ULTRASOUND-BASED DIAGNOSIS AND MANAGEMENT OF VEIN OF GALEN ANEURYSMAL MALFORMATION IN A NEONATE: A CASE REPORT AND COMPREHENSIVE LITERATURE REVIEW

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.