Klippel Trenaunay Syndrome

Excerpt

A 4-yr-old boy presented with right lower limb hypertrophy, bilateral foot deformity and difficulty in walking. There was no relevant past medical or family history. The child had no siblings. On examination the right lower limb was hypertrophied with bilateral divergent foot deformity. The affected limb was longer and larger in girth. The thigh and calf of the right limb were bulkier than the left one. Although the tibia was 3 mm longer in the affected limb but overall right lower limb was 2 cm longer depicting soft tissue hypertrophy. There was port wine stain (Fig. 1: Panel a black arrow) on the posterolateral aspect of the thigh extending till mid-calf. There were small dilated veins (Fig. 1: Panel a white arrow) seen on the lateral aspect of the calf. Ultrasonography of the lower limb was done to rule out any evidence of deep vein thrombosis. In the presence of these characteristic features the diagnosis of Klippel Trenaunay syndrome was established. It is a rare congenital vascular disorder with incidence of 1 in 100,000. Bilateral lower limb X-rays depicted right tibia (Fig. 1: Panel b) was longer than the left with divergence of metatarsal bones in both feet. Spine and rest of the systemic examination was normal. The child was managed with physiotherapy and gait training.

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