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Vein of galen malformation

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https://www.readbyqxmd.com/read/29444212/loss-of-function-mutations-in-ephb4-are-responsible-for-vein-of-galen-aneurysmal-malformation
#1
Alexandre Vivanti, Augustin Ozanne, Cynthia Grondin, Guillaume Saliou, Loic Quevarec, Helène Maurey, Patrick Aubourg, Alexandra Benachi, Marta Gut, Ivo Gut, Jelena Martinovic, Marie Victoire Sénat, Marcel Tawk, Judith Melki
Vein of Galen aneurysmal malformation is a congenital anomaly of the cerebral vasculature representing 30% of all paediatric vascular malformations. We conducted whole exome sequencing in 19 unrelated patients presenting this malformation and subsequently screened candidate genes in a cohort of 32 additional patients using either targeted exome or Sanger sequencing. In a cohort of 51 patients, we found five affected individuals with heterozygous mutations in EPHB4 including de novo frameshift (p.His191Alafs*32) or inherited deleterious splice or missense mutations predicted to be pathogenic by in silico tools...
February 9, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29442365/vein-of-galen-malformation-optimizing-the-management-of-postneonatal-presentations
#2
Dan Meila
No abstract text is available yet for this article.
February 14, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29436506/non-enhanced-mr-imaging-for-preinterventional-assessment-of-the-angioarchitecture-in-vein-of-galen-malformations
#3
Nikola Reinhard Dürr, Waleed Brinjikji, Anne Pohrt, Henrich Lanfermann, Friedhelm Brassel, Dan Meila
BACKGROUND AND PURPOSE: Endovascular treatment of vein of Galen malformations (VGMs) requires sufficient preceding MR imaging. Standardized, preinterventional, non-invasive imaging has not been established. Our study is the first to examine the role of a dedicated, standardized, non-invasive imaging protocol in the evaluation of VGM angioarchitecture by non-contrast MRI/MR angiography. MATERIALS AND METHODS: We retrospectively evaluated a consecutive series of VGM patients who underwent a 1...
February 7, 2018: Journal of Neurointerventional Surgery
https://www.readbyqxmd.com/read/29408495/multimodality-management-of-vein-of-galen-malformations-an-institutional-experience
#4
Arthur Hosmann, Ahmed El-Garci, Brigitte Gatterbauer, Gerhard Bavinzski, Engelbert Knosp, Andreas Gruber
BACKGROUND: The Vein of Galen Aneurysmal Malformation (VGM) is a rare intracranial arterio-venous fistula with a dramatic manifestation during infancy and a 100% mortality without treatment. Therapeutic strategies for VGMs have changed over time due to advances in endovascular techniques. We present our experience and multimodality approach within the last 4 decades. METHODS: Retrospective analysis and angiographic review of VGM patients between 1975 and 2016 at our institution...
February 2, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29372854/adenosine-induced-cardiac-standstill-for-endovascular-treatment-of-pediatric-vein-of-galen-malformations
#5
Nam K Yoon, Jonathan P Scoville, Philipp Taussky
Vein of Galen malformations are congenital high-flow vascular malformations that often present with heart failure, hydrocephalus, developmental delay, and intracranial hemorrhage. Because open surgical treatment is associated with high morbidity and mortality, endovascular embolization is increasingly becoming the preferred method of intervention. However, embolization of these lesions can be difficult because of their high-flow nature. The use of adenosine-induced cardiac standstill for treatment of vein of Galen malformations has not been previously described in neonates...
