Klippel-Trenaunay-Weber syndrome: appearance in utero.

Abstract

We were able to detect hemihypertrophy of a fetus in a routine prenatal ultrasound examination. The presence of hemangiomas and varicose veins in the hypertrophied left lower extremity at birth enabled us to diagnose the Klippel-Trenaunay-Weber syndrome. The possibility of a congenital arteriovenous fistula causing the constellation of findings was ruled out by a nuclear flow study and a thorough physical examination. A computerized tomographic scan revealed that the hemangiomas were superficial in the hypertrophied left lower extremity and did not interrupt the deep muscle bundles.

Prenatal sonographic appearances of Klippel-Trenaunay-Weber syndrome

“…There are several reports of the prenatal sonographic findings, first described in 1981 with the cutaneous haemangiomata appearing sonographically as multiple echolucent areas (Hatjis et al, 1981). In 1983, a second prenatal case was described reporting hemihypertrophy of a lower extremity (Warhit et al, 1983). There have been scattered case reports of the prenatal sonographic appearances of Klippel-Trenaunay-Weber syndrome subsequently (Shalev et al, 1988;Seoud et al, 1984;Lewis et al, 1986;Meholic et al, 1991;Yankowitz et al, 1994;Jorgenson et al, 1994), with variable fetal and neonatal outcomes.…”

Klippel-Trenaunay-Weber Syndrome Complicated by Extrafetal Umbilical Vein Varix

“…Since that time, 140 to 200 cases have been reported, the majority of which were diagnosed after birth. 2,4 We found only 7 articles in the literature diagnosing the syndrome antenatally. Meholic et al 5 found that the sonographic diagnosis depends on cutaneous or subcutaneous sonolucent lesions and limb hypertrophy.…”

Sonographic Appearance of Klippel-Trénaunay-Weber Syndrome Diagnosed at 18 Weeks Gestation

“…KTW can affect any part of the fetal anatomy but most often is identified on the torso, buttocks, or lower extremity. 1 Typical presentation of KTW is asymmetric limb hypertrophy usually involving a leg. 2 There is increased arterial flow to the affected area that may be confirmed with color flow Doppler.…”