Vein of Galen Malformation Masquerading as Neonatal Respiratory Distress

Vein of Galen malformation (VoGM) is a rare congenital vascular anomaly. It represents a well-recognized extracardiac cause of high-output cardiac failure in the neonatal period. We report a case of a 3.5-month-old boy who presented for routine vaccination and was incidentally found to have macrocephaly (head circumference 44.5 cm, >99th percentile) with early sun-setting eyes. He was otherwise well-appearing with a normal neurological examination. Bedside cranial ultrasound revealed bilateral lateral and third ventricular dilation with a cystic mass compressing the aqueduct, and brain MRI confirmed a dilated cystic malformation of the vein of Galen as the cause of obstructive hydrocephalus. His past medical history was significant for severe neonatal respiratory distress complicated by pulmonary hypertension and congestive heart failure, initially attributed to neonatal pneumonia. This case highlights that VoGM should be considered in the differential diagnosis of neonatal persistent pulmonary hypertension (PPHN) and high-output heart failure, even when a concurrent respiratory illness is present, and emphasizes the value of bedside cranial Doppler ultrasound and thorough physical examination including fontanel auscultation.