Vein of Galen Malformation with Diencephalic Syndrome: A Clinical Pathologic Report

Abstract

A vein of Galen malformation is a dural extracranial vascular anomaly resulting in direct arteriovenous fistulae between the choroid or quadrigeminal arteries and an overlying single venous sac. The disorder can be identified on prenatal ultrasound examination and presents with macrocrania, with or without congestive heart failure, or cranial bruit. Therapeutic measures have included surgical clipping of feeding arteries and transarterial placement of wire, coils, or "bird cages. ^"2 Recently, newer endovascular techniques involving both a transarterial and transvenous approach have been promising. Prognosis for infants with the disorder remains poor, although improved with new endovascular techniques. Morbidity and mortality have improved to approximately 40% with mild to severe neurologic deficits.3 One cause of significant pre- and posttreatment morbidity might be the presence of vascular steal leading to visual deterioration, seizures, and signs of parenchymal loss, at times with striking progression. ⁴ The diencephalic syndrome of emaciation or failure to gain weight in an infant with extreme irritability or euphoria has not been reported previously with the vein of Galen malformation and is usually associated with a hypothalamic or chiasmatic glioma.