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克-特综合征的产前超声诊断

Prenatal Ultrasound Diagnosis of Klippel-Trenaunay Syndrome.

作者信息

Gică Nicolae, Dumitru Andreea, Panaitescu Anca Maria, Gică Corina, Peltecu Gheorghe, Ciobanu Anca Marina, Bălănescu Laura

机构信息

Obstetrics and Gynecology Department, Faculty of Medicine, "Carol Davila" University of Medicine and Pharmacy, 020021 Bucharest, Romania.

Department of Obstetrics and Gynecology, Filantropia Clinical Hospital Bucharest, 020021 Bucharest, Romania.

出版信息

Diagnostics (Basel). 2023 Nov 8;13(22):3400. doi: 10.3390/diagnostics13223400.

Abstract

Klippel-Trenaunay syndrome (KTS) is a very rare vascular malformation syndrome also referred to as a capillary-lymphatic-venous malformation with unknown aetiology. The aim of our paper is to highlight interesting images, regarding a rare case of foetal Klippel-Trenaunay syndrome diagnosed prenatally in our department and confirmed postnatally with a favourable evolution during the gestation and neonatal periods. This case was diagnosed at 26 weeks gestation and characterised through ultrasound by the presence of superficial multiple cystic structures of different sizes spreading over the left leg with hemihypertrophy and reduced mobility. The cystic lesions were spreading to the left buttock and the pelvic area. The right leg and upper limbs had normal appearance with good mobility. There were no signs of hyperdynamic circulation or foetal anaemia, but mild polyhydramnios was associated. The ultrasound findings were confirmed postnatally, the left leg presented multiple cystic lesions and port wine stains, and there was hypertrophy and fixed position, with favourable evolution at 6 months of life, when the size of the lesions began to decrease and the mobility of the leg improved.

摘要

克-特综合征(KTS)是一种极为罕见的血管畸形综合征,也被称为毛细血管-淋巴管-静脉畸形,病因不明。本文的目的是展示有趣的影像,该病例为我院产前诊断的罕见胎儿克-特综合征,并在孕期和新生儿期经产后确认病情进展良好。该病例在孕26周时被诊断出来,超声检查显示左腿有多个大小不一的浅表囊性结构,伴有偏侧肥大和活动度降低。囊性病变蔓延至左臀部和盆腔区域。右腿和上肢外观正常,活动良好。没有高动力循环或胎儿贫血的迹象,但伴有轻度羊水过多。产后超声检查结果得到证实,左腿出现多个囊性病变和葡萄酒色斑,且有肥大和固定姿势,患儿6个月大时病情进展良好,病变大小开始减小,腿部活动度有所改善。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/34ba/10670238/db3efe00eaf0/diagnostics-13-03400-g001.jpg

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