PDF(Pubmed)
Abstract：
UNASSIGNED: Down syndrome is due to trisomy 21 and is characterized by intellectual disability, dysmorphic facial features, congenital malformations, and gastrointestinal abnormalities. There is an increased appreciation of congenital portosystemic shunts in Down syndrome patients. Congenital portosystemic shunts have been associated with many defects in body systems, including cardiac, metabolic, and neurological.
UNASSIGNED: Herein, we describe a portosystemic shunt in a Down syndrome patient that resulted in hyperammonemia with altered mental status and choreiform movements. Computed tomography angiography of the abdomen and pelvis identified a connection between the right portal vein and inferior vena cava. An 18 mm Amplatzer PFO closure device was placed within the congenital shunt, significantly improving symptoms. The patient has no sequelae from the related shunt or the device at the 2-year follow-up. We extensively reviewed the literature and identified cases of portosystemic shunts in Down syndrome patients. Shunts can either be extrahepatic or intrahepatic and are classified by vasculature connections.
UNASSIGNED: From our literature review and case presentation, we identify other conditions in patients, including cardiac and gastrointestinal defects. We then review the available treatment options, whether observation or surgical, depending on the patient\'s clinical picture.
UNASSIGNED: Herein, we describe a portosystemic shunt in a Down syndrome patient that resulted in hyperammonemia with altered mental status and choreiform movements. Computed tomography angiography of the abdomen and pelvis identified a connection between the right portal vein and inferior vena cava. An 18 mm Amplatzer PFO closure device was placed within the congenital shunt, significantly improving symptoms. The patient has no sequelae from the related shunt or the device at the 2-year follow-up. We extensively reviewed the literature and identified cases of portosystemic shunts in Down syndrome patients. Shunts can either be extrahepatic or intrahepatic and are classified by vasculature connections.
UNASSIGNED: From our literature review and case presentation, we identify other conditions in patients, including cardiac and gastrointestinal defects. We then review the available treatment options, whether observation or surgical, depending on the patient\'s clinical picture.
摘要：
■唐氏综合症是由于21三体，以智力残疾为特征，畸形面部特征，先天性畸形,和胃肠道异常。唐氏综合征患者对先天性门体分流的认识有所提高。先天性门体分流与身体系统的许多缺陷有关，包括心脏,新陈代谢，和神经学。
■这里，我们描述了1例唐氏综合征患者的门体分流,导致高氨血症,精神状态和舞蹈样运动改变.腹部和骨盆的计算机断层扫描血管造影确定了右门静脉和下腔静脉之间的连接。将18mmAmplatzerPFO封堵装置放置在先天性分流管内,显著改善症状。在2年的随访中，患者没有相关分流或装置的后遗症。我们广泛回顾了文献，并确定了唐氏综合征患者的门体分流病例。分流可以是肝外或肝内的，并根据脉管系统连接进行分类。
■从我们的文献回顾和案例介绍来看，我们确定患者的其他情况，包括心脏和胃肠道缺陷.然后我们回顾可用的治疗方案，无论是观察还是手术，取决于病人的临床情况。
■这里，我们描述了1例唐氏综合征患者的门体分流,导致高氨血症,精神状态和舞蹈样运动改变.腹部和骨盆的计算机断层扫描血管造影确定了右门静脉和下腔静脉之间的连接。将18mmAmplatzerPFO封堵装置放置在先天性分流管内,显著改善症状。在2年的随访中，患者没有相关分流或装置的后遗症。我们广泛回顾了文献，并确定了唐氏综合征患者的门体分流病例。分流可以是肝外或肝内的，并根据脉管系统连接进行分类。
■从我们的文献回顾和案例介绍来看，我们确定患者的其他情况，包括心脏和胃肠道缺陷.然后我们回顾可用的治疗方案，无论是观察还是手术，取决于病人的临床情况。
