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Vein of Galen malformation

Summary

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  • Rare congenital cerebrovascular anomaly characterised by arteriovenous shunting into a dilated median prosencephalic vein of Markowski
  • Presents in neonates or infants with high-output cardiac failure, macrocephaly, or seizures
  • Diagnosis relies on neuroimaging, with treatment typically involving endovascular embolization1

Pathophysiology

  • Abnormal connection between cerebral arteries and embryonic precursor of vein of Galen (median prosencephalic vein)
  • Results in high-flow arteriovenous shunt
  • Leads to:
    • Venous hypertension
    • Increased cardiac output
    • Potential hydrocephalus due to venous outflow obstruction

Demographics

  • Incidence: 1 in 25,000 live births
  • Accounts for 30% of paediatric vascular malformations
  • Male to female ratio: 2:1
  • Usually diagnosed prenatally or in early infancy

Diagnosis

  • Clinical presentation:
    • Neonates: high-output cardiac failure, pulmonary hypertension
    • Infants: macrocephaly, hydrocephalus, seizures
    • Older children: developmental delay, headaches
  • Physical examination:
    • Cranial bruit
    • Prominent scalp veins
    • Signs of congestive heart failure

Imaging

  • Ultrasound:
    • Antenatal: dilated midline vascular structure posterior to third ventricle
    • Postnatal: colour Doppler shows high-flow vascular malformation
  • CT:
    • Dilated vein of Galen
    • Potential hydrocephalus or parenchymal calcifications
  • MRI and MRA:
    • Gold standard for detailed evaluation
    • Demonstrates feeding arteries, nidus, and venous drainage
    • T2-weighted images show flow voids
    • Time-of-flight MRA delineates arterial feeders
  • Cerebral angiography:
    • Definitive imaging modality
    • Essential for treatment planning
    • Classifies malformation (choroidal or mural type)

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  • Fetal MRI showed a gross dilatation of the vein of Galen and the transverse sinuses.

Treatment

  • Staged endovascular embolisation, with management of high-output cardiac failure in neonates. The dilated midline median prosencephalic vein with arteriovenous shunting is the diagnostic finding

Differential diagnosis

Differential Diagnosis Differentiating Feature
Arachnoid cyst Lacks flow voids on MRI; no arteriovenous shunting
Pineal region tumour Solid mass rather than vascular structure; no arteriovenous shunting
Choroid plexus papilloma Intraventricular location; solid, enhancing mass
Arteriovenous malformation Nidus of abnormal vessels; usually not midline
Aneurysm of the vein of Galen Single dilated vein without arteriovenous shunting
Dural sinus malformation Involves dural sinuses; slower flow dynamics
Porencephalic cyst Fluid-filled cavity in brain parenchyma; no vascular component
Hydrocephalus Ventricular dilatation without vascular malformation
Subdural haematoma Extra-axial collection; no vascular malformation
Sturge-Weber syndrome Leptomeningeal angiomatosis; cortical calcifications

  1. Duran et al. Human genetics and molecular mechanisms of vein of Galen malformation. 2018. Journal of neurosurgery. Pediatrics - Open in new tab. ↩