Division of Pediatric Pulmonology, Mayo Clinic, Rochester, MN, USA.
Division of Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, MN, USA.
Interv Neuroradiol. 2022 Apr;28(2):132-135. doi: 10.1177/15910199211022499. Epub 2021 May 29.
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant hereditary disorder that results in arteriovenous malformations (AVMs) in the nose, mucocutaneous surfaces and visceral organs, including lung, brain, liver, bowel and rarely spinal cord. We describe a case of a young child with HHT who presented with acute paraparesis due to acute thrombosis of a spinal perimedullary arteriovenous fistula. Patient underwent coil embolization of spinal arteriovenous shunt with resolution of clinical symptoms. This case highlights the possibility of catastrophic complications in young children with HHT, the potential preventive role of screening for spinal AVMs in HHT and the importance of timely intervention.
遗传性出血性毛细血管扩张症(HHT)是一种常染色体显性遗传性疾病,可导致鼻、黏膜表面和内脏器官(包括肺、脑、肝、肠,罕见情况下还包括脊髓)出现动静脉畸形(AVM)。我们描述了一例患有 HHT 的幼儿病例,该患者因脊髓髓周动静脉瘘急性血栓形成而出现急性截瘫。患者接受了脊髓动静脉分流栓塞术,临床症状得到缓解。本病例提示 HHT 幼儿可能发生灾难性并发症,HHT 患者筛查脊髓 AVM 的潜在预防作用,以及及时干预的重要性。