ULTRASOUND-BASED DIAGNOSIS AND MANAGEMENT OF VEIN OF GALEN ANEURYSMAL MALFORMATION IN A NEONATE: A CASE REPORT AND COMPREHENSIVE LITERATURE REVIEW
DOI:
https://doi.org/10.31435/ijitss.3(51).2026.6132Keywords:
Vein of Galen Aneurysmal Malformation, Transfontanellar Ultrasonography, Neonatal Heart Failure, Transarterial Embolization, Pediatric NeurosonographyAbstract
Background: Vein of Galen aneurysmal malformations (VGAMs) represent a complex and rare subset of congenital arteriovenous anomalies, comprising approximately 30% of all pediatric cerebral vascular malformations. Originating during early embryogenesis between the 6th and 11th weeks of gestation, these lesions create a low-resistance, high-flow shunt. Consequently, they frequently precipitate life-threatening complications, most notably high-output heart failure and severe neurological compromise in the immediate postnatal period, necessitating prompt and accurate diagnostic strategies.
Aim: The primary objective of this study is to elucidate the critical, first-line diagnostic and monitoring role of bedside transfontanellar ultrasonography in the management of neonatal VGAMs. Additionally, we aim to contextualize these clinical findings within a comprehensive review of the current literature, emphasizing recent paradigm shifts in neurointensive care and endovascular therapies.
Material and methods: We report the clinical case of a 4-week-old male newborn admitted to the emergency department with recurrent generalized seizures, progressive macrocephaly, and profound perioral cyanosis. A detailed clinical evaluation was conducted, prioritizing bedside neurosonography. This clinical presentation is supplemented by a comprehensive literature review exploring the evolving landscape of VGAM management, including molecular genetics and fetal interventions.
Results: Urgent transfontanellar ultrasonography augmented by color Doppler identified a prominent hypoechoic arteriovenous malformation demonstrating high-velocity turbulent flow. This was accompanied by secondary findings of lateral ventricle dilatation and diffuse parenchymal calcifications indicative of chronic ischemic injury. The precise neurovascular architecture was subsequently verified via Magnetic Resonance Imaging (MRI). Following multidisciplinary conservative management to allow for infant growth, the patient successfully underwent transarterial embolization at 7 months of age. A follow-up ultrasound at 9 months confirmed a significant reduction in arteriovenous shunting and stabilization of the cerebral structures.
Conclusions: Bedside transfontanellar ultrasonography serves as an indispensable, non-invasive, and radiation-free modality for the rapid identification, hemodynamic profiling, and serial follow-up of VGAMs in critically ill neonates. Its integration with advanced, staged endovascular techniques and emerging prenatal in utero interventions fundamentally transforms the clinical trajectory of this historically fatal congenital defect.
References
Gameiro, I., Figueiredo, A. M., Queirós, H., Veiga, R., Machado, E., & Dionísio, T. (2024). Neonatal vein of Galen malformation: A rare cause of high-output heart failure. Journal of Paediatrics and Child Health, 60(11), 757–760. https://doi.org/10.1111/jpc.16669
