Fasoulakis Zacharias, Chatziioannou Marianna, Koutras Antonios, Theodora Marianna, Pegkou Afroditi, Pampanos Andreas, Daskalakis George, Antsaklis Panagiotis
1st Department of Obstetrics and Gynecology, National and Kapodistrian University of Athens, Athens, Greece.
Department of Genetics, "General Hospital Alexandra", Athens, Greece.
Case Rep Perinat Med. 2023 Sep 7;12(1):20230013. doi: 10.1515/crpm-2023-0013. eCollection 2023 Jan.
Milroy syndrome is a rare hereditary disorder characterized by congenital lymphedema, caused by mutations in the vascular endothelial growth factor receptor 3 () gene.
We present a case report of a first-described mutation of a male fetus diagnosed prenatally with Milroy syndrome through amniocentesis. The fetus had bilateral lower limb edema, and genetic testing confirmed the diagnosis of Milroy syndrome. The patient was closely monitored throughout the pregnancy, and after delivery, the infant was managed with appropriate therapies, including compression garments and manual lymphatic drainage. The parents were provided with appropriate counseling and support.
This case highlights the significance of early detection and appropriate management of Milroy syndrome, which can lead to improved outcomes for affected infants.
米尔罗伊综合征是一种罕见的遗传性疾病，其特征为先天性淋巴水肿，由血管内皮生长因子受体3（）基因突变引起。
我们报告一例通过羊膜穿刺术产前诊断为米尔罗伊综合征的男性胎儿首次发现的突变病例。该胎儿双侧下肢水肿，基因检测确诊为米尔罗伊综合征。整个孕期对该患者进行了密切监测，分娩后，对婴儿进行了包括压力衣和手动淋巴引流在内的适当治疗。为父母提供了适当的咨询和支持。
本病例突出了早期发现和适当管理米尔罗伊综合征的重要性，这可改善受影响婴儿的预后。
