Galen Malformation Research Articles

Initial experience with the Scepter Mini catheter for the embolization of vascular malformations in the pediatric population.

Achieving distal access and flow control are of significant importance for the treatment of intracerebral arteriovenous shunting lesions. The Scepter Mini catheter is a low-profile, dual-lumen balloon catheter, designed to provide navigability in small-caliber, tortuous intracranial vessels. To describe the initial experience of the Scepter Mini catheter in the treatment of pediatric arteriovenous malformations and fistulas. A single-institution, retrospective chart review identified all consecutive uses of the Scepter Mini catheter for endovascular embolization of vascular malformations in the pediatric population. Three different arterial pedicles were embolized with the Scepter Mini catheter in two different patients. One patient was diagnosed with a vein of Galen malformation that had undergone multiple treatments and the other with a torcular dural arteriovenous fistula. All cases encompassed quite challenging tortuosity of small-caliber feeders which prevented the use of another microcatheter. The Scepter Mini catheter navigated into feeding arteries of diameters 0.65, 1.9, and 1.25 mm, and its balloon was inflated to achieve excellent blood flow control. Total obliteration (100%) of the shunting lesion was achieved in both cases. No reflux, pedicle rupture or other untoward effects were observed. Both patients had an uneventful recovery. The Scepter Mini catheter afforded fast and safe distal access, flow control, and treatment of arteriovenous malformations in this initial pediatric cohort. The catheter's low profile and easy navigability should support its use in tortuous and small arterial feeders, especially in the pediatric population.

Review on the current treatment status of vein of Galen malformations and future directions in research and treatment

ABSTRACT Introduction Vein of Galen malformations (VOGMs) represent a rare pathologic entity with often catastrophic natural history. The advances in endovascular treatment in recent years have allowed for a paradigm shift in the treatment and outcome of these high-flow shunts, even though their pathogenetic mechanisms and evolution remain in part obscure. Areas covered The overall management of VOGMs requires a tailored case-to-case approach, starting with in utero detection and reserving endovascular treatment for indicated cases. Lately, the advances in translational research with whole-genome sequencing and the coupling with cellular-level hemodynamics attempt to shed more light in the pathogenesis and evolution of these lesions. At the same time the advances in endovascular techniques allow for more safety and tailored technical strategy planning. Furthermore, the advances in MRI techniques allow a better understanding of their vascular anatomy. In view of these recent advances and by performing a PUBMED literature review of the last 15 years, we attempt a review of the evolutions in the imaging, management, endovascular treatment and understanding of underlying mechanisms for VOGMs. Expert opinion The progress in the fields detailed in this review appears very promising in better understanding VOGMs and expanding the available therapeutic arsenal.

VP26.12: Prenatal diagnosed Vein of Galen malformation: natural history and outcome

VP26.12: Prenatal diagnosed Vein of Galen malformation: natural history and outcome

Postpartum septic pelvic thrombophlebitis and ovarian vein thrombosis after caesarean section: a rare case report

BackgroundSeptic pelvic thrombophlebitis (SPT) is a well-recognized but rare puerperal complication that has two types: ovarian vein thrombophlebitis (OVT) and deep septic pelvic thrombophlebitis (DSPT). The present case report describes the clinical and imaging findings of a female patient diagnosed with right ovarian vein infectious thrombophlebitis after caesarean section (C-section).Case presentationA 35-year-old G3P2 female who presented with a foetal vein Galen malformation at 41 weeks of gestation underwent C-section. The patient had high fever after C-section, and anti-inflammatory treatment was not effective within 1 week. An abdominal wall incision haematoma was found, and a second surgery for the removal of the abdominal wall haematoma was performed. The patient was ultimately diagnosed with abdominal incision haematoma and right ovarian vein infectious thrombophlebitis after C-section. We used imipenem and tigecycline to strengthen the anti-inflammatory effects, simultaneously administrating low-molecular-weight heparin and warfarin as anticoagulant therapy. On the 30th day after C-section, the right ovarian vein thrombus disappeared.ConclusionThis case illustrates the need to consider the potential relationship between abdominal incision haematoma and ovarian vein thrombophlebitis. Despite advances in the management of venous thromboembolism globally, more data on epidemiology in terms of first incidence, prevalence, recurrence and risk factors, management of bleeding complications, and increased awareness in Asian populations are necessary.

