Dural Sinus Malformation Research Articles

Cerebrofacial Venous Metameric Syndrome Mimicking Vein of Galen Aneurysmal Malformation

Cerebrofacial venous metameric syndrome (CVMS) is a complex low-flow vascular malformation affecting bone and soft tissues including brain, dura mater, and eye. We show images of CVMS in an 18-month-old boy presenting facial venous malformations, developmental venous anomalies, dural sinus malformations, and dilated great cerebral vein, suggesting a vein of Galen aneurysmal malformation. Although Sturge-Weber syndrome is the most known form of CVMS, its presentations are variable and include several venous malformations. Recognizing the various manifestations of CVMS is necessary for adequate screening, treatment, and follow-up.

Cerebral Doppler imaging in neonates: A guide for clinical application and diagnosis.

Cranial ultrasound reliably diagnoses many neonatal brain disorders. Adding Doppler imaging expands the spectrum by providing information on the status of the vasculature and haemodynamics that may guide further diagnostic and clinical management. Doppler imaging may identify neonates with congenital or acquired vascular abnormalities such as perinatal stroke, sinuvenous thrombosis, vein of Galen malformation, dural sinus malformation, sinus pericranii, and developmental venous anomaly. These entities may need further investigation with complementary imaging modalities such as magnetic resonance imaging and magnetic resonance angiography, or conventional angiography. This review aims to help clinicians to improve their Doppler sonography knowledge and skills in order to use this helpful tool in neonates with neurological symptoms or suspected cerebral vascular abnormalities admitted to the neonatal intensive care unit.

Imaging Assessment of Fetal Cerebrovascular Anomalies.

Four distinct vascular anomalies can be seen to affect the brain on fetal imaging: vein of Galen malformations, non-galenic arteriovenous pial fistulas, dural sinus malformations, and intracranial venous malformations. These congenital disorders affect the arteries and veins of the developing brain and are rarely seen beyond the neonatal stage. The four fetal cerebrovascular anomalies are associated with quite disparate natural histories and prognoses. MRI plays a pivotal role in the evaluation of fetuses with these conditions due to its ability to definitively establish the diagnosis, to detect subtle parenchymal injuries, to delineate the course of abnormal vessels in detail and to some extent the nature of vascular flow, and to identify ischemic, thrombotic, and hemorrhagic complications. Recently, an investigational transurterine embolization procedure targeted at treating fetuses with vein of Galen malformations who are at high risk for neonatal decompensation has emerged as a promising alternative to expectant management and post-natal embolization, with imaging being used to identify suitable patients for the intervention and in pre-procedural planning. This manuscript reviews the essential imaging and clinical features of these four fetal neurovascular anomalies and underscores the practical aspects related to counseling, prognosis, and the multidisciplinary management of these entities.ABBREVIATIONS: ACVRL1= activin A receptor like type 1; b-SSFP=Balanced Steady State Free precession; DSM= Dural Sinus Malformation; Ephrin B4= Ephrin type-B receptor 4; icVM= Intracranial Venous Malformation; ITGB1= Integrin Subunit Beta 1; NOTCH1= Neurogenic locus notch homolog protein 1; PTPN11= Protein Tyrosine Phosphatase Non-Receptor Type 11; RASA1= RAS P21 Protein Activator 1; SSFSE= Single-shot fast spin echo; VOGM=Vein of Galen Malformation.

Paediatric intracranial dural arteriovenous fistulas: clinical characteristics, treatment outcomes and prognosis

BackgroundCompared with dural arteriovenous fistulas (DAVFs) in adult, paediatric DAVFs are notable for distinct clinical manifestations, low cure rate and poor prognosis. However, due to the limitations of small sample...

Prenatal diagnosis of dural sinus malformation by two-dimensional combined with three-dimensional ultrasound: a case description.

Prenatal diagnosis of dural sinus malformation by two-dimensional combined with three-dimensional ultrasound: a case description.

Intracranial arteriovenous shunts in infants: A decade of experience from a quaternary pediatric center.