January 26, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29359331/presentation-course-and-outcome-of-postneonatal-presentations-of-vein-of-galen-malformation-a-large-single-institution-case-series
#6
Vignesh Gopalan, Adam Rennie, Fergus Robertson, Lakshmi Kanagarajah, Claire Toolis, Sanjay Bhate, Vijeya Ganesan
AIM: To describe presentation, clinical course, and outcome in postneonatal presentations of vein of Galen malformation (VGM). METHOD: Children older than 28 days presenting with VGM (from 2006-2016) were included. Notes/scans were reviewed. Outcome was dichotomized into 'good' or 'poor' using the Recovery and Recurrence Questionnaire. Logistic regression was performed to explore relationships between clinico-radiological features and outcome. RESULTS: Thirty-one children (18 males, 13 females) were included, presenting at a median age of 9...
January 23, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29350590/human-genetics-and-molecular-mechanisms-of-vein-of-galen-malformation
#7
Daniel Duran, Philipp Karschnia, Jonathan R Gaillard, Jason K Karimy, Mark W Youngblood, Michael L DiLuna, Charles C Matouk, Beverly Aagaard-Kienitz, Edward R Smith, Darren B Orbach, Georges Rodesch, Alejandro Berenstein, Murat Gunel, Kristopher T Kahle
Vein of Galen malformations (VOGMs) are rare developmental cerebrovascular lesions characterized by fistulas between the choroidal circulation and the median prosencephalic vein. Although the treatment of VOGMs has greatly benefited from advances in endovascular therapy, including technical innovation in interventional neuroradiology, many patients are recalcitrant to procedural intervention or lack accessibility to specialized care centers, highlighting the need for improved screening, diagnostics, and therapeutics...
January 19, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29125026/delayed-and-incomplete-treatment-may-result-in-dural-fistula-development-in-children-with-vein-of-galen-malformation
#8
Dan Meila, Cynthia Schmidt, Katharina Melber, Dominik Grieb, Cornelius Jacobs, Collin Jacobs, Heinrich Lanfermann, Friedhelm Brassel
The association of dural arteriovenous fistulas (DAVF) in children with Vein of Galen malformation (VGM) has recently been reported for the first time. In a larger series of cases treated with transarterial NBCA embolization, 30% had DAVF. We wanted to analyze the development of DAVF in our cohort of children with VGM and to evaluate whether their occurrence depends on different treatment timing and embolic materials. We analyzed 43 VGM cases treated with a combined transarterial and transvenous approach between 2003 and 2016...
January 1, 2017: Interventional Neuroradiology
https://www.readbyqxmd.com/read/29082570/galenic-pial-arteriovenous-fistulas-angioarchitecture-clinical-presentation-and-therapeutic-considerations
#9
REVIEW
Michael George Zaki Ghali
Vein of Galen aneurysmal malformations (VGAMs) are complex vascular lesions. Their etiopathogenesis is extensively debated and remains poorly understood. Strictly speaking, true VGAMs are Galenic pial arteriovenous fistulas. They are believed to arise in utero and are contended to drain either into the true vein of Galen or the median prosencephalic vein of Markowski. Several classification systems have been proposed and are widely used. With the advent of endovascular therapy, precise understanding of the angioarchitecture is critical for management and therapeutic decision making...
October 30, 2017: Clinical Anatomy
https://www.readbyqxmd.com/read/28982789/endovascular-treatment-of-vein-of-galen-malformations-a-systematic-review-and-meta-analysis
#10
W Brinjikji, T Krings, M H Murad, A Rouchaud, D Meila
BACKGROUND: Outcomes after endovascular embolization of vein of Galen malformations remain relatively poorly described. PURPOSE: We performed a systematic review of the literature to determine outcomes and predictors of good outcomes following endovascular treatment of vein of Galen malformations. DATA SOURCES: We used Ovid MEDLINE, Ovid Embase, and the Web of Science. STUDY SELECTION: Our study consisted of all case series with ≥4 patients receiving endovascular treatment of vein of Galen malformations published through January 2017...