PERSISTENT EMBRYONIC FALCINE SINUS PRESENTING AS ATRETIC PARIETAL CEPHALOCELE: CASE REPORT

Cephaloceles are congenital neural tube defect causing herniations of intracranial structures (dura, brous tissue and dysplastic brain tissue) through a skull defect. Frequently associated with other intracranial anomalies like grey matter heterotopia, Vein of Galen malformations, Ventriculomegaly, Walker–Warburg syndrome, lobar holoprosencephaly, Dandy–Walker syndrome, hypogenesis of the corpus callosum, interhemispheric cysts, microphthalmia, and retro-ocular cysts.We are presenting a rare case of persistent embryonic sinus presenting with parietal cephalocele.

Coil assisted glue embolization to improve safety and accuracy in endovascular management of Vein of Galen patients

BackgroundVein of Galen malformation (VOGM) patients present in neonatal age with cardiac failure or significant neurologic consequences. The most established method of treatment has been transarterial embolization with high concentration glue (N-Butyl Cyano Acrylate) which may be difficult to control due to very high flow rates and may migrate to the venous side with undesirable consequences. We describe our experience in four patients in whom initial coil placement in prominent feeding arteries helped inflow reduction thereby facilitating controlled glue injection with a good result and no incidence of non-target embolization. Materials and methodsFour neonates who had presented during the last three years with cardiac failure were included in the study. Prominent feeders identified on imaging or DSA were treated with transarterial helical coil placement in the terminal segment just before the VOGM sac followed by controlled glue injection. The outcome was assessed by detailed clinical and imaging follow-up. ResultsA total of 10 most prominent feeders were embolized in four patients. Complete embolization of the VOGM was achieved in two patients in a single session. One patient with residual small feeders showed subsequent thrombosis of these feeders, possibly secondary to flow reduction in the sac. One patient still shows thin residual feeders but good clinical improvement and is being planned for follow-up and a second session at one year of age.No complications were observed. All patients showed immediate improvement in cardiac failure and good neurological development on follow-up. On imaging, the VOGM sac regressed completely (3 patients) or significantly in size (1 patient). ConclusionPlanned coil placement in the terminal part of prominent feeding arteries reduced the flow and provided lattice on which glue deposits in a controlled manner without any incidence of non-target embolization in our study. This relatively less described technique increases the safety and accuracy of the endovascular treatment in VOGM patients.

A cardiopulmonary bypass strategy to support a patient with vein of Galen malformation.

We present a dissection of the patent ductus arteriosus and pulmonary artery for surgical repair utilising cardiopulmonary bypass in the setting of vein of Galen malformation. Several strategies were employed to attenuate the cerebral shunt including pH-stat, high cardiac index, restrictive venous drainage, continuous ventilation and deep hypothermic circulatory arrest. The patient recovered from surgery with no apparent neurological sequelae.

Curative embolization of a vein of Galen malformation with a dual-lumen balloon and ethylene vinyl alcohol copolymer

The endovascular approach is the standard treatment of vein of Galen malformations (VOGMs,) however the morbidity and mortality rates of VOGMs treated by embolization are still significant. Embolization with ethylene vinyl alcohol copolymer (EVOH) by a dual-lumen balloon (DLB) is a promising. In the present case we demonstrated two strategies of transarterial (TA) embolization of a mural type VOGM presenting with two direct shunts. The first shunt was embolized using coils to reduce the flow through the shunt, following by an EVOH injection which resulted in the complete occlusion of that shunt. The second shunt was embolized also with EVOH but through a DLB. In the second embolization a very precise cast of EVOH could be created resulting in a complete occlusion of the VOGM. This case demonstrated the advantages of DLB compared to other embolization techniques

Epidemiology, Diagnostics, and Management of Vein of Galen Malformation

BackgroundVein of Galen malformation (VGM) is a rare congenital intracerebral vascular malformation. The aim of this study was to gain reliable data about epidemiology; clinical manifestations; and pre-, peri- and postinterventional treatment strategies in Germany. MethodsThis prospective epidemiologic study was conducted by Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland, a hospital-based German nationwide surveillance unit for rare pediatric diseases. Patients aged upto 18 years with a new diagnosis of VGM were prospectively included between January 1, 2014 and December 31, 2015. ResultsIn the two-year study period, 30 individuals with newly diagnosed VGM were identified, resulting in an estimated annual incidence rate of VGM in Germany of at least 1: 58,100 live births. The main symptoms were age dependent. Neonates presented with mainly cardiac manifestations of high output failure; infants and older children mainly suffered from neurological complications. Of the patients with endovascular treatment 95% survived, but only 41% of these patients were discharged home without any complications. The Bicêtre Neonatal Evaluation Score was a good predictor for poor outcome but could have led to palliative care in some patients with good outcome. ConclusionsThe incidence of VGM in Germany is estimated to be 1:58,100 live births. The majority of patients were eligible for endovascular treatment. Nevertheless, due to side effects and long-term sequelae in the majority of patients, further improvement in care of children with VGM is needed.

