Cross-sectional study of a United Kingdom cohort of neonatal vein of galen malformation

Abstract

Objective: Describe the course and outcomes in a UK national cohort of neonates with vein of Galen malformation identified before 28 days of life.

Methods: Neonates with angiographically confirmed vein of Galen malformation presenting to 1 of 2 UK treatment centers (2006-2016) were included; those surviving were invited to participate in neurocognitive assessment. Results in each domain were dichotomized into "good" and "poor" categories. Cross-sectional and angiographic brain imaging studies were systematically interrogated. Logistic regression was used to explore potential outcome predictors.

Results: Of 85 children with neonatal vein of Galen malformation, 51 had survived. Thirty-four participated in neurocognitive assessment. Outcomes were approximately evenly split between "good" and "poor" categories across all domains, namely, neurological status, general cognition, neuromotor skills, adaptive behavior, and emotional and behavioral development. Important predictors of poor cognitive outcome were initial Bicêtre score ≤ 12 and presence of brain injury, specifically white matter injury, on initial imaging; in multivariate analysis, only Bicêtre score ≤ 12 remained significant.

Interpretation: Despite modern supportive and endovascular treatment, more than one-third of unselected newborns with vein of Galen malformation did not survive. Outcome was good in around half of survivors. The importance of white matter injury suggests that abnormalities of venous as well as arterial circulation are important in the pathophysiology of brain injury. Ann Neurol 2018;84:547-555.

Figure 1

Patients and recruitment.

Figure 2

(A–E) Brain magnetic resonance imaging (MRI; A, D, E) and cerebral angiographic (B, C) images from a patient with choroidal vein of Galen malformation (VGM) diagnosed on third trimester antenatal ultrasound. She was delivered at term with no perinatal complications. (A) Brain MRI on day 1 of life demonstrated white matter volume loss with a large vein of Galen malformation; the prominent transmedullary veins likely represent significant venous hypertension. She was in severe high‐output cardiac failure necessitating ventilation, with rising inotrope requirement and early hepatic and renal failure. (B, C) She underwent embolization on day 2 of life; angiography demonstrated numerous choroidal feeders to the VGM malformation and poor cerebral perfusion. The cardiac failure came under control after this embolization. (D) However, having been neurologically stable for 2 weeks after this, she had a spontaneous right thalamic hemorrhage with intraventricular extension and secondary hydrocephalus. A ventriculoperitoneal shunt was inserted. (E) Three further embolizations were performed in the subsequent 12 months, with final angiography at 14 months showing small residual arteriovenous shunt. (F) The most recent brain MRI at 4 years of age demonstrates marked white matter volume loss, with a lesser degree of cortical volume loss affecting the medial occipital lobes. No further embolizations are planned. Her clinical outcome was categorized as “poor” across all domains tested.