Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Dec 16, 2021; 9(35): 10994-10998
Published online Dec 16, 2021. doi: 10.12998/wjcc.v9.i35.10994
Prenatal ultrasonographic findings in Klippel-Trenaunay syndrome: A case report
Hou-Qing Pang, Qian-Qian Gao
Hou-Qing Pang, Qian-Qian Gao, Department of Ultrasound, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
Hou-Qing Pang, Qian-Qian Gao, Key Laboratory of Obstetric & Gynecological and Pediatric Diseases and Birth Defects of Ministry of Education, Sichuan University, Chengdu 610041, Sichuan Province, China
Author contributions: Pang HQ carried out the studies, collected data and drafted the manuscript; Gao QQ and Pang HQ participated in acquisition, analysis, or interpretation of data and revised the manuscript; all authors read and approved the final manuscript.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict 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: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Qian-Qian Gao, MD, Associate Professor, Department of Ultrasound, West China Second University Hospital, Sichuan University, No. 20 Third Section, South Renmin Road, Chengdu 610041, Sichuan Province, China. gym471689@126.com
Received: April 28, 2021
Peer-review started: April 28, 2021
First decision: May 23, 2021
Revised: May 29, 2021
Accepted: July 6, 2021
Article in press: July 6, 2021
Published online: December 16, 2021
Processing time: 225 Days and 17.3 Hours
Abstract
BACKGROUND

Klippel-Trenaunay syndrome (KTS) is a rare congenital disorder. A detailed prenatal ultrasound examination plays an important role in the diagnosis of KTS and the subsequent counseling and follow-up of the patient.

CASE SUMMARY

A 25-year-old woman attended our department for a regular examination. The whole of the right lower extremity and right buttock were observed to be markedly thicker compared to the left one at 18 wk of gestation. However, the lengths of the right femur, tibia and fibula were in the normal range. No marked edema and fluid/cystic spaces were detected in the lower limbs. There were no other organ abnormalities. The vasculature in the right limb was visibly dilated, with much higher intensive blood flow signals. No congenital embryonic veins were visible in both limbs. The right lower limb exhibited much more hypertrophy compared to the left limb two weeks later. Amniocentesis and genetic tests showed normal results with 46 XX. Despite the normal karyotype, the family opted to terminate the pregnancy. The post-mortem examination confirmed asymmetric hypertrophy of the right limb in the fetus and revealed a large area of marked dark-purple superficial capillary malformations occupying the skin of the right lower extremity. The enlargement of veins and soft tissue hypertrophy were also seen on postnatal X-ray and Magnetic Resonance Imaging. Autopsy revealed severe congestion in the right lower limb. A final diagnosis of KTS was made.

CONCLUSION

KTS may be diagnosed prenatally based on the typical features observed during ultrasound examination.

Keywords: Klippel-Trenaunay syndrome, Prenatal diagnosis, Ultrasonography, Case report

Core Tip: Klippel–Trenaunay syndrome (KTS) is a rare congenital disorder. The prenatal ultrasound features include hypertrophy of one extremity, a difference between the length of the bones of the extremities, multiple cystic lesions of the extremities or internal organs, increasing blood flow signals and dilated veins or persistence of the embryonic veins. KTS may be diagnosed based on these typical characteristics in utero.