Scepter mini assisted angiographic cure of a Vein of Galen Malformation with n-butyl cyanoacrylate.

Even in the modern endovascular era, the treatment of Vein of Galen Malformations (VOGM) is extremely challenging. While their natural history is very poor, endovascular embolization has emerged as the standard of care. These lesions often require multiple treatment sessions to decrease shunting, with each treatment including multiple pedicles. Here we present the first reported use of the Scepter Mini (Microvention, Aliso Viejo, CA) in the treatment of vein of Galen malformations. A 7 month old female presented with an enlarging VOGM that was initially identified on prenatal ultrasound. Given the enlarging size of the lesion and failure to meet developmental milestones, the patient underwent planned endovascular embolization of the VOGM. The novel Scepter Mini balloon catheter was used for treatment of this lesion affording easy access to the target pedicle and immediate flow arrest which allowed for immediate cure of the lesion. The novel Scepter Mini Balloon (Microvention, Aliso Viejo, CA) afforded excellent distal access with subsequent immediate flow arrest therefore facilitating endovascular cure. Initially, a staged approach was favored for the treatment of the lesion, but the flow arrest achieved by the Scepter mini facilitated immediate occlusion from a single pedicle.

Vein of galen malformation presenting as severe persistent pulmonary hypertension in neonate

Vein of Galen malformation (VOGM) is a rare type of arteriovenous malformation with majority presenting in neonatal period. The most common presentation is high output cardiac failure and association with persistent pulmonary hypertension (PPHN) is rarely reported. If left untreated mortality rate is very high. Endovascular embolization is the preferred treatment modality at present. We describe a full-term male baby presented at 1 h of life with respiratory distress, eventually diagnosed to have PPHN on echocardiography. Ultrasonography cranium done in view of cranial bruit revealed VOGM which later confirmed with magnetic resonance (MR) imaging brain and MR angio and venography. All supportive measures were provided. But because of hemodynamic instability endovascular embolization could not be attempted and baby succumbed due to severe refractory PPHN. We should consider the possibility of VOGM in all refractory cases of PPHN even though the association is very rare.

Chapter 11 - Cerebral arteriovenous fistulae

Dural arteriovenous fistulae (dAVFs) are diverse, complex lesions that share the common feature of arteriovenous shunting without an intervening nidus. In this chapter, the ensuing discussion is organized by dAVF location, followed by further consideration of less common, distinct types of dAVFs-carotid cavernous fistulae, pial arteriovenous fistulae, and vein of Galen malformations. For each lesion type, epidemiology, clinical presentation, imaging findings, classification considerations, and treatment options are discussed.

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.

Артеріовенозна мальформація вени Галена: пренатальна діагностика і постнатальні наслідки (аналіз даних літератури та власних спостережень)

Purpose — to assess ultrasound criteria and diagnostic value at vein of Galen malformation (VGAM) throughout perinatal period with possible further mortality rate and psychomotor development prognosis. Materials and methods. This was retrospective study involving 9 cases of VGAM diagnosed prenatally and managed at two institutions over a 5-year period (2014–2019). All cases had undergone detailed prenatal and perinatal cerebral, cardiac and fetoplacental unit assessment by grayscale ultrasound, color and pulsed–wave Doppler. In order to determine further treatment tactics neurosurgical consultation was involved into all confirmed VGAM cases. Results. Pregnancy and fetoneonatal outcome were known in all cases. Minor size supratentorial arachnoid cysts were detected in 6 VGAM cases. Vascular origin of formations was confirmed with Doppler scan. However, no signs of parenchymal abnormalities, liquor system of the brain damage and heart failure have been identified. All newborns were discharged with further outpatient follow-up. Vascular malformation with cardiomegaly correlation, tricuspid regurgitation, dilation of the right atrium and upper cava vein, severe brain abnormalities were considered by definition to be associated with poor outcome in 3 cases. Poor outcome was defined as death. Conclusions. VGAM diagnosis in newborns is highly determined by timely prenatal diagnosis and must involve postnatal neurosurgical assessment. Clarification of the diagnosis contributes to establishing the prognosis and inpatient care tactics. Color and pulsed+wave Doppler assessment is necessary for differential diagnosis with other midline cystic abnormalities of the brain. It is recommended to consider delivery within the perinatal clinic. Care must be provided by highly qualified perinatal team of obstetricians, neurosurgeons and neonatologists with an extensive experience in managing high risk pregnancies. Fetoneonatal outcome is poor due to congestive heart failure, severe brain damage and neurological impairment with tendency to worsen if diagnosed prenatally. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of these Institutes. The informed consent of the patient was obtained for conducting the studies. No conflict of interest was declared by the authors. Key words: vein of Galen aneurysmal malformation, fetus, newborn, diagnostic value, ultrasound, perinatal care, fetoneonatal outcome.

