PC3032: Neonatal Presentation of Vein of Galen Aneurysmal Malformation: A Case Report

Introduction: Vein of Galen Malformation (VGAM) is a rare intracranial arteriovenous malformation (AVM) involving shunting of arterial flow into dilated cerebral veins. Patients diagnosed in the postnatal period can present with systemic symptoms. Magnetic resonance imaging (MRI) is the preferred imaging modality and management involves a multidisciplinary approach.

Case Description: We present a 2.71kg early-term male with unremarkable prenatal ultrasounds with respiratory distress and a holosystolic murmur after birth. After eventual transfer to a tertiary care center, an echocardiogram showed right heart failure, tricuspid regurgitation, and persistent pulmonary hypertension. Over the next day, his clinical status gradually deteriorated requiring intubation with laboratory studies suggesting multiorgan failure.
A bulging anterior fontanelle prompted a head ultrasound on the fifth day of life which revealed an A-V shunting. Subsequently, MRI studies confirmed the VGAM. There was profound white matter necrosis and parenchymal petechial hemorrhages. On reviewing Bicêtre's score of < 8 due to multisystem involvement, a multi-disciplinary meeting determined that available interventions would not provide a satisfactory quality of life. His parents opted for comfort and palliative care measures. After compassionate extubation, he passed away due to cardiorespiratory failure within 4 hours.

Discussion: VGAM is a rare disorder involving a dilated venous pouch usually from the persistence of the fetal median prosencephalic vein of Markowski. The Lasjaunias classification categorizes VGAM into 2 types, Type I or choroidal type, and Type II or mural type. MRI/MRA/MRV showed a choroidal type of VGAM after a positive head US in our case. Evaluation of VGAM in utero and in neonates is via screening ultrasound with follow-up using MRI (fetal or neonatal). Angiography is done when the child is a candidate for intervention. However, if diffuse parenchymal brain injury or hemorrhage is seen, neurologic recovery may be poor. Commonly, VGAMs are large enough to be prenatally diagnosed. However, presentation in the neonatal period warrants a high degree of suspicion, particularly considering heart failure after birth. As seen in our patient, congestive heart failure becomes apparent after birth. Ultimately, all these lead to multiorgan failure and result in a poor prognosis. There is a ‘steal’ phenomenon from the cerebral parenchyma leading to brain ischemia and stroke. The most severe neonatal form is called the ‘Melting Brain’. In addition, increased venous pressure may lead to the development of hydrocephalus. Management is multidisciplinary and prognosis depends on the age of presentation as well as the severity.

Conclusion: This rare intracranial vascular malformation requires a high index of suspicion in the neonatal period if there is a multiorgan failure. Timely recognition, imaging to confirm the diagnosis and interdisciplinary interventions remain vital to optimal patient management.