October 5, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28928561/periprocedural-management-of-vein-of-galen-aneurysmal-malformation-patients-an-11-year-experience
#11
Ajay Prasad Hrishi, Karen Ruby Lionel
CONTEXT: The vein of Galen aneurysmal malformation (VGAM) is a rare arteriovenous malformation where a dilated median prosencephalic vein provides a low-resistance conduit for intracerebral blood flow resulting in high-output cardiac failure, severe pulmonary hypertension, with or without central nervous system symptoms secondary to hydrocephalus, in the neonatal and pediatric population. AIM: This study aims to analysis of the anesthetic management of this unique subset of patients with VGAM...
July 2017: Anesthesia, Essays and Researches
https://www.readbyqxmd.com/read/28859024/spontaneous-resolution-of-venous-aneurysms-after-transarterial-embolization-of-a-variant-superior-sagittal-sinus-dural-arteriovenous-fistula-case-report-and-literature-review
#12
Weizheng Song, Hong Sun, Jin Liu, Li Liu, Jia Liu
We present a rare case of dural arteriovenous fistula (DAVF) with subarachnoid hemorrhage and intraventricular hemorrhage due to its venous aneurysms. A 63-year-old woman was admitted for a sudden loss of consciousness. Computed tomography angiograph, magnetic resonance imaging angiography, and digital subtraction angiography revealed a superior sagittal sinus DAVF. The fistula was fed by the left middle meningeal artery and left internal carotid artery, and was drained by a right vein of Trolard, the superficial Sylvian vein, deep Sylvian vein, and basal vein to the vein of Galen...
September 2017: Neurologist
https://www.readbyqxmd.com/read/28828131/giant-vein-of-galen-malformation-in-an-adult
#13
Mena G Kerolus, Lee A Tan, Demetrius K Lopes
Vein of Galen malformations (VoGMs) are rare vascular malformations resulting from persistent shunting of primitive choroidal vessels into the median prosencephalic vein of Markowski. VoGMs are associated with poor clinical outcome with a reported 76.7% mortality if left untreated. We present an exceedingly rare case of a giant, untreated VoGM measuring 7.8 × 5.5 × 7 cm in a 42-year-old man. The embryologic origin, classification, clinical manifestations, and treatment options of VoGMs are discussed with a review of pertinent literature...
September 2017: Radiology Case Reports
https://www.readbyqxmd.com/read/28828053/ultrasound-prenatal-diagnosis-and-emergency-interventional-radiologic-therapy-of-galen-aneurysmal-malformation-in-a-newborn
#14
Roxana Elena Bohiltea, Natalia Turcan, Cristian Mihalea, Bogdan Dorobat, Eliza Elena Cinteza, Adriana Dan, Magdalena Mihai, Adela Dimitriade, Cristian Boros, Mircea Dumitru, Ionut Gobej, Octavian Munteanu, Monica Mihaela Cirstoiu
Located under the cerebral hemispheres and draining the anterior and central regions of the brain into the sinus of the posterior cerebral fossa, the vein of Galen aneurysmal malformation is considered to be a rare cause of hydrocephaly. The presence of this condition in the neonatal period typically includes intractable heart failure and a poor prognosis. We report a case of aneurysm of the vein of Galen diagnosed prenatally at 28 weeks of gestation, with the delivery at term by caesarean section of a female infant...
