The role of radiology in the planning management of Klippel Trenaunay Syndrome (KTS)

Congenital Limb Overgrowth Syndromes Associated with Vascular Anomalies

“…This syndrome can also have components of microcystic, macrocystic, or mixed lymphatic malformations. The classic triad of malformations seen in KTS consists of port wine stain (capillary malformation), underlying low-flow vascular mal-formations (venous and/or lymphatic malformations), and bone and/or soft-tissue limb hypertrophy of the affected extremity (Fig 3a) (36,(41)(42)(43). A phenotypic diagnosis of KTS requires the presence of only two of these three cardinal features, although most patients have all three of them (44).…”

“…Servelle-Martorell syndrome (angio-osteohypotrophic syndrome) is a rare congenital vascular anomaly that is often included in the differential radiography of the affected and contralateral limbs can be the first screening examination performed to document osseous hypertrophy for determination of true limb length discrepancy (41,47). Contrast-enhanced MRI and/or MR angiography is a reference-standard examination for evaluating the underlying low-flow malformation and extent of disease (Fig 3b-3f).…”

Complicated Total Knee Arthroplasty in a Patient with Klippel-Trenaunay-Weber Syndrome

“…Klippel-Trenaunay-Weber syndrome (KTWS) is a rare congenital vascular disease associated with soft-tissue and osseous hypertrophy, cutaneous hemangiomas, and vascular malformations involving the lymphatic, venous, and arterial vessels 1–11 . Commonly used diagnostic criteria include varicose veins, cutaneous hemangiomas, and hypertrophy of soft tissue and bone 1–4,6–10 .…”

“…Commonly used diagnostic criteria include varicose veins, cutaneous hemangiomas, and hypertrophy of soft tissue and bone 1–4,6–10 . At least 2 of these features must be present for the diagnosis of KTWS 1 . Our patient met all 3 of these criteria.…”

“…Our patient met all 3 of these criteria. KTWS most often presents at birth or in early childhood, and affects the lower extremities in approximately 95% of patients 1,3 . Limb hypertrophy generally develops unilaterally but can manifest bilaterally 4,5 .…”