Intracranial arteriovenous shunts (IAVS) are rare vascular diseases in infants. They can be categorized into vein of Galen aneurysmal malformation (VGAM), pial arteriovenous fistula (PAVF), and dural arteriovenous fistula associated with dural sinus malformation (DAVF/DSM). We sought to review the clinical presentation, imaging characteristics, endovascular treatment (EVT), and outcomes of IAVS in infants presenting to a quaternary pediatric referral center over one decade. A retrospective review of a prospectively maintained database was performed of all infants diagnosed with IAVS between January 2011 and January 2021 in a quaternary pediatric referral center. For each patient, demographic data, clinical presentation, imaging findings, management strategies, and outcomes were reviewed and discussed. Over the study period, 38 consecutive infants were diagnosed with IAVS. Patients with VGAM (23/38, 60.5%) presented with congenital heart failure (CHF) (14/23), hydrocephalus (4/23), and seizures (2/23), and three patients were asymptomatic. Eighteen patients with VGAM underwent EVT. Among those, 13 patients (72.2%) were successfully treated with an angiographic cure and three patients (3/18, 17%) died. Patients with PAVF (9/38, 23.7%) presented with CHF (5/9), intracranial hemorrhage (2/9), and seizures (2/9), and all of them were successfully treated endovascularly. Patients with Type I DAVF/DSM (4/6, 66.6%) presented with mass effect (2/4), cerebral venous hypertension (1/4), CHF (1/4), and cerebrofacial venous metameric syndrome (1/4). Patients with type II DAVF/DSM (2/6, 33.3%) presented with a thrill behind the ear. Patients with DAVF/DSM were treated endovascularly, five patients were cured, and one with type I DAVF/DSM died. Intracranial arteriovenous shunts are rare but potentially life-threatening neurovascular pathologies in infants. Endovascular treatment is challenging but feasible in carefully selected patients.

Remodeling of venous drainage after the treatment of dural sinus malformation with arteriovenous shunts in a neonate: a case report and literature review.

Dural sinus malformations (DSMs) are rare congenital vascular diseases characterized by a giant venous pouch with or without arteriovenous shunts. We present a neonatal case of DSM that was diagnosed prenatally and treated via endovascular intervention in the early postnatal period. The patient presented with a large DSM involving the torcular Herophilion prenatal magnetic resonance imaging (MRI). Enlargement of the head circumference and respiratory failure rapidly progressed after birth. On the 5th day after birth, the neonate underwent endovascular occlusion via the umbilical artery. The arteriovenous shunt was occluded, and the reflux from the enlarged venous pouch to the dural sinus was decreased. No additional procedure other than ventriculoperitoneal shunting was required. The neonate's development slowly caught up to normal parameters. Follow-up MRI demonstrated the successful development of the venous drainage system. DSMs are characterized by an abnormally dilated dural sinus, which can block the venous return and ultimately increase intracranial pressure and cerebral ischemia. Long-term follow-up indicates that an abnormally developed dural sinus can be reconstructed by appropriate and timely treatment.

Abstract Number ‐ 116: Palliative Embolization on an Infantile Dural Sinus Malformation with Giant Lakes.

Introduction Dural Sinus Malformation (DSM) is a rare and high risk mortality vascular pathology identified early postnatal due to common clinical symptoms like macrocephaly, downward wandering eyes, bulging and pulsatile fontanels and heart failure. Most DSMs resolves prenatally. It is characterized by giant venous lake at the torcular region expanding towards the infratentorial and supratentorial spaces with usually existence of Dural arteriovenous fistulas (dAVF). Pathophysiology of DSMs are ballooning and malformation of the distal jugular bulb or persistence abnormal of the transverse sinus. Methods We performed the staged trans arterial Onyx‐18 embolization 5 times of a 3 mo infant boy with dural sinus malformation with multiple arteriovenous fistula using the 4 French GlideSim 2 Catheter, Headway Duo 167 micro catheter, and numerous microwires including Aristotle 014, Chikai Black Soft 014 and 010 and Synchro 014, 010 and 080 through alternated sides of transfemoral accesses. Embolizations were performed through the bilateral branches of the left and right middle meningeal arteries, posterior meningeal arteries and left occipital artery. Limitations during procedure are body weight to use contrast, fluoroscopy time and access sides. Results Post embolization injections demonstrated significant flow reduction into the malformation through ECA branches. No neurological complications occurred due to the procedures. MRI Brains in following weeks did not show large thrombus formation, hydrocephalus, or parenchymal injury. Patient showed clinical improvements with stable macrocephaly and decreased frontal pulsation and bulging. Conclusions Staged trans arterial embolization seems a safe approach on high mortality DSM. Thrombus is not formed all at once and mass effect from thrombosed sinus is avoided. Sinus has time to shrink.

