Endoscopic third ventriculostomy in an infant with vein of Galen aneurysmal malformation treated by endovascular occlusion: Case report and a review of literature.

INTRODUCTION: Vein of Galen aneurysmal malformations (VGAMs) can, through multiple mechanisms, complicate with hydrocephalus (HCP). It is generally agreed that management strategies in this scenario should focus on endovascular embolizations. Treatment options for non-responders, however, have been only scarcely reported upon. CASE PRESENTATION: We present a nine-month-old boy with a mural type VGAM complicated by HCP. Despite endovascular occlusion of the sole feeder, the child exhibited hydrocephalus progression prompting an Endoscopic Third Ventriculostomy (ETV). This procedure restored a cerebrospinal fluid (CSF) circulation otherwise impaired by aqueduct obstruction. Later, a new feeder arose and a second embolization was ultimately needed in order to achieve VGAM regression. Throughout four years of follow up, the child attained all developmental marks. DISCUSSION/CONCLUSION: VGAMs are prone to hydrocephalus development as there is both an underlying venous congestion and a mechanical, obstructive component. Although there is a rationale for addressing both components, the underlying AV shunts and subsequent venous pressure elevations usually determine failure of traditional CSF shunting strategies. It is therefore challenging to manage HCP in patients who failed to improve following endovascular embolizations. For such cases, ETV stands as an elegant minimal invasive alternative with potential to provide a more physiologic drainage route and thus better allow for neurological development.

An Alternative Endovascular Technique for Vein of Galen Aneurysmal Malformation Treatment: Etylene Vinyl Alcohol Co-Polymer Embolization via Double-Lumen Balloon Microcatheter.

AIM: To present an alternative endovascular treatment option for the vein of Galen aneurysmal malformation by ethylene-vinyl alcohol copolymer embolization via a double-lumen balloon microcatheter. MATERIAL AND METHODS: A female patient was suspected with the vein of Galen aneurysmal malformation in the prenatal period and diagnosed choroidal type vein of Galen aneurysmal malformation. Once the patient was symptomatic with severe cardiac failure, an endovascular treatment decision was made. In the first step, a mixture of N-butyl cyanoacrylate-lipiodol was used for embolization. In the second session of the treatment, ethylene-vinyl alcohol copolymer was administered through a double-lumen balloon microcatheter. RESULTS: Complete cure of the aneurysmal malformation was obtained by no filling was observed in arterial feeders, collapsed appearance of the vein of Galen, and arterial-venous shunts at the end of the five-year follow-up period with magnetic resonance imaging and angiography. CONCLUSION: Ethylene-vinyl alcohol copolymer embolization via double-lumen balloon microcatheter provides an alternative and effective endovascular treatment option for the vein of Galen aneurysmal malformations using less contrast agent in less procedural time. Also, the possibility of spontaneous regression of residual aneurysmal malformations with small feeders should be considered.

High Output Cardiovascular Physiology and Outcomes in Fetal Diagnosis of Vein of Galen Malformation.

Vein of Galen aneurysmal malformation (VGAM) is a rare anomaly associated with poor outcomes from high output cardiac failure and neurologic complications. Studies addressing fetal cardiovascular status and outcomes in this population are limited. A single-center retrospective review was conducted on patients with a prenatal diagnosis of VGAM who underwent a fetal echocardiogram between January 2015 and July 2019. Fetal echocardiographic data, brain magnetic resonance imaging (MRI) findings and outcomes were collected. Nine fetuses [median gestational age at echocardiogram 34 (1.1) weeks] were included. All patients had superior vena cava dilation and reversal of diastolic flow in the transverse aortic arch. Median cardiothoracic (CT) ratio was 0.39 (0.09). Right ventricular (RV) and left ventricular (LV) dysfunction was present in 66% and 11% fetuses, respectively. Four out of five patients that underwent postnatal endovascular neurosurgical interventions at our center were alive at follow-up (mean 2.7 years). Of the non-survivors (n = 5), 3 received comfort care because of severe brain damage and died in the neonatal period. Non-survivors more commonly had > mild tricuspid regurgitation (TR) (40% vs. 25%) and > mild RV dilation (60% vs. 25%). Combined cardiac index (CCI) was higher in non-survivors when compared to survivors (672.7 vs. 530.2 ml/kg/min, p = 0.016). Fetuses with significant parenchymal damage on brain MRI tended to have a higher CCI than those without (979.8 vs. 605.0 ml/kg/min, p = 0.047). RV dysfunction, TR and elevated CCI are more commonly seen in non-survivors with VGAM. A higher CCI is seen in those deemed untreatable due to significant parenchymal volume loss. Future multicenter studies are needed to assess for prenatal prediction of outcomes in this high-risk population.

Epidemiology, Diagnostics, and Management of Vein of Galen Malformation.

BACKGROUND: Vein 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. METHODS: This 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. RESULTS: In 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. CONCLUSIONS: The 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.

Heart failure caused by VGAM: a lesson for diagnosis and treatment from a case and literature review.

