Down Syndrome Patients with Congenital Portosystemic Shunts: A Case Report and Review.

IF 0.5 Q4 GASTROENTEROLOGY & HEPATOLOGY Case Reports in Gastroenterology Pub Date : 2023-12-18 eCollection Date: 2023-01-01 DOI:10.1159/000535477
Brian Nohomovich, Minh H N Nguyen, Joseph Fakhoury, Russell C Cameron, Theotonius Gomes
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Abstract

Introduction: 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.

Case presentation: 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.

Conclusion: 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.

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患有先天性门静脉分流的唐氏综合征患者:病例报告与回顾
简介唐氏综合征是由 21 三体综合征引起的,以智力障碍、面部畸形、先天性畸形和胃肠道异常为特征。唐氏综合征患者先天性门静脉分流的发生率越来越高。先天性门静脉分流与许多身体系统缺陷有关,包括心脏、代谢和神经系统:在此,我们描述了一名唐氏综合征患者的门静脉分流术,该分流术导致了高氨血症,并伴有精神状态改变和舞蹈样运动。腹部和盆腔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。在先天性分流处放置了一个18毫米的Amplatzer PFO闭合装置,明显改善了症状。在两年的随访中,患者没有因相关分流或装置而留下后遗症。我们广泛查阅了相关文献,发现了唐氏综合征患者门静脉分流的病例。分流可以是肝外分流,也可以是肝内分流,并根据血管连接情况进行分类:通过文献回顾和病例介绍,我们发现了患者的其他病症,包括心脏和胃肠道缺陷。然后,我们根据患者的临床表现,回顾了现有的治疗方案,无论是观察治疗还是手术治疗。
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来源期刊
Case Reports in Gastroenterology
Case Reports in Gastroenterology Medicine-Gastroenterology
CiteScore
1.10
自引率
0.00%
发文量
99
审稿时长
7 weeks
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