RESUMO
INTRODUCTION: Klippel-Trenaunay syndrome is a rare congenital mesodermal abnormality characterized by bone and soft tissue hypertrophy, extensive hemangioma and venous abnormalities. We report the case of a patient with two additional rare clinical manifestations in the background of Klippel-Trenaunay syndrome, namely, acanthocytosis and splenic and retroperitoneal lymphangioma. CASE PRESENTATION: A 24-year-old Sri Lankan man from North Central Province in Sri Lanka presented to our general medical unit with symptomatic anaemia. He had been diagnosed with Klippel-Trenaunay syndrome at the age of six years, with hemihypertrophy of his right lower limb and strawberry naevi over both lower limbs. His blood film results were positive for acanthocytes, which accounted for more than 20% of the red blood cell population. He was also found to have extensive splenic lymphangiomas and a large retroperitoneal lymphangioma encasing the mesentric vessels in the right para-aortic region. An extensive battery of tests to identify a secondary cause for the acanthocytosis failed to show any positive results. CONCLUSIONS: Retroperitoneal lymphangioma has been reported in association with Klippel-Trenaunay syndrome once before, but an association with acanthocytosis has never been reported. Given the rarity of all three conditions this is not surprising. The cause of acanthocytosis in this setting is currently unresolved. It is plausible that this may be a primary association with Klippel-Trenaunay syndrome, as an alternative aetiology was not found.