P09.07: Prenatal diagnosis of Klippel Trenaunay syndrome: a case report

Abstract

Klippel Trenaunay syndrome is a rare congenital disease that is characterized by a triad of cutaneous capillary malformations, varicose veins and hypertrophy of bone and soft tissue, usually asymmetric in its presentation (a single extremity). This disease tends to be sporadic, with very few familiar occurrences and postulated to be related to a somatic mutation for a critical angiogenetic-vasculogenetic factor during embryonic development. The prenatal diagnosis of this syndrome has been scantly referred. We present the case of a 29 year old pregnant woman, with two previous normal pregnancies and babies, who came to our unit for a routine morphologic scan at 18.4 weeks. First trimester scan had not been performed. The fetus was structurally normal, with a choroid plexus cyst and single umbilical artery. The most striking findings were the presence of cystic and heterogenous images affecting both legs, from the gluteus to below the knee, with predominance of the left one. A significant asymmetry between both legs, specially in thickness, was seen. An additional cystic image was found below the left kidney. Angiopower color Doppler demonstrated increased vascularisation of the mass. Karyotype by amniocentesis shown to be normal 46XX. In view of all of these findings, with asymmetric limb hypertrophy and the presence of multiple hemangiomas, and arteriovenous fistulas, a very likely diagnosis of Klippel Trenaunay syndrome was suggested to the parents. After extensive counselling, parents opted for termination of pregnancy at 20.4 weeks. Pathological examination results confirmed the diagnosis.