Buratti, S., Mallamaci, M., Tuo, G., Severino, M., Tortora, D., Parodi, C., Rossi, A., Pasetti, F., Castellan, L., Capra, V., Romano, F., De Marco, P., Pavanello, M., Piatelli, G., Paladini, D., Calevo, M. G., & Moscatelli, A. (2023). Vein of Galen aneurysmal malformation in newborns: A retrospective study to describe a paradigm of treatment and identify risk factors of adverse outcome in a referral center. Frontiers in Pediatrics, 11, 1193738. https://doi.org/10.3389/fped.2023.1193738
Berenstein, A., Fifi, J. T., Niimi, Y., Presti, S., Ortiz, R., Ghatan, S., Rosenn, B., Sorscher, M., & Molofsky, W. (2012). Vein of Galen malformations in neonates: New management paradigms for improving outcomes. Neurosurgery, 70(5), 1207–1214. https://doi.org/10.1227/NEU.0b013e3182417be3
Clarke, N. E., Shekhawat, J., Popat, H., Lord, D. J. E., & Abdel-Latif, M. E. (2024). Vein of Galen aneurysmal malformation: A case report. Healthcare (Basel, Switzerland), 12(7), 716. https://doi.org/10.3390/healthcare12070716
Lasjaunias, P. L., Chng, S. M., Sachet, M., Alvarez, H., Rodesch, G., & Garcia-Monaco, R. (2006). The management of vein of Galen aneurysmal malformations. Neurosurgery, 59(5 Suppl 3), S184–S13. https://doi.org/10.1227/01.NEU.0000237445.39514.16
Banjac, L., & Banjac, B. (2024). Vein of Galen aneurysmal malformation in a neonate. Acta Clinica Croatica, 63(1), 203–206. https://doi.org/10.20471/acc.2024.63.01.25
Primikiris, P., Hadjigeorgiou, G., Tsamopoulou, M., Biondi, A., & Iosif, C. (2021). Review on the current treatment status of vein of Galen malformations and future directions in research and treatment. Expert Review of Medical Devices, 18(10), 933–954. https://doi.org/10.1080/17434440.2021.1970527
Kumar, A., Chaturvedi, P., Gulati, S., & Pandey, S. (2026). Vein of Galen aneurysmal malformation: A case report with insights into radiological diagnosis using ultrasonography and magnetic resonance imaging. Cureus, 18(1), e100842. https://doi.org/10.7759/cureus.100842
De La Rosa-Alamilla, M., Chávez-Silva, R., & Uscanga-Carrasco, H. (2024). Uso de ultrasonido en la malformación de vena de Galeno [Use of ultrasound in vein of Galen malformation]. Revista Medica del Instituto Mexicano del Seguro Social, 62(6), 1–5. https://doi.org/10.5281/zenodo.13306799
Orbach, D. B., Shamshirsaz, A. A., Wilkins-Haug, L., Guseh, S., Krispin, E., Tworetzky, W., O'Leary, B., Larson, A. M., Rangwala, S. D., Oushy, S., & See, A. P. (2025). In utero embolization for fetal vein of Galen malformation. JAMA, 334(10), 878–885. https://doi.org/10.1001/jama.2025.12363
Orbach, D., Shamshirsaz, A., & Wilkins-Haug, L. (2026). Fetal vein of Galen malformation-reply. JAMA, 335(4), 369–370. https://doi.org/10.1001/jama.2025.20914
Ruano, R., Abdelsalam, A., Harris, S., Okpaise, O., Paidas, M., Toledo, J., Sanikommu, S., Swaminathan, S., Eatz, T., Guada, L., Luther, E. M., Patel, S. D., Saigal, G., Leary, S. O., McCrea, H. J., & Starke, R. M. (2025). Ultrasound-guided transuterine coil embolization of a vein of Galen malformation. Clinical Neurology and Neurosurgery, 249, 108682. https://doi.org/10.1016/j.clineuro.2024.108682
Gowda, M., Krishnaraj, A., Ambalakkuthan, M., Chinta, N., & Selvan, T. (2024). Reversal of fetal compromise following in utero treatment of vein of Galen malformation using glue. Prenatal Diagnosis, 44(11), 1367–1371. https://doi.org/10.1002/pd.6662
Gravino, G., Aamir, S., Dietvorst, S., Bhatt, K., Robertson, F., Parks, C., Craig, R., Healey, A., Henningan, D., Mallucci, C., Chandran, A., & Puthuran, M. (2025). Vein of Galen aneurysmal malformation treatment with direct open surgical access of the transverse sinus and transvenous selective endovascular embolization: A hybrid approach. Journal of Neurointerventional Surgery, jnis-2025-023490. Advance online publication. https://doi.org/10.1136/jnis-2025-023490
