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

被引:0
作者
Nohomovich, Brian [1 ]
Nguyen, Minh H. N. [2 ]
Fakhoury, Joseph [3 ]
Cameron, Russell C. [4 ]
Gomes, Theotonius [1 ,5 ]
机构
[1] Western Michigan Univ, Homer Stryker MD Sch Med, Dept Internal Med, Kalamazoo, MI 49008 USA
[2] Univ S Florida, Dept Pediat, St Petersburg, FL USA
[3] Bronson Childrens Hosp, Pediat Hosp Med, Kalamazoo, MI USA
[4] Bronson Childrens Hosp, Pediat Gastroenterol, Kalamazoo, MI USA
[5] Western Michigan Univ, Homer Stryker MD Sch Med, Dept Pediat & Adolescent Med, Kalamazoo, MI USA
关键词
Congenital portosystemic shunt; Down syndrome; Case report; Pediatrics; Hyperammonemia; PORTAL-VEIN; CLASSIFICATION; CHILDREN; ABSENCE; SYSTEM;
D O I
10.1159/000535477
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
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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收藏
页码:367 / 375
页数:9
相关论文
共 26 条
[1]  
Abernethy John., 1793, Philosophical Transactions, V83, P59, DOI DOI 10.1098/RSTL.1793.0010
[2]   Congenital Portosystemic Shunts in Children: Recognition, Evaluation, and Management [J].
Bernard, O. ;
Franchi-Abella, S. ;
Branchereau, S. ;
Pariente, D. ;
Gauthier, F. ;
Jacquemin, E. .
SEMINARS IN LIVER DISEASE, 2012, 32 (04) :273-287
[3]   Congenital Portosystemic Shunts in Children: Associations, Complications, and Outcomes [J].
DiPaola, Frank ;
Trout, Andrew T. ;
Walther, Ashley E. ;
Gupta, Anita ;
Sheridan, Rachel ;
Campbell, Kathleen M. ;
Tiao, Greg ;
Bezerra, Jorge A. ;
Bove, Kevin E. ;
Patel, Manish ;
Nathan, Jaimie D. .
DIGESTIVE DISEASES AND SCIENCES, 2020, 65 (04) :1239-1251
[4]  
FABIA J, 1970, PEDIATRICS, V45, P60
[5]   Complications of Congenital Portosystemic Shunts in Children: Therapeutic Options and Outcomes [J].
Franchi-Abella, Stephanie ;
Branchereau, Sophie ;
Lambert, Virginie ;
Fabre, Monique ;
Steimberg, Clarisa ;
Losay, Jean ;
Riou, Jean-Yves ;
Pariente, Daniele ;
Gauthier, Frederic ;
Jacquemin, Emmanuel ;
Bernard, Olivier .
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 2010, 51 (03) :322-330
[6]   Congenital extrahepatic portocaval shunts - The Abernethy malformation [J].
Howard, ER ;
Davenport, M .
JOURNAL OF PEDIATRIC SURGERY, 1997, 32 (03) :494-497
[7]   Insight into congenital absence of the portal vein: Is it rare? [J].
Hu, Guo-Hua ;
Shen, Lai-Gen ;
Yang, Jin ;
Mei, Jin-Hua ;
Zhu, Yue-Feng .
WORLD JOURNAL OF GASTROENTEROLOGY, 2008, 14 (39) :5969-5979
[8]   The classification based on intrahepatic portal system for congenital portosystemic shunts [J].
Kanazawa, Hiroyuki ;
Nosaka, Shunsuke ;
Miyazaki, Osamu ;
Sakamoto, Seisuke ;
Fukuda, Akinari ;
Shigeta, Takanobu ;
Nakazawa, Atsuko ;
Kasahara, Mureo .
JOURNAL OF PEDIATRIC SURGERY, 2015, 50 (04) :688-695
[9]   PORTOHEPATIC SHUNT IN A DOWN-SYNDROME PATIENT WITH AN INTERCHANGE TRISOMY 47,XY,-2,+DER(2),+DER(21)T(2 21)(P13 Q22.1)MAT [J].
KIERAN, MW ;
VEKEMANS, M ;
ROBB, LJ ;
SINSKY, A ;
OUTERBRIDGE, EW ;
DERKALOUSTIAN, VM .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 44 (03) :288-292
[10]   Clinical features of congenital portosystemic shunt in children [J].
Kim, Myung Jin ;
Ko, Jae Sung ;
Seo, Jeong Kee ;
Yang, Hye Ran ;
Chang, Ju Young ;
Kim, Gi Beom ;
Cheon, Jung-Eun ;
Kim, Woo Sun .
EUROPEAN JOURNAL OF PEDIATRICS, 2012, 171 (02) :395-400