Vein of Galen Malformation.

* Abbreviations: CPAP: : continuous positive airway pressure Fio2: : fraction of inspired oxygen MFCC: : Maternal Fetal Care Clinic MRA: : magnetic resonance angiography MRI: : magnetic resonance imaging MRV: : magnetic resonance venography PGE1: : prostaglandin E1 VOGM: : vein of Galen malformation A 37-year-old gravida 3, para 1 pregnant woman was referred to the Maternal Fetal Care Center (MFCC) at Boston Children’s Hospital at 36 weeks’ gestation for the finding of vein of Galen malformation (VOGM). The patient’s pregnancy was complicated by gestational diabetes. Her surgical history was notable for adenoidectomy, a previous cesarean section, and dilation and curettage following a spontaneous abortion. Maternal medications included prenatal vitamins and glyburide. Family history was noncontributory. This pregnancy was planned and naturally conceived. The woman received appropriate prenatal care. Noninvasive prenatal screening showed her to be at low risk and cell-free fetal DNA screening was negative. She had a normal anatomy scan at 20 weeks’ gestation. Fetal ultrasonography performed at 36 weeks' gestation for evaluation of fetal growth demonstrated a prominent rounded vascular structure in the quadrigeminal cistern with turbulent flow consistent with a VOGM. Fetal echocardiography at that time revealed dilation of the right atrium and right ventricle with normal biventricular function. There was no evidence of hydrops. Imaging at 37 weeks’ gestation in the Boston Children’s Hospital MFCC included repeat comprehensive fetal echocardiography, fetal ultrasonography, and fetal brain magnetic resonance imaging (MRI). Echocardiography revealed a markedly enlarged right atrium and right ventricle with mild right ventricular dysfunction. Moderate tricuspid regurgitation was noted, the innominate vein was markedly dilated, and the superior vena cava had increased flow. The interventricular septum was dyskinetic, suggesting increased pressure within the right ventricle. There was a patent foramen ovale and a patent ductus arteriosus with right-to-left shunting throughout the cardiac cycle. No evidence of pericardial effusion or hydrops fetalis was seen. Fetal ultrasonography showed a singleton male fetus with biometry measurements, including head circumference, corresponding to estimated gestational age. Amniotic fluid volume was normal. The fetal survey demonstrated a large midline intracranial vascular structure in the expected …

Cerebral Arteriovenous Malformations in Pediatric Patients with Hereditary Hemorrhagic Telangiectasia: Re-evaluating Appearance, Bleeding Risk, and Treatment Necessity in a Selective Meta-analysis

AbstractPediatric patients suffering from cerebral nidal arteriovenous malformations are a unique population due to the rare occurrence of the disease. Diagnosis of hereditary hemorrhagic telangiectasia (HHT) in children is a rare event and mainly restricted to coincidental detection from screening of possibly afflicted family members. In patients with HHT, it is well known that the incidence of cerebral vascular malformations (CVMs) is higher than expected when compared with the nonafflicted population. Even though CVMs comprise a variety of different distinct anatomical and radiographic entities (e.g., capillary telangiectasia, nidal arteriovenous malformation [AVM], cavernous malformation, dural or pial as well as mixed fistula, and vein of Galen malformation), they are mostly summarized and analyzed all in one category due to the low number of individual cases identified in single centers. Nevertheless, the best treatment algorithm will likely vary significantly between different CVMs as does the clinical presentation and the natural course of the CVM. It is therefore the objective of this article to focus on nidal AVMs in pediatric patients suffering from HHT. To this end, we performed a systematic selective literature research to estimate incidence, clinical and radiological appearance, as well as classification according to established grading system, and to evaluate the necessity of treatment of these lesions in light of their respective outcomes. Our line of arguments explains why we recommend to follow these lesions expectantly and suggest to keep pediatric patients under surveillance with sequential scans until they reach adulthood.

Abnormalities of the Fetal Central Nervous System: Prenatal US Diagnosis with Postnatal Correlation.

