Prenatal diagnosis and management of Milroy syndrome: a case report

IF 0.1 Q4 OBSTETRICS & GYNECOLOGY

Case Reports in Perinatal Medicine Pub Date : 2023-01-01 DOI:10.1515/crpm-2023-0013

Z. Fasoulakis, M. Chatziioannou, Antonios Koutras, M. Theodora, Afroditi Pegkou, Andreas Pampanos, George Daskalakis, P. Antsaklis

引用次数: 0

Abstract

Abstract Objectives Milroy syndrome is a rare hereditary disorder characterized by congenital lymphedema, caused by mutations in the vascular endothelial growth factor receptor 3 (VEGFR3) gene. Case presentation 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. Conclusions This case highlights the significance of early detection and appropriate management of Milroy syndrome, which can lead to improved outcomes for affected infants.

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Milroy综合征的产前诊断与处理1例报告

摘要目的Milroy综合征是一种罕见的遗传性疾病，以先天性淋巴水肿为特征，由血管内皮生长因子受体3 (VEGFR3)基因突变引起。我们提出了一个病例报告的首次描述突变的男性胎儿诊断出产前与米尔罗伊综合征通过羊膜穿刺术。胎儿双侧下肢水肿，基因检测证实诊断为Milroy综合征。在整个怀孕期间对患者进行密切监测，分娩后，对婴儿进行适当的治疗，包括压缩服装和手动淋巴引流。为家长提供了适当的咨询和支持。结论本病例强调了早期发现和适当处理Milroy综合征的重要性，这可以改善患儿的预后。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Case Reports in Perinatal Medicine OBSTETRICS & GYNECOLOGY-

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发文量

期刊介绍： Case Reports in Perinatal Medicine is a double-blind peer-reviewed journal. The objective of the new journal is very similar to that of JPM. In addition to evidence-based studies, practitioners in clinical practice esteem especially exemplary reports of cases that reveal specific manifestations of diseases, its progress or its treatment. We consider case reports and series to be brief reports describing an isolated clinical case or a small number of cases. They may describe new or uncommon diagnoses, unusual outcomes or prognosis, new or infrequently used therapies and side effects of therapy not usually discovered in clinical trials. They represent the basic concept of experiences for studies on representative groups for further evidence-based research. The potential roles of case reports and case series are: Recognition and description of new diseases Detection of drug side effects (adverse or beneficial) Study of mechanisms of disease Medical education and audit Recognition of rare manifestations of disease.