Zeng HS, Zhang ZH, Hu Y, Zheng GL, Wang J, Zhang JW, Guo YX. Alagille syndrome associated with total anomalous pulmonary venous connection and severe xanthomas: A case report. World J Clin Cases 2022; 10(25): 8932-8938 [PMID: 36157644 DOI: 10.12998/wjcc.v10.i25.8932]
Corresponding Author of This Article
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
Research Domain of This Article
Genetics & Heredity
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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: http://creativecommons.org/licenses/by-nc/4.0/
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
Abstract
BACKGROUND
Alagille syndrome (ALGS) is an autosomal dominant genetic disorder caused by mutations in the JAG1 or NOTCH2 gene. It is characterized by decreased intrahepatic bile ducts associated with a variety of abnormalities in many other organ systems, such as the cardiovascular, skeletal, and urinary systems.
CASE SUMMARY
We report a rare case of ALGS. A 1-month-old male infant presented with sustained jaundice and had a rare congenital heart disease: Total anomalous pulmonary venous connection (TAPVC). Sustained jaundice, particularly with cardiac murmur, caught our attention. Laboratory tests revealed elevated levels of alanine aminotransferase, aspartate aminotransferase, gamma-glutamyl transpeptidase, total bilirubin, and total bile acids, indicating serious intrahepatic cholestasis. Imaging confirmed the presence of butterfly vertebra at the seventh thoracic vertebra. This suggested ALGS, which was confirmed by genetic testing with a c.3197dupC mutation in the JAG1 gene. Ursodiol was administered immediately after confirmation of the diagnosis, and cardiac surgery was performed when the patient was 1.5 month old. He recovered well after treatment and was discharged at the age of 3 mo. At the age of two years, the patient returned to our clinic because multiple cutaneous nodules with xanthomas appeared, and their size and number increased over time.
CONCLUSION
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.
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.
