Distinctive neck swelling in a patient with a vein of Galen arteriovenous malformation

Abstract

A vein of Galen arteriovenous malformation (VGAM) is a rare intracranial shunt lacking a capillary bed and resulting in subsequent aneurysmal enlargement. VGAM has been previously reported to present as cardiovascular abnormalities, including increased right-sided cardiac load and pressure, cardiac dilatation, pulmonary hypertension and retrograde flow into the aortic arch. We report the first case of VGAM presenting as a gross right-sided neck swelling in a 39-week-old immediately at birth. Transthoracic echocardiography detected dilatation of the superior vena cava and innominate vein, increased right ventricular and pulmonary arterial pressure, and retrograde flow into the aortic arch. Follow-up neck ultrasound revealed tortuous carotid artery and bilateral dilatation of neck veins. Transcranial ultrasound revealed abnormally dilated vessels posterior to the third ventricle, confirming VGAM. Our case demonstrates that while the differential diagnoses of neck swelling are extensive, such a presentation upon Doppler and echocardiographic investigation, may be suggestive of extracardiac causes such as VGAM. The management of such a condition remains critical due to risk of hemorrhage and extensive cerebral involvement.