Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jul 26, 2023; 11(21): 5179-5186
Published online Jul 26, 2023. doi: 10.12998/wjcc.v11.i21.5179
ADAMTS3 and FLT4 gene mutations result in congenital lymphangiectasia in newborns: A case report
Zhu-Wei Liang, Wan-Li Gao
Zhu-Wei Liang, Wan-Li Gao, Department of Obstetrics and Gynecology, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, China
Author contributions: All authors contributed to the study design, data acquisition and data analysis; All authors reviewed and contributed to the final version of the manuscript; All authors read and approved the final manuscript.
Supported by The Wu Jieping Medical Foundation Clinical Research Special Grant Fund in China, No. 320.6750.2022-15-9.
Informed consent statement: Written informed consent was obtained from the patient for publication of this report and the accompanying images.
Conflict-of-interest statement: All authors declare no relevant conflicts of interest.
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: Wan-Li Gao, BMed, Professor, Department of Obstetrics and Gynecology, Beijing Tiantan Hospital, Capital Medical University, No. 119 South Fourth Ring West Road, Fengtai District, Beijing 100070, China. gaolisa2004@mail.ccmu.edu.cn
Received: May 24, 2023
Peer-review started: May 24, 2023
First decision: June 15, 2023
Revised: June 24, 2023
Accepted: July 7, 2023
Article in press: July 7, 2023
Published online: July 26, 2023
Processing time: 63 Days and 20.9 Hours
Core Tip

Core Tip: Congenital lymphangiectasia is a rare disease characterized by an increased number of lymphatic vessels in the interstitium and cystic expansion of the lymphatic vessels. The genetic variations in proteins that control the development of lymphatic vessels are suggested as the pathophysiology of this disease. We analysed the case of a neonate who presented with only pleural effusion during late gestational age. However, the patient died after delivery because of the inability to establish spontaneous breathing. The autopsy indicated lymphangiectasia within systemic organs. Further, whole exome sequencing revealed rare heterozygous mutations in the lymphangiogenesis-controlling genes ADAMTS3 and FLT4.