Torcular Dural Sinus Malformation: Fetal and Postnatal Imaging Findings and Their Associations With Clinical Outcomes

BackgroundTorcular dural sinus malformations (tDSMs) are rare vascular malformations that present in fetuses and infants. Existing data on prognostic imaging features, as well as the associated morbidity and mortality, are limited and variable. We therefore reviewed cases of tDSMs diagnosed on fetal magnetic resonance imaging (MRI) at our referral center to identify pre- and postnatal MRI imaging features associated with long-term outcomes. MethodsWe searched our imaging database for fetal and postnatal MRI reports of tDSM cases. The electronic medical record was then reviewed for pre- and postnatal clinical data, including follow-up imaging. Neurological outcomes were characterized using the previously reported scale based on the Bicêtre Score. Imaging features association with outcome scores were compared using the Fisher exact test. ResultsSixteen cases of tDMS diagnosed by fetal MRI with postnatal clinical follow-up were identified, 11 of whom underwent postnatal MRI. The majority of cases of tDSM (73%) decreased in size or resolved on postnatal follow-up study without treatment. Restricted diffusion and parenchymal hemorrhage on fetal MRI were the only imaging features identified significantly associated with unfavorable neurological outcome or death, present in two patients with poor outcomes (two of two) and only one with a normal outcome (one of 14) (P = 0.025). ConclusionsFindings of tDSM on fetal MRI most often regress and/or resolve with normal or mild neurological outcomes, with the most significant predictor of poor outcome being the presence of parenchymal injury on fetal MRI. In addition, a subset will present with venolymphatic malformations.

Paediatric intracranial dural arteriovenous shunts: types, clinical presentation and therapeutic management.

Paediatric intracranial dural arteriovenous shunts have clinical presentations and evolutions, with angiographic characteristics that differ from those described in adults. We report our experience concerning their therapeutic management, emphasizing the relevance of early diagnosis and appropriate treatment for satisfactory neurocognitive development. Using a prospective database, we reviewed the clinical and radiological data of all children with dural arteriovenous shunts managed between 2002 and 2020. Dural shunts were categorized into three types: dural sinus malformations with arteriovenous shunts; infantile dural arteriovenous shunts; and adult-type dural arteriovenous shunts. Therapeutic strategies and outcomes were analysed depending on lesional subtypes. Modified Rankin Scale for the paediatric population was assessed pre-treatment and at last follow-up. Twenty-eight patients [16 girls (57.1%); 12 boys (42.9%)] were included: 17 dural sinus malformation [10 boys (58.8%); seven girls (41.2%)], three infantile shunts [three girls (100%)], eight adult-type shunts [four girls (50%)]; four boys (50%)], with a mean age of 19.2 ± 36.6 months at presentation. Twelve (42.9%) had a modified Rankin Scale score of 0–2, four (14.3%) had a score of 3, three (10.7%) had a score of 4 and eight (28.6%) had a score of 5. Embolization was performed in 22 children [78.6%; 12 girls (54.5%); 10 boys (45.5%)]. Fifteen patients could be cured (68.2%): 11 dural sinus malformations (73.3%), four adult-type lesions (100%) but no infantile shunt. Mean post-treatment follow-up was 39.5 months (max. 139 months): 14 patients (63.6%) presented a modified Rankin Scale score of 0–2 and eight (36.4%) had a score ≥3. In the dural sinus malformation group, the modified Rankin Scale score was improved in 11 patients (73.3%) and unchanged in three (20%). Only one patient with infantile subtype (33.3%) improved clinically. In the adult-subtype group, all children (100%) improved. Of six untreated patients [four girls (66.7%); two boys (33.3%)], four with adult-subtype shunts showed uneventful evolutions, one with dural sinus malformation died, and therapeutic abortion was conducted in an antenatally diagnosed dural sinus malformation. Paediatric dural fistulas comprise different subtypes with variable clinical courses. Proper diagnosis is mandatory for optimal therapeutic strategies within appropriate therapeutic windows.

