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

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. PMID: 33353465 [PubMed - as supplied by publisher]
Source: Interventional Neuroradiology - Category: Radiology Tags: Interv Neuroradiol Source Type: research