We describe the case of a neonate with signs of heart failure. Echocardiography showed a structural normal heart shape with left ventricular dysfunction. At 2 months of age, a vein of Galen arteriovenous malformation was diagnosed through a brain magnetic resonance imaging. Embolization therapy was accomplished and a clinical and neurological follow-up was started. This clinical case highlights how important it is considering an intracranial cause in the differential diagnosis of neonatal congestive heart failure (CHF). We performed a narrative minireview of the literature about treatments and outcome of this malformation in association to CHF, to point out how complex the diagnosis of vein of Galen aneurysmal malformation (VGAM) may be and how an early diagnosis is important for its management.

Repair of Sinus Venosus Defect and Anomalous Pulmonary Veins Associated With Vein of Galen Malformation.

Sinus venosus defect (SVD) is a deficiency in the sinus venosus portion of the atrium, often associated with partial anomalous pulmonary venous connections. In patients with vein of Galen malformation (VGAM), SVD provides a unique challenge with respect to embolization treatment. In our case, the child had percutaneous device closure of the SVD prior to VGAM embolization. Nine years later, he required surgical removal of the SVD device and Warden procedure due to progressive right-sided cardiac enlargement.

Ethical Considerations in Multiple Pregnancy: Preterm Delivery in the Setting of Discordant Fetal Anomaly.

Planning for the preterm birth of a fetus with known anomalies can raise complex ethical issues. This is particularly true of multiple pregnancies, where the interests of each fetus and of the expectant parent(s) can conflict. In these complex situations, parental wishes and values can also conflict with the recommendations of treating clinicians. In this article, we consider the case of a dichorionic twin pregnancy complicated by the diagnosis of vein of Galen aneurysmal malformation (VGAM) in one of the twins at 28 weeks' gestation. Subsequent deterioration of the affected twin prompted the parents to request preterm delivery to prevent the imminent in-utero demise of the affected twin. However, given the associated risks of prematurity, complying with the parents' request may have disadvantaged the health and wellbeing of the unaffected twin. This article canvases the complex ethical issues raised when parents request preterm delivery of a multiple pregnancy complicated by a fetal anomaly in one twin, and the various ethical tools and frameworks that clinicians can draw on to guide their decision-making in such cases.

Pseudofeeders on fetal magnetic resonance imaging predict outcome in vein of Galen malformations.

OBJECTIVE: Although vein of Galen aneurysmal malformations (VGAM) can be diagnosed in the fetus, the challenge is predicting the occurrence of its 2 major complications: cardiopulmonary failure and encephalomalacia. This study attempts to determine which fetal brain magnetic resonance imaging (MRI) features might be used to predict the development of these complications at birth. METHODS: The cohort was extracted from a prospectively assembled database of VGAM cases managed at a single referral center from 2000 to 2014. Of 251 patients with VGAM, 83 cases were diagnosed prenatally. A total of 58 patient charts having at least 1 fetal MRI were reviewed. Patterns of brain parenchyma, hydrocephalus, and so-called middle cerebral artery (MCA) "pseudofeeders" were correlated with cardiac failure, pulmonary hypertension, and encephalomalacia at birth. RESULTS: The median gestational age at fetal MRI was 32.3 weeks of pregnancy (±2.3). Nine fetuses (16%) had encephalomalacia. Thirty-one fetuses (53%) had MCA pseudofeeders. Twenty-six fetuses (45%) had prenatal hydrocephalus. Prenatal MCA pseudofeeders were a risk factor for encephalomalacia at birth (p = 0.001). MCA pseudofeeders and hydrocephalus were risk factors for both severe cardiac failure (p = 0.01 and p = 0.04, respectively) and severe pulmonary hypertension (p = 0.014 and p = 0.05, respectively) at birth. INTERPRETATION: MCA pseudofeeders are the result of impaired cerebral blood flow, and are thus a risk factor for further brain melting at birth. Their presence can be used for informing parents and as an aid in management decisions. Ann Neurol 2017;81:278-286.

Endovascular treatment of pediatric intracranial arteriovenous shunt.

Intracranial arteriovenous shunts (ICAVS) in young children are characterized by frequent high-flow fistulas. In association with high-flow fistulas and the physiological condition of the developing brain and heart, each ICAVS type tends to present at a certain age with unique symptoms. Vein of Galen aneurysmal malformation (VGAM) and dural sinus malformation with arteriovenous (AV) shunt tend to present in the neonate with high output cardiac failure. In infancy, VGAM, pial arteriovenous fistula (AVF) and infantile dural AVF (DAVF) tend to present with hydrodynamic disorder such as macrocephaly, ventriculomegaly, prominent facial veins, and developmental delay. Pial AVF, AV malformation, and infantile DAVF can present with focal neurological signs such as seizure or hemorrhage at older ages. Endovascular treatment is currently the first choice of treatment for most pediatric ICAVS. The treatment goal should be defined on a patient-by-patient basis, according to the unique physiological condition of the child.

Bilateral carotid and vertebral rete mirabile with vein of Galen aneurysmal malformation: an unreported association.