Torcular Dural Sinus Malformation in the Early Childhood: A Case Report

Arteriovenous malformations (AVM) are rare diseases in pediatric age groups, and dural sinus malformation (DSM) has a lower incidence rate. DSMs are associated with mild male dominance, and onset symptoms appear around 5 months of age. The most common clinical presentation is macrocrania, seizures, psychomotor delay, intracranial hemorrhage, congestive heart failure, and brain ischemia. Early recognition of these lesions is essential to prevent brain injury for ischemia and intracranial hypertension. Case description: We discuss the case of a 8 month-old boy presenting with macrocrania secondary to atorcular dural sinus malformation. This case was successfully treated by the endovascular procedure, reaching the goal of the treatment to obliterate the arterial portion of the fistula while preserving cerebral venous drainage to reduce the pial reflux to prevent venous hypertension and ischemic complications. Bang. J Neurosurgery 2021; 11(1): 41-44

The growth and expansion of meningeal lymphatic networks are affected in craniosynostosis.

Skull malformations are associated with vascular anomalies that can impair fluid balance in the central nervous system. We previously reported that humans with craniosynostosis and mutations in TWIST1 have dural venous sinus malformations. It is still unknown whether meningeal lymphatic networks, which are patterned alongside the venous sinuses, are also affected. We now show that the growth and expansion of meningeal lymphatics are perturbed in Twist1 craniosynostosis models. Changes to the local meningeal environment, including hypoplastic dura and venous malformations, affect the ability of lymphatic networks to sprout and remodel. Dorsal networks along the transverse sinus are hypoplastic with reduced branching. By contrast, basal networks closer to the skull base are more variably affected, showing exuberant growth in some animals, suggesting they are compensating for vessel loss in dorsal networks. Injecting a molecular tracer into cerebrospinal fluid reveals significantly less drainage to the deep cervical lymph nodes, which is indicative of impaired lymphatic function. Collectively, our results show that meningeal lymphatic networks are affected in craniosynostosis, suggesting that the clearance of β-amyloid and waste from the central nervous system may be impeded.

Fetal Cerebral Sinovenous Thrombosis and Dural Sinus Malformation

BackgroundFetal cerebral sinovenous thrombosis (CSVT) and dural sinus malformation (DSM) are rare types of fetal cerebral venous pathology that are becoming increasingly recognized as fetal imaging advances. Fetal DSMs are a common source of fetal CSVT, although CSVT may occur without a DSM. The literature on these disorders is limited. MethodsCases of fetal CSVT and DSM were identified retrospectively through a query of the Indiana University Health fetal imaging archive from 2007 to 2021. ResultsSeven cases were identified, all of whom were alive at birth. A DSM was present in six. Treatments after birth included enoxaparin sodium (3), embolization (3), and shunt placements (1). Five cases had documented regression or complete resolution of the thrombus and/or malformation. One was lost to follow-up, one died from complications of hydrocephalus at nine months, one was receiving physical and occupational therapy at last follow-up at three months, one had concern for autism and mild gait abnormality at 21 months, two had concern for speech delay (18 months and 24 months), and one had normal development at most recent follow-up (four years). ConclusionsPositive short-term outcomes may occur for some cases of fetal CSVT and DSM. However, risk factors and best treatments are not clear, and long-term outcome data are limited. There is a need for further study.

