A 9-month-old male infant with an enlarged left lower limb associated with port-wine stain over the left leg and buttock was diagnosed as Klippel-Trenaunay syndrome (KTS). He presented with progressive weakness in the lower limbs, evolving to paraplegia. Imaging studies showed arteriovenous malformation in the scrotum and high-flow fistulas in the left lower limb and spine, with ectatic veins and venous aneurysm compressing the spinal cord as shown in Figure 1. These imaging findings were consistent with Parkes-Weber syndrome (PWS), distinct from KTS [1]. KTS features consist of port-wine stain (capillary malformations) and varicose veins, associated with soft tissue and bone hypertrophy affecting lower limb in 95% of the cases; in addition, KTS is usually associated with low-flow lesions secondary to mutation of the AGGF1 gene, with relatively good prognosis[1–3]. In contrast, PWS results from mutations in RASA1 gene, which produces high-flow arteriovenous fistulas
with consequent worse prognosis than KTS [3, 4]. Whereas only KTS is associated with limb hypertrophy, similar
features of cutaneous stain may be found in several vascular anomalies, including KTS, Cobb syndrome, SturgeWeber syndrome, and capillary malformation-arteriovenous malformation [2].
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