Division of Interventional Neuroradiology, University of North Carolina School of Medicine, Chapel Hill, NC, USA.
Department of Neurosurgery at the University of North Carolina School of Medicine, Chapel Hill, NC, USA.
Interv Neuroradiol. 2021 Aug;27(4):547-552. doi: 10.1177/1591019920981308. Epub 2020 Dec 22.
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.
脑和脊髓高流量动静脉瘘（HFAVF）是遗传性出血性毛细血管扩张症（HHT）所发现病变的一部分。HFAVF 由大的动脉和静脉之间的沟通组成，没有中间的结节或毛细血管过渡。儿童中 HHT 与脑或脊髓 HFAVF 的关联已经被报道，并被认为是 HHT 的一个潜在标志物。我们介绍了一个新生儿，其双侧颅内 HFAVF 检测 HHT1 阳性，属于一个家族，该家族没有已知的 HHT 突变。我们还回顾了报告的新生儿和婴儿脑和脊髓 HFAVF 的病例，强调了它们与遗传综合征的关联。我们的目的是在相关文献中增加一个新病例，并强调对脊髓或脑 HFAVF 的儿童进行分子检测的必要性。
