Case Report: Klippel-Trenaunay Syndrome - Recurrent Venous Thromboembolism and Vascular Malformation

Abstract

Klippel-Trenaunay Syndrome (KTS) is a rare genetic vascular disorder characterized by a limb affected by varicose veins, port wine stains, and hypertrophy of bone and soft tissue. It can also present with vascular malformations in the gastrointestinal tract, liver, spleen, genitourinary tract, and heart. We present a 27-year-old case of KTS diagnosed in adulthood associated with recurrent venous thromboembolism and gastrointestinal bleeding.

Keywords: KTS; VTE; bleeding; vascular malformation.

Figure 1

Composite figure depicting hemihypertrophy of the right lower limb and mega varicose veins.

Figure 2

(A-D) The composite figure illustrates clinical and radiological findings, showing focal gigantism involving the left-hand middle finger phalanges and phalanges of the left big toe with their expansion and remodeling. (E) Axial susceptibility-weighted image showing right paraventricular cavernous venous malformation (black arrow) accompanied by an adjacent developmental venous anomaly (red arrow). (F) AP radiograph of the right foot exhibiting diffuse soft tissue hypertrophy with punctuate dystrophic calcifications (green arrows) that reveal slow flow venous malformation.

Figure 3

Composite figure illustrating: (A and B) Coronal T2 weighted-images with fat saturation showing severely dysplastic and ectatic subcutaneous vein (purple arrow) situated on the lateral aspect of the right leg, which is draining a complex circumferential network of subcutaneous varices and is associated with venostasis. Additionally, intramuscular ectatic deep veins with slow flow venous malformation seated in the proximal part of the deep posterior compartment (green arrow). (C) Axial contrast-enhanced T1 weighted image with fat saturation and (D) Axial T2 weighted-image demonstrate asymmetric hypertrophy of the right leg subcutaneous soft tissue and muscles as well comparing to the normal contralateral side. Furthermore, an intramuscular cavernous hemangioma (red arrow) is seen seated in the proximal part of the extensor digitorum muscle of the right calf. We can note a slow and delayed opacification of the large subcutaneous vein on the post-contrast image. Venostasis is demonstrated by a multilayer of spontaneous contrast (blue arrow).

Figure 4

Colonoscopy: A single (solitary) 16 mm ulcer in the mid rectum around 10 cm from anal verge. A hyperplastic polyp in the sigmoid colon around 4 mm in size.