A Case of Klippel-Trenaunay Syndrome Combinded with Sturge-Weber Syndrome

Klippel-Trenaunay 증후군과 Sturge-Weber 증후군이 동반된 1례

Klippel-Trenaunay syndrome is a rare mesodermal phakomatosis characterized by cutaneous haemangiomata( usually unilateral and involving an extremity), venous varicosities and osseous and soft tissue hypertrophy, of the affected limb. Sturge-Weber syndrome, also a mesodermal pharkomatosis, is characterized by a port-wine nevus, which is present from birth and covers the face and cranium in the territory of the first division of the trigeminal nerve. Homolateral to the skin lesion, there is atrophy and calcification of the cerebral hemisphere. We experienced an unusual 26-months-old female, who had features of both Klippel-Trenaunay syndrome and Sturge-Weber syndrome. She had an extensive nevus flammeus which extended primarily over both sides of her face and the right side of the trunk and extremities, hypertrophy of the right extremity without evidence of arterovenous fistula, right glaucoma, choroidal hemangioma and leptomeningeal hemangioma, which combined Klippel-Trenaunay syndrome and Sturge-Weber syndrome. We reported this rare case with a brief review of some related literatures.

저자들은 26개월된 여아에서 양측 안면과 우측 상, 하지에 화염상모반증, 골조직 및 연부조직의 이상 비대 소견을 보이면서 우안의 녹내장 및 맥락막 혈관종, 연수막 혈관종, 전신성 경련, 발달지연을 동반한 Klippel-Trenaunay 증후군과 Sturge-Weber 증후군의 특성이 동시에 관찰된 드문 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.