Fetal imaging of a rare case of dural sinus malformation: a case report

BackgroundDural sinus malformations (DSM) are rare congenital anomalies, accounting for less than 2% of all intracranial vascular malformations. Fetal MRI plays an important role in the confirmation of the diagnosis, prognostication, and planning of treatment strategies. Here, we present a rare case of dural sinus malformation without thrombosis, diagnosed by prenatal ultrasound and fetal MRI. In addition to this, fetal intracranial 3D gradient recalled echo Dixon-based MRA was done which, to the best of our knowledge, is a first.Case presentationA 24-year-old multigravida with no known comorbidities underwent a routine second trimester anomaly scan in which an unusual posterior interhemispheric cyst was diagnosed. Further evaluation with fetal MRI revealed dilated posterior sinuses and torcula, normal internal jugular vein, and maintained flow voids with no mass effect. Fetal Dixon-based MRA and correlated Doppler revealed supply to the lesion by bilateral occipital arteries and posterior cerebral arteries. With these imaging features, a midline dural sinus malformation was diagnosed.ConclusionDural sinus malformations should be considered in the differential diagnosis of unusual posterior fossa cystic lesions detected on antenatal ultrasound coupled with a colour Doppler examination. Prompt fetal MRI is essential to establish the diagnosis, identify intracranial complications and decide the postnatal treatment strategy, thereby possibly improving the postnatal outcome.

Chapter 16 - Neurovascular disease and syndromes: Diagnosis and therapy in children

The pediatric neurovascular disease runs the chronologic spectrum with dramatic changes in the presentation, evaluation, and treatment from the prenatal, perinatal, and infant periods through childhood and adolescence. These diseases are often dynamic throughout this period and the dynamic continues throughout life. There are four major categories: high-flow arteriovenous shunting lesions, arterial aneurysms, low-flow vascular lesions, and vascular occlusive disease. The high-flow lesions can be subdivided into a vein of Galen malformation, non-Galenic arteriovenous fistula, dural sinus malformations and fistula, and arteriovenous malformation. Low-flow vascular lesions include cerebral cavernous malformation, developmental venous anomaly, and capillary telangiectasia. The cerebrovascular occlusive disease can be divided between arterial occlusive disease and cerebral venous sinus thrombosis. The presentation of each of these entities can be very similar, especially in younger children; however, imaging and laboratory analysis can establish the diagnosis leading to the most appropriate therapy. A multidisciplinary team, dedicated to treating pediatric cerebrovascular disease, is important in delivering the best outcomes in these complex diseases. Given the relative rarity of pediatric presentation of cerebrovascular disease, many apply adult concepts to children. A better understanding of the diseases and their difference from adults makes a critical difference in selecting the correct approach.

Endovascular management of torcular dural sinus malformations in children: the role of straight sinus occlusion

BackgroundTorcular dural sinus malformations (tDSMs) with arteriovenous shunts are rare congenital intracranial vascular malformations that carry a high rate of neurologic impairment and death in the neonatal, infant and young...

Torcular dural sinus malformations: a grading system proposal.

Torcular dural sinus malformations (tDSMs) are congenital complex vascular anomalies often referred as a single unit. Nevertheless, they possess distinct anatomical features, clinical diversity, and markedly different outcomes. On the basis of our institutional experience and analysis of published data, we propose a grading system. We have identified 44 papers to which we added our four institutional cases for a total of 126 patients. Eight predictor variables were studied. In order to assess their individual impact on mortality and possible correlations, a logistic regression model was constructed through a stepwise forward process. Overall mortality was 22.1%. Mortality was higher in tDSM patients diagnosed postnatally, 40.7% versus a 15.6% in prenatally found cases (p = 0.007). We divided the patients into four grades. Grade I comprised patients with no feeder evidence and possessed the best outcomes (mortality of 7.55%). Mortality rose for grades II and III defined respectively by scarce and multiple feeders. Brain damage was the defining feature of grade IV. A mortality of 75% could be observed within this grade. Grade IV was further divided into grades IVa (antenatal) and IVb (postnatal cases). Furthermore, our logistic regression model found that brain damage (OR 11.3, p < 0.001, 95% CI 2.97-42.91) and patent feeders (OR 4, p = 0.03, 95% CI 1.15-13.86) were major determinants of poor outcome (area under ROC curve of 81.44%). The grading system (tDSM-GS) streamlines classification into four different grades facilitating both diagnosis, clinical decision-making, and proper prognostication.

