC PET/CT in 2 Siblings With Von Hippel-Lindau Disease.
Clinical nuclear medicineMRC1 and LYVE1 expressing macrophages in vascular beds of GNAQ p.R183Q driven capillary malformations in Sturge Weber syndrome.
Acta neuropathologica communicationsExtensive Spinal Hemangioma Associated With Cutaneous Nevus in the Same Metamere: An Unusual Case of Paraplegia in the Peripartum Period.
CureusA Woman with Klippel-Trenaunay Syndrome Reproductive Tract Bleeding Case Report and Review of the Literature.
Alternative therapies in health and medicineSurgical Outcomes of Early Versus Late Onset Glaucoma Associated With Sturge-Weber Syndrome.
Journal of glaucomaKlippel-Trenaunay syndrome or not? An exploration of atypical presentations.
BMJ case reports[Preclinical diagnostics of von Hippel-Lindau syndrome in a child].
Problemy endokrinologiiSturge-Weber syndrome with massive macroglossia and anterior neck space infection- a case report and review of literature.
JPMA. The Journal of the Pakistan Medical AssociationHemangiomatosis of the spleen in a patient with Klippel-Trenaunay syndrome: A case report.
Indian journal of pathology & microbiologyHereditary Renal Cancer Syndromes.
Medical sciences (Basel, Switzerland)KTWS (Klippel-Trenaunay-Weber syndrome): A systematic presentation of a rare disease.
Journal of cosmetic dermatologyCT-derived radiomics predict the growth rate of renal tumours in von Hippel-Lindau syndrome.
Clinical radiologyRecurrent hematuria involving urinary system with Klippel-Trenaunay syndrome: A case report.
MedicineA case report of cerebellar hemangioblastoma simulated brain metastasis shown by magnetic resonance imaging.
MedicineAl18F-NOTA-Octreotide PET/CT and 18F-FDG PET/CT for Detecting Cerebellar Hemangioblastoma in a Patient With Von Hippel-Lindau Disease.
Clinical nuclear medicineNeurological function and drug-refractory epilepsy in Sturge-Weber syndrome children: a retrospective analysis.
European journal of pediatricsSturge-Weber Syndrome: A Case Report.
JNMA; journal of the Nepal Medical AssociationKidney transplant and Klippel-Trenaunay-Weber syndrome: an unusual association.
NefrologiaTotal knee arthroplasty in patients with Klippel Trenaunay syndrome and knee osteoarthritis: A case report and a literature review.
MedicineClinical and pathologic features of Sturge-Weber syndrome in patients with refractory epilepsy.
American journal of clinical pathologyTreatment Outcomes of Primary Combined Trabeculotomy With Trabeculectomy in Early Onset Glaucoma With Sturge-Weber Syndrome.
Journal of glaucomaMultiple Lymphaticovenular Anastomoses for Chyluria in Klippel-Trenaunay Syndrome.
Annals of plastic surgeryValue of the short time inversion recovery sequence of magnetic resonance imaging in the staging of Klippel-Trenaunay syndrome complicated with lymphedema.
Journal of vascular surgery. Venous and lymphatic disordersManagement of Renal Malignancies in Von Hippel-Lindau Syndrome: Lessons Learned from a Series of Six Patients from Sri Lanka.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi ArabiaThe Prospective Natural History Study of Patients with Intractable Venous Malformation and Klippel-Trenaunay Syndrome to Guide Designing a Proof-of-Concept Clinical Trial for Novel Therapeutic Intervention.
Lymphatic research and biology[The epidemiology of primary brain malignancies].
Magyar onkologiaImages in Vascular Medicine: A case of Klippel-Trenaunay syndrome.
Vascular medicine (London, England)Successful Treatment Response of a Juxtapapillary Retinal Capillary Hemangioblastoma Due to von Hippel-Lindau Syndrome with Belzutifan in a Pediatric Patient.
Retina (Philadelphia, Pa.)Subcutaneous Cavernous Haemangioma in a Patient with Klippel-Trenaunay Syndrome: A Case Report.