Fetal central nervous system (CNS) abnormalities are second only to cardiac malformations in their frequency of occurrence. Early and accurate diagnosis at prenatal US is therefore essential, allowing improved prenatal counseling and facilitating appropriate referral. Thorough knowledge of normal intracranial anatomy and adoption of a logical sonographic approach can improve depiction of abnormal findings, leading to a more accurate differential diagnosis earlier in pregnancy. Four standard recommended views-transventricular, falx, cavum, and posterior fossa or transcerebellar views-provide an overview of fetal intracranial anatomy during the second trimester anatomy scan. Essential elements surveyed in the head and neck include the lateral cerebral ventricles, choroid plexus, midline falx, cavum septi pellucidi, cerebellum, cisterna magna, upper lip, and nuchal fold. CNS abnormalities can be organized into six main categories at prenatal US. Developmental anomalies include neural tube defects and neuronal migration disorders. Posterior fossa disorders include Dandy-Walker malformation variants and Chiari II malformation. Ventricular anomalies include aqueductal stenosis. Midline disorders include those on the spectrum of holoprosencephaly, agenesis of the corpus callosum, and septo-optic dysplasia. Vascular anomalies include vein of Galen malformations. Miscellaneous disorders include hydranencephaly, porencephaly, tumors, and intracranial hemorrhage. Correlation with postnatal MRI is helpful for confirmation and clarification of suspected diagnoses after birth. The authors discuss a standard US imaging approach to the fetal CNS and review cases in all categories of CNS malformations, providing postnatal MRI correlation when available.©RSNA, 2020.

De novo arteriovenous shunts after endovascular cure of cerebrospinal macro arteriovenous fistulas. A role for the vasa vasorum?

Background and purposeMacro-arteriovenous fistulas (MAVFs) are arteriovenous shunts draining into a giant venous ectasia. They can be treated by surgery or embolisation. Angiographic controls are usually performed rapidly after treatment in order to prove the cure of the lesion but no long term angiographies are generally scheduled. We wanted to control the stabilities of such lesions at follow-up. MethodClinical history and imaging of ninety-five patients with high flow shunts draining into venous ectasias (MAVFs, Vein of Galen malformations and dilatations) were reviewed. ResultsDe novo arteriovenous shunts related to angiogenesis involving vasa vasorum developed in three patients with MAVFs at various intervals. Genetic underlying conditions as HHT or RASA 1 mutations were suspected in each patient. ConclusionsNeo-angiogenesis can occur after cure of MAVFs. Long term imaging follow-ups should be considered as the natural history of such recurrent shunts is currently unknown.

Deep venous communication in vein of Galen malformations: incidence, Imaging, and Implications for treatment

BackgroundFailure to appreciate deep venous drainage pathways is a major cause of severe complications in the endovascular treatment of vein of Galen aneurysmal malformations (VOGMs).ObjectiveTo report deep venous drainage patterns...

Fetal and Neonatal MRI Predictors of Aggressive Early Clinical Course in Vein of Galen Malformation.

Neonates with vein of Galen malformations are split into 2 cohorts: one needing urgent neonatal embolization, with relatively high mortality and morbidity even with expert care, and a cohort in which embolization can be deferred until infancy, with far better prognosis. We aimed to identify brain MR imaging characteristics obtained from fetal and early neonatal scans that can predict the clinical presentation. Patients with vein of Galen malformations were stratified into a neonatal at-risk cohort if the patient needed urgent neonatal intervention or if neonatal death occurred; or an infantile treatment cohort if they were stable enough not to require treatment until >1 month of age. Twelve vascular MR imaging parameters, measured by 2 independent observers, were systematically correlated with the need for early neonatal intervention and/or neonatal mortality. A total of 32 neonatal patients (21 patients in the neonatal at-risk cohort, 11 in the infantile treatment cohort) were identified. Maximal mediolateral diameter (area under the curve = 0.866, P < .001) and cross-sectional area (area under the curve = 0.836, P = .002) at the narrowest point of the straight or falcine sinus were most predictive of clinical evolution into the neonatal at-risk cohort. There were 15 patients who had fetal MRIs (10 in the neonatal at-risk cohort and 5 in the infantile treatment cohort). Here too, maximal mediolateral diameter (area under the curve = 0.980, P = .003) and cross-sectional area (area under the curve = 0.941, P = .007) at the narrowest point of the straight or falcine sinus were highly predictive of the neonatal at-risk cohort. Early neonatal and fetal MR imaging can be readily used for accurate early risk stratification, assisting in directing resources, timing treatment decisions, and identifying appropriate cohorts for novel interventions.