Klippel-Trenaunay syndrome

Case contributed by Ali Hajihashemi

Presentation

Enlarged left leg from childhood, worsening since last week

Patient Data

Age: 30 years
Gender: Female
CT

Numerous tortuous and dilated superficial veins and multiple intramuscular dilated vessels in the left lower limb.

Filling defect in superficial veins of the anterolateral aspect of the lower half of the left calf and calcified foci in the lateral aspect of the left calf suggestive for acute and chronic thrombosis, respectively.

No evidence of AVM.

Normal arteries and deep veins.

Case Discussion

The patient has complained of left leg enlargement and blue skin color since childhood. Her leg became had become more enlarged and painful during last week.

On physical examination, localized gigantism (soft tissue hypertrophy of left lower limb) and also some type of port wine nevus were seen.

CT scan shows multiple tortuous and dilated superficial veins and intramuscular dilated vessels in the affected limb. Also, evidence of acute and chronic thrombosis was seen.

The presentation, physical examination and imaging findings are typical for Klippel-Trénaunay syndrome.

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