Exploring Klippel-Trenaunay syndrome: clinical case series and a review of diagnostic imaging

Background. Klippel-Trenaunay syndrome (KTS) is a rare congenital vascular disorder characterized by the triad of capillary malformations, venous anomalies, and limb hypertrophy. It most commonly affects the lower limbs and presents with varied clinical severity, often necessitating multimodal imaging and multidisciplinary care. This case series aims to highlight the imaging features and clinical complexity of KTS through three distinct patient presentations. Case presentation. Three patients with confirmed KTS were evaluated. The first, a 16-year-old male, presented with progressive swelling and heaviness in the left lower limb since birth. CT and MR venography revealed soft tissue hypertrophy, deep venous hypoplasia, and anomalous venous drainage into the contralateral femoral vein. The second case involved a 32-year-old female with a chronic foot ulcer, right limb hypertrophy, and arteriovenous shunting demonstrated on imaging. CT angiography showed abnormal communications between the internal iliac artery and superficial femoral vein, with multiple varicosities and a limb length discrepancy. The third patient, a 31-year-old male, presented with long-standing swelling in the right leg. Imaging demonstrated extensive tortuous, multilobulated venous malformations with partial thrombosis, subcutaneous and intermuscular involvement, and localized gigantism. All patients were managed conserva­tively with compression therapy and wound care, and were evaluated for interventional planning as needed. Conclusion. KTS presents with diverse clinical and radiologic features, making diagnosis and management challenging. This case series emphasizes the vital role of multimodal imaging in diagnosis and preoperative planning. Conservative management remains the cornerstone of care, though targeted therapies and image-guided interventions are emerging as promising advances. Early recognition, individualized treatment, and longitudinal follow-up are key to improving quality of life and reducing complications in patients with Klippel-Trenaunay syndrome.