Current medical imagingThe von Hippel-Lindau protein forms fibrillar amyloid assemblies that are mitigated by the anti-amyloid molecule Purpurin.
Biochemical and biophysical research communicationsA nonsense mutation in VHL causing Von Hippel-Lindau syndrome in a large Chinese family-a genetic study of familial neoplastic disease.
The International journal of neuroscienceThe kidney imaging surveillance scoring system (KISSS): using qualitative MRI features to predict growth rate of renal tumors in patients with von-Hippel Lindau (VHL) syndrome.
Abdominal radiology (New York)Hypothalamic-pituitary dysfunction in Sturge-Weber syndrome: case report and review of the literature.
Journal of pediatric endocrinology & metabolism : JPEMvon Hippel-Lindau disease-related neoplasia with an emphasis on renal manifestations.
Seminars in diagnostic pathologyUpdate of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.
Journal of medical geneticsNeurocutaneous Disorders in Pregnancy.
Obstetrical & gynecological surveyBELZUTIFAN FOR TREATMENT OF GIANT RETINAL HEMANGIOBLASTOMA WITH EXTRASCLERAL EXTENSION ASSOCIATED WITH VON HIPPEL-LINDAU SYNDROME.
Retinal cases & brief reports[Surgical treatment of pheochromocytoma].
Problemy endokrinologiiDeterminants of Functional Outcome after Pediatric Hemispherotomy.
Annals of neurologyHemangioblastomas of the cauda equina: Clinical features and long-term surgical outcomes.
Neuro-ChirurgieSturge-Weber Syndrome and Hippocampal Sclerosis: Two Epileptogenic Conditions in One Patient.
Neurology IndiaActive and passive mechanical characterization of a human descending thoracic aorta with Klippel-Trenaunay syndrome.
Journal of the mechanical behavior of biomedical materialsLetter Regarding "Clinicopathological Analysis of Sturge-Weber Syndrome With Focal Cortical Dysplasia FCD IIIc".
Fetal and pediatric pathologySturge-Weber syndrome type III: an important stroke mimic.
BMJ case reportsKlippel-Trenaunay syndrome and pregnancy: A Case-Report.
European journal of obstetrics, gynecology, and reproductive biologyA Patient with Klippel-Trenaunay Syndrome and Mild Ophthalmic Manifestations.
The Israel Medical Association journal : IMAJ18 F-PSMA-1007 PET/CT in a Case of Von Hippel-Lindau Syndrome.
Clinical nuclear medicineStereotactic irradiation for optic nerve hemangioblastoma associated with Von Hippel-Lindau disease: a case report and literature review.
Zhurnal voprosy neirokhirurgii imeni N. N. BurdenkoNeurofibromatosis type1, type 2, tuberous sclerosis and Von Hippel-Lindau disease.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryArterial spin-labeled (ASL) perfusion in children with Sturge-Weber syndrome: a retrospective cross-sectional study.
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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.
- Unusual association: Sturge-Weber syndrome with Klippel-Trenaunay syndrome.
- Whole-Genome Landscape of Retinal Hemangioblastomas.
- Psychosocial Outcomes in Patients With Endocrine Tumor Syndromes: A Systematic Review.
- [Calcinosis cutis in a hemodialysis patient with Von Hippel-Lindau disease].
- Unilateral port wine stain on the face: a case report and review.Canadian journal of dental hygiene : CJDH = Journal canadien de l'hygiene dentaire : JCHD· 2026· PMID 41799548mais citado
- Extensive metameric involvement in Cobb syndrome presenting as compressive myelopathy.
- [Preclinical diagnostics of von Hippel-Lindau syndrome in a child].
- [Surgical treatment of pheochromocytoma].
- Hemangioblastomas and Other Vascular Origating Tumors of Brain or Spinal Cord.
- Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:621758(Orphanet)
- OMIM OMIM:618278(OMIM)
- MONDO:0032651(MONDO)
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q122904140(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