Yazici Mutlu Uysal, Cil Barbaros, Bayrakci Benan, Sasmaz Necati, Baysoy Gokhan, Gurakan Figen
Department of Pediatric Intensive Care, Hacettepe University, School of Medicine, Ankara, Turkey.
Department of Radiology, Hacettepe University, School of Medicine, Ankara, Turkey.
J Pediatr Intensive Care. 2018 Mar;7(1):54-58. doi: 10.1055/s-0037-1603822. Epub 2017 Jun 21.
Individuals with trisomy 21 have an 80% risk reduction of vascular anomalies compared with general population. However, an association of trisomy 21 and portal vascular and arteriovenous anomalies has been defined in the literature. The primary hemodynamic abnormality in portal hypertension is increased resistance to portal blood flow. In various case reports in adults and pediatric age group patients, transarterial coil embolization of hepatoportal fistula was described. One of the authors of this article has previously reported successful treatment of congenital arterioportal fistula (APF) with percutaneous transhepatic liquid embolization in a patient who previously had transarterial coil embolization. To date, eight patients with trisomy 21 (Down syndrome) and congenital portosystemic shunts were reported of which four were treated with embolization. Here, we describe a 3-month-old infant with trisomy 21 and intrahepatic APF associated with extrahepatic portal hypertension and massive ascites. In the current report, a rare case of a patient with a diagnosis of trisomy 21 is discussed who was attempted to be treated with transarterial coil embolization and percutaneous transhepatic liquid embolization of the congenital APF in a single session.
与普通人群相比，21三体综合征患者发生血管异常的风险降低80%。然而，文献中已明确21三体综合征与门静脉血管及动静脉异常之间存在关联。门静脉高压的主要血流动力学异常是门静脉血流阻力增加。在成人和儿童患者的各种病例报告中，均描述了经动脉线圈栓塞治疗肝门静脉瘘的情况。本文的一位作者此前曾报道，在一名曾接受经动脉线圈栓塞治疗的患者中，经皮经肝液体栓塞成功治疗了先天性动门静脉瘘（APF）。迄今为止，共报道了8例21三体综合征（唐氏综合征）合并先天性门体分流的患者，其中4例接受了栓塞治疗。在此，我们描述了一名3个月大的21三体综合征婴儿，其患有肝内APF，合并肝外门静脉高压和大量腹水。在本报告中，讨论了一例诊断为21三体综合征的罕见病例，该患者尝试在一次治疗中同时接受经动脉线圈栓塞和先天性APF的经皮经肝液体栓塞治疗。