Bursać, D., Stipanović, J., Partl, J. Z., Lučić, D., Hadžić, D., Bošnjak, D. C., & Duić, Ž. (2024). Literature review and case report: Rare case of successful prenatal detection of vein of Galen malformation (VGAM). European Journal of Obstetrics & Gynecology and Reproductive Biology: X, 22, 100306. https://doi.org/10.1016/j.eurox.2024.100306
Hoda, M., Lemler, M., & Cory, M. (2023). Vein of Galen aneurysmal malformation with anomalous right superior vena cava to the left atrium leading to atypical clinical and echocardiographic findings. Pediatric Cardiology, 44(1), 254–259. https://doi.org/10.1007/s00246-022-03057-x
AIUM practice parameter for the performance of neurosonography in neonates and infants. (2020). Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine, 39(5), E57–E61. https://doi.org/10.1002/jum.15264
Page, M. J., McKenzie, J. E., Bossuyt, P. M., Boutron, I., Hoffmann, T. C., Mulrow, C. D., Shamseer, L., Tetzlaff, J. M., Akl, E. A., Brennan, S. E., Chou, R., Glanville, J., Grimshaw, J. M., Hróbjartsson, A., Lalu, M. M., Li, T., Loder, E. W., Mayo-Wilson, E., McDonald, S., … Moher, D. (2021). The PRISMA 2020 statement: An updated guideline for reporting systematic reviews. BMJ (Clinical Research Ed.), 372, n71. https://doi.org/10.1136/bmj.n71
Puvabanditsin, S., Mehta, R., Palomares, K., Gengel, N., Da Silva, C. F., Roychowdhury, S., Gupta, G., Kashyap, A., & Sorrentino, D. (2017). Vein of Galen malformation in a neonate: A case report and review of endovascular management. World Journal of Clinical Pediatrics, 6(1), 103–109. https://doi.org/10.5409/wjcp.v6.i1.103
Savage, C., Hale, A. T., Parr, M. S., Hedaya, A., Saccomano, B. W., Tsemo, G. B., Hafeez, M. U., Tanweer, O., Kan, P., Solomon, L. J., Meila, D., Dirks, P. B., Blount, J. P., Johnston, J. M., Rocque, B. G., Rozzelle, C. J., Bhatia, K., Muthusami, P., Krings, T., & Jones, J. (2022). Outcomes of endovascular embolization for vein of Galen malformations: An individual participant data meta-analysis. Frontiers in Pediatrics, 10, 976060. https://doi.org/10.3389/fped.2022.976060
Juras, A., Wloch, T., Cnota, W., & Wloch, A. (2025). Cardiovascular profile score (CVPS) and selected cardiac parameters in fetuses with vein of Galen malformation. Ginekologia Polska, 96(5), 355–361. https://doi.org/10.5603/gpl.102062
D'Amico, A., Tinari, S., D'Antonio, F., Rizzo, G., Liberati, M., Vasciaveo, L., & Buca, D. (2022). Outcome of fetal vein Galen aneurysmal malformations: A systematic review and meta-analysis. The Journal of Maternal-Fetal & Neonatal Medicine: The Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 35(25), 5312–5317. https://doi.org/10.1080/14767058.2021.1878494
Downloads
Published
Issue
Section
License
Copyright (c) 2026 Alicja Komorowska, Martyna Rutka, Jakub Kądziela, Gabriela Soćko, Barbara Jastrzębska, Alicja Danieluk, Zuzanna Ostrowska, Agnieszka Kulińska, Michalina Prowotorow, Julia Tańska, Oskar Paprocki, Zuzanna Witkowska, Bartosz Rutka
This work is licensed under a Creative Commons Attribution 4.0 International License.
All articles are published in open-access and licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0). Hence, authors retain copyright to the content of the articles.
CC BY 4.0 License allows content to be copied, adapted, displayed, distributed, re-published or otherwise re-used for any purpose including for adaptation and commercial use provided the content is attributed.
