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

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 t

SUBMITTER: Nohomovich B 

PROVIDER: S-EPMC10727516 | biostudies-literature | 2023 Jan-Dec

REPOSITORIES: biostudies-literature