Neonatal bilateral cerebral high flow fistulae leading to detection of a HHT-family carrier

Abstract

Cerebral and spinal cord high-flow arteriovenous fistulae (HFAVF) are part of the spectrum of lesions found in Hereditary Hemorrhagic Telangiectasia (HHT). HFAVF consist of communications between large arteries and veins without interposed nidi or capillary transitions. The association between HHT and cerebral or spinal HFAVF in children has been reported and suggested as a potential marker for HHT. We present a newborn with bilateral intracranial HFAVF tested positive for HHT1 and belonging to a family non known for carrying a HHT mutation. We also review reported cases of neonates and infants with cerebral and spinal HFAVF emphasizing their associations with genetic syndromes. Our aim is to add a new case to the pertinent literature and emphasize the need for molecular testing in children with spinal or brain HFAVF.