December 2016: Mædica
https://www.readbyqxmd.com/read/28746188/antenatal-diagnosis-and-prognostic-factors-of-aneurysmal-malformation-of-the-vein-of-galen-a-case-report-and-literature-review
#15
REVIEW
Doru Herghelegiu, Cringu A Ionescu, Irina Pacu, Roxana Bohiltea, Catalin Herghelegiu, Simona Vladareanu
RATIONALE: Vein of Galen aneurysmal malformation (VGAM) is a rare complex malformation of the cerebral vascular system consisting of arteriovenous shunts between the vein of Galen and the cerebral arteries. PATIENT CONCERNS: We present the case of a 31-year-old pregnant woman, para 1, gravida 1. DIAGNOSES: At 26 weeks' gestation who was examined for an anechoic mass on the cerebral median midline with color and pulsed Doppler. She presented with positive flow on the color and pulsed Doppler test, associated with hydrocephalus, cortical hypoplasia, cardiomegaly, jugular vein distension...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28689342/superselective-transvenous-embolization-with-onyx-and-n-bca-for-vein-of-galen-aneurysmal-malformations-with-restricted-transarterial-access-safety-efficacy-and-technical-aspects
#16
Kirill Orlov, Anton Gorbatykh, Vadim Berestov, Timur Shayakhmetov, Dmitry Kislitsin, Pavel Seleznev, Nikolay Strelnikov
PURPOSE AND METHODS: Superselective transvenous embolization (TVE) with liquid embolic agents is a new concept in treatment of vein of Galen aneurysmal malformations (VGAM). We performed ten sessions of TVE in VGAM patients with restricted transarterial access. In this paper, we assessed clinical and angiographic outcomes of the proposed treatment and discussed three different TVE techniques with regard to morphology of the shunt and outflow tract. Safety and avoidance-of-complication tips were also discussed...
November 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28338447/vein-of-galen-malformation-treated-with-the-micro-vascular-plug-system-case-report
#17
Woojin Joo, Philippe Mercier, Shiva Kheradmand, Peyman Shirani, Ahmed Sarhan, Samer K Elbabaa, Randall C Edgell
This case report describes the use of the Micro Vascular Plug (MVP) system in a mural-type vein of Galen aneurysmal malformation, resulting in successful occlusion of the cerebrovascular fistula. This result was confirmed with immediate cessation in blood flow and 6-month follow-up angiography. The unique characteristics of the MVP provide potential advantages over current embolic techniques for occlusion of high-flow, fistulous, intracranial vessels such as those seen in the vein of Galen aneurysmal malformation, and may represent a valuable addition to the currently available options...
June 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28224101/vein-of-galen-malformation-in-a-neonate-a-case-report-and-review-of-endovascular-management
#18
Surasak Puvabanditsin, Rajeev Mehta, Kristy Palomares, Natalie Gengel, Christina Ferrucci Da Silva, Sudipta Roychowdhury, Gaurav Gupta, Arun Kashyap, David Sorrentino
Vein of Galen malformation (VOGM) is a rare congenital vascular malformation caused by the maldevelopment of its embryonic precursor, the median prosencephalic vein of Markowski. VOGM results in neonatal morbidity and mortality, and premature delivery does not improve the outcome. We report a term female neonate in whom a vein of Galen malformation was diagnosed prenatally at 37 wk of gestation during a growth ultrasound and confirmed by fetal magnetic resonance imaging. Signs of cardiac decompensation were evident in the fetus...
February 8, 2017: World Journal of Clinical Pediatrics
https://www.readbyqxmd.com/read/28180030/serial-measurement-of-superior-vena-cava-flow-in-evaluation-of-the-clinical-severity-of-pial-arteriovenous-fistula-in-an-infant
#19
Mako Ago, Kenichi Masumoto, Atsushi Uchiyama, Yasuo Aihara, Yoshikazu Okada, Satoshi Kusuda
Background Pial arteriovenous fistula (AVF) is composed of one or more direct arterial feeding vessels with a single draining vein without nidus. A patient with the disease with high-flow AV shunting in the neonatal period not only suffers from high-output cardiac failure but also shows secondary neurological sequelae. In vein of Galen aneurysmal malformation, superior vena cava (SVC) flow measurements provide useful prognostic information. Case Presentation We measured serial SVC flow in a male infant with pial AVF...
January 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/28092907/sinus-thrombosis-after-endovascular-treatment-of-vein-of-galen-aneurysmal-malformation
#20
Zeferino Demartini, Marcio Luis Tostes Dos Santos, Gelson Luis Koppe, Adriane de Andre Cardoso-Demartini
No abstract text is available yet for this article.
2017: Pediatric Neurosurgery
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