EP07.05: A fetus with isolated unilateral lower limb hypertrophy: a case report

Abstract

An isolated unilateral soft tissue hypertrophy is a rare finding. The Klippel–Trenaunay–Weber syndrome (KTW), also known as angioosteohypertrophy syndrome, is a complex developmental disorder with sporadic occurrence, characterised by the triad of multiple hemangiomas, arteriovenous fistulas and unilateral limb hypertrophy. This rare syndrome which affects 1 in 100000 people worldwide, has been previously described in the prenatal period by ultrasonography, and in literature there are quite different variation in the presentation of cases. We describe a case suggestive of a KTW syndrome by prenatal ultrasonography. Differential diagnoses include Parkes Weber, and capillary malformation-arteriovenous malformation syndrome (CM-AVM). A 22 year old low-risk G1P0 was referred to the fetal medicine unit with severe soft-tissue hypertrophy of the right lower limb up to the ankle after routine anomaly scan ay 20+6 weeks gestation. The finding was confirmed, however the long bone of the affected leg appeared normal and has normal length. There were no evidence of vascular findings on the Doppler. The right foot looked normal. There were no other apparent structural anomalies or markers of aneuploidy. She was referred to the geneticist and the surgeon for counselling, however she declined to attend and opted for MTOP. The post mortem confirmed the finding along with other additional features including, cardiomegaly with pericardial effusion, hemangioma/vascular malformation (thin-walled large ectatic vessels containing blood and thrombi). The GLUT1 (erythrocyte-type glucose transporter protein 1) test was negative. GLUT1 is typically expressed in cutaneous proliferating hemangioma. Immunostaining for GLUT1 is becoming valuable for predicting the outcome of vascular skin tumours. KTW and other rare congenital vascular anomalies condition should be considered in the differential diagnosis of a unilateral soft tissue hypertrophy even if colour flow Doppler study is negative.