Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Sep 6, 2022; 10(25): 8932-8938
Published online Sep 6, 2022. doi: 10.12998/wjcc.v10.i25.8932
Alagille syndrome associated with total anomalous pulmonary venous connection and severe xanthomas: A case report
Han-Shi Zeng, Zhan-Hui Zhang, Yan Hu, Gui-Lang Zheng, Jing Wang, Jing-Wen Zhang, Yu-Xiong Guo
Han-Shi Zeng, Yan Hu, Gui-Lang Zheng, Jing Wang, Jing-Wen Zhang, Yu-Xiong Guo, Department of Pediatrics, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510030, Guangdong Province, China
Zhan-Hui Zhang, Department of Pediatrics, Clinical Medicine Research Institute, The First Affiliated Hospital, Jinan University, Guangzhou 510630, Guangdong Province, China
Author contributions: Zeng HS conducted data curation and wrote the manuscript; Guo YX revised and approved the final manuscript; all authors contributed to the article and approved the submitted version.
Informed consent statement: The patient’s guardian provided written informed consent to participate in this study. Written informed consent was obtained for the publication of any potentially identifiable images or data included in this article.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Yu-Xiong Guo, MD, Associate Professor, Department of Pediatrics, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences, No. 106 Zhongshan Road, Guangzhou 510030, Guangdong Province, China. 2003kellylaw@163.com
Received: November 24, 2021
Peer-review started: November 24, 2021
First decision: June 7, 2022
Revised: June 13, 2022
Accepted: July 11, 2022
Article in press: July 11, 2022
Published online: September 6, 2022
Processing time: 274 Days and 20 Hours
Core Tip

Core Tip: Total anomalous pulmonary venous connection (TAPVC) and severe xanthomas are rarely reported in Alagille syndrome (ALGS) patients. These two symptoms have never appeared in the same patient at the same time. Here, we report a unique case of ALGS associated with TAPVC and severe xanthomas. This study has enriched the clinical manifestations of ALGS and emphasized the association between JAG1 gene and TAPVC.