Liang ZW, Gao WL. ADAMTS3 and FLT4 gene mutations result in congenital lymphangiectasia in newborns: A case report. World J Clin Cases 2023; 11(21): 5179-5186 [PMID: 37583869 DOI: 10.12998/wjcc.v11.i21.5179]
Corresponding Author of This Article
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
Research Domain of This Article
Obstetrics & Gynecology
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/
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 byThe 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
Abstract
BACKGROUND
Congenital lymphangiectasia is a rare disease characterized by dilated interstitial lymphatic vessels and cystic expansion of the lymphatic vessels. Congenital lymphangiectasia can affect various organ systems; however, it frequently occurs in the lungs accompanied with unexplained pleural effusion. Further, it might not be diagnosed during prenatal examination owing to the absence of pronounced abnormalities. However, after birth the newborn rapidly develops respiratory distress that quickly deteriorates. Genetic variations in proteins controlling the development of lymphatic vessels contribute to the pathophysiology of this disease. We report a rare case of heterozygous mutation of ADAMTS3 and FLT4 genes, which have not been reported previously.
CASE SUMMARY
We analysed the case of a neonate who had presented with only pleural effusion at a late gestational age and eventually died due to its inability to establish spontaneous breathing after birth. An autopsy revealed lymphangiectasia of the organ systems. Further, whole exome sequencing revealed heterozygous mutations of the lymphangiogenesis-controlling genes, ADAMTS3 and FLT4, and Sanger verification revealed similar lesions in the mother with no symptoms.
CONCLUSION
Considering the presented case, obstetricians should observe unexplained foetal pleural effusion, and perform pathology analysis and whole exome sequencing for a conclusive diagnosis and prompt treatment.
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.