Cerebrofacial venous metameric syndrome-spectrum of imaging findings.

Cerebrofacial venous metameric syndrome (CVMS) is a complex craniofacial vascular malformation disorder in which patients have a constellation of venous vascular malformations affecting soft tissues, bone, dura, and neural structures including the eye and brain. It is hypothesized that a somatic mutation responsible for the venous abnormalities occurred prior to migration of the neural crest cells, and because of this, facial, osseous, and cerebral involvement typically follows a segmental or "metameric" distribution. The most commonly recognized form of CVMS is Sturge-Weber syndrome. However, a wide spectrum of CVMS phenotypical presentations exist with various metameric distributions of slow-flow vascular lesions including facial venous vascular malformations, developmental venous anomalies, venous angiomas, cavernous malformations (cavernomas), dural sinus malformations, and maybe even vascular tumors such as cavernous hemangiomas. Awareness of the various manifestations as described herewith is important for treatment and screening purposes.

Dural sinus malformation with giant pouch (DSMGP): symptoms and treatment.

The aim of this study is to describe the clinical manifestations and treatment options of patients having dural sinus malformation with giant pouch (DSMGP) in a tertiary pediatric center. Dural sinus malformation with giant pouch (DSMGP) is a rare vascular malformation affecting fetuses, newborns, and infants. It is characterized by a dilated dural sinus frequently thrombosed with arteriovenous fistula (AVF) in its wall. There is a few information about symptoms, best treatment, and prognosis of the disease. Medical charts of cases of DSMGP were retrospectively analyzed from January 2010 to January 2019. Our hospital is a pediatric tertiary center. An adult patient managed by the authors in another institution was added to the series. Eight pediatric patients from 0 to 9months were managed, four were males. The adult patient was a 40-year-old male. Symptoms were mass effect in 4 pediatric cases. Exophthalmos was present in the pediatric case and adult case. Both cases had venolymphatic malformation of the orbit. Congestive heart failure (CHF), epistaxis and facial vein engorgement, and intracranial hemorrhage (ICH) were the symptoms in other 3 cases. A child has spontaneous resolution of the disease. Transverse sinus and superior sagittal sinus are affected more commonly. Patients with totally thrombosed pouch had mass effect symptoms. These cases were managed by surgical excision. When AVFs are present, clinical manifestations were secondary to cerebral venous hypertension or cardiac overload. If cavernous sinus drained the shunt (capture), epistaxis and facial veins engorgement could be present. AVFs are amenable to embolization, achieving the control of venous hypertension in most cases. Cavernous malformation could be present and must be controlled because its enlargement could be a sign of uncontrolled venous hypertension. On the other hand, DSMGP can be accompanied by venolymphatic malformation conforming a cerebral venous metameric syndrome.

Torcular dural sinus malformations: a single-center case series and a review of literature.

Torcular dural sinus malformations (tDSMs) are rare vascular pathologies with various anatomoclinical pictures and prognosis. We analyzed our case series and corroborated the complexity of this rare unit by a review of literature. From 2003 to 2018, we treated four tDSMs patients. The evolution of three postnatally diagnosed cases of similar angioarchitecture contrasted with a fourth antenatally diagnosed case with significant torcular thrombosis. All patients were examined by computed tomography, magnetic resonance imaging, CT angiography, and MRI angiography. Three patients underwent digital subtraction angiography with embolization of feeders. Unusual pathological images were depicted. Early diagnosis along with embolization of feeders and lake could improve the outcome for tDSM patients with dural arteriovenous shunts. Ventriculoperitoneal shunt implantation before endovascular treatment led to significant worsening of both clinical presentation and MRI picture. For patients who persist with hydrocephalus despite the endovascular approach, we suggest endoscopic third ventriculostomy as a first-line treatment option. Antenatally diagnosed patients with thrombosed lakes constitute a prognostically better group of patients. Spontaneous thrombosis and remodelation of the lake can, however, still leave neurological sequelae, as observed in our patient.