Rete mirabile is a fine meshwork of anastomosing vessels that replace the parent artery. A 30-year-old woman complained of slurring of speech, right eye proptosis, recurrent vomiting, and loss of bladder and bowel control, followed by drowsiness lasting 30-40 min, for the past 6 months. On cross sectional imaging and angiography, the patient was found to have a vein of Galen aneurysmal malformation, with bilateral carotid and vertebral rete mirabile. The patient was offered both endovascular and open surgical options but she refused any form of surgical treatment and opted for conservative management. At the 6 month follow-up, she continued to have occasional episodes of headache and vomiting but was otherwise normal. We describe the clinical, cross sectional, and angiographic features of this patient. A comparison with other patients with bilateral carotid and vertebral rete mirabile is also reported.

Vein of Galen Arteriovenous Malformation in a Neonate.

The vein of Galen is the most common type of arteriovenous malformation in the fetus and neonate. Most vein of Galen arteriovenous malformations (VGAMs) are diagnosed in the neonatal period, with the remainder being identified in early childhood, typically via computed tomography scan. The VGAM is found in five different patterns where the vein of Galen and straight sinus extending to the torcula Herophili are dilated. This dilation can lead to significant compression of the posterior fossa structures. Clinically, the infant with this malformation can present with seizures or most commonly, high output cardiac failure. It is important, however, to keep a broad differential diagnosis as more prevalent neonatal conditions arise similarly. These conditions can include developmental delay, cerebral palsy, epilepsy, superior vena cava syndrome, hemangioendothelioma, and other arteriovenous fistulae. Treatment begins with early diagnosis and testing of initial sequelae. This is often accomplished in consultation with different pediatric subspecialists, particularly neurologists and cardiologists. The mainstay of therapy is with neurosurgical intervention. Although the mortality of a fetus or neonate with VGAM is very high, prognosis is dependent on the size of the malformation, age at diagnosis, and successful neurosurgical outcome.

Pediatric central nervous system vascular malformations.

Pediatric central nervous system (CNS) vascular anomalies include lesions found only in the pediatric population and also the full gamut of vascular lesions found in adults. Pediatric-specific lesions discussed here include infantile hemangioma, vein of Galen malformation and dural sinus malformation. Some CNS vascular lesions that occur in adults, such as arteriovenous malformation, have somewhat distinct manifestations in children, and those are also discussed. Additionally, children with CNS vascular malformations often have associated broader vascular conditions, e.g., PHACES (posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies, eye anomalies and sternal anomalies), hereditary hemorrhagic telangiectasia, and capillary malformation-arteriovenous malformation syndrome (related to the RASA1 mutation). The treatment of pediatric CNS vascular malformations has greatly benefited from advances in endovascular therapy, including technical advances in adult interventional neuroradiology. Dramatic advances in therapy are expected to stem from increased understanding of the genetics and vascular biology that underlie pediatric CNS vascular malformations.

Fetal MRI demonstrating vein of Galen malformations in two successive pregnancies--a previously unreported occurrence.

PURPOSE: Vein of Galen malformations are rare and are usually detected in utero using ultrasonography. No definite genetic predisposition has been described in the literature. We present a case with two successive pregnancies complicated by vein of Galen malformations, which were assessed using fetal MRI. The putative role of genetic mutations is also discussed. METHODS: A 30-year-old primigravida presented in the third trimester with a fetus diagnosed with vein of Galen malformation on sonography. MRI and MR angiography were performed for further assessment. The subsequent pregnancy was again complicated by vein of Galen malformation. In addition to MRI, genetic analysis was carried out on both fetuses and on the parents. RESULTS: MR angiography revealed that both fetuses suffered from the choroidal sub-type of vein of Galen malformation, with multiple arterial feeders fistulating onto a midline venous pouch. The visualised anatomy obtained was far superior than on sonography and allowed categorisation of vein of Galen malformation sub-type. Genetic analysis on the mother and both fetuses showed variant RASA1 gene mutation. CONCLUSIONS: This case demonstrates that fetal MRI is a powerful tool in the investigation of in utero neurovascular malformations. A genetic mutation was identified, but this was of uncertain significance.

Vein of galen aneurysmal malformation: prognostic markers depicted on fetal MRI.

Fetal magnetic resonance imaging (MRI) serves a dual role in the prenatal diagnostic work up of a vein of Galen aneurysmal malformation (VGAM). First, it may confirm the prenatal ultrasound findings and secondly it may identify prognostically important secondary complications of the VGAM. Progressive heart failure with development of fetal hydrops and hemispheric white matter injuries are associated with a poor outcome in children with a VGAM. We present the prenatal findings using both ultrasound and MRI of a fetus with VGAM including bilateral injury of the cerebral hemispheres, severe dilatation of the jugular veins, cardiomegaly, and hydrops fetalis. The neonate died within 30 minutes after delivery. Moreover, fetal MRI revealed complete placenta praevia, uterine fibroids, and wrapping of the umbilical cord around the fetal neck. This additional information is unrelated to the fetal pathology, but could have been of importance to plan the delivery.