Congenital arteriovenous fistula of the brain with an atrial septal defect: case report

Abstract

Introduction: Aneurysmal malformation of the vein of Galen (AVG) is caused by an arteriovenous fistula (AVF) between the basal arteries and deep venous sinuses of the brain. Congenital forms of AVG are potentially fatal, leading to a left-to-right shunt and cardiomegaly, and the death is most commonly as a result of cardiac failure. We present a case with an AVF of brain with an ASD. Material and methods: A mature male baby born at gestational week 38 was admitted to PICU with tachydyspnoe 4 h after birth. Ultrasound (US) and computed tomography scans of the brain detected a large bilateral AVF with dilated basal arteries and venous sinuses (sinus petrosus, sinus confluens, sinus transvs. and sagittal inferior sinus), hydrocephalus and brain atrophy. Cardiac US showed right ventricular hypertrophy, persistent ductus Botall and ASD. The patient died of cardiac failure 6 days after birth. Results: Autopsy examination of the brain showed dilatation of the vein of Galen and venous sinuses, a large conglomerate of dilated blood vessels in the midline and left occipital lobe, oedema and hydrocephalus. Examination of the heart confirmed Us findings and showed an ostium secundum ASD. Histologically, the occipital mass revealed features of an AVF, consistent with AVG. Chronic ischaemic lesions with ferruginated neurons were also present. Conclusions: The presence of chronic hypoxic changes in the brain suggests intrauterine damage as a result of a congenital AVF. The left-to-right shunt, in addition to causing cardiomegaly, may also have interfered with the development of the atrial septum, leading to an ostium secundum ASD, aggravating the clinical course.