All issues > Volume 46(9); 2003

Case Report

J Korean Pediatr Soc. 2003;46(9):909-912. Published online September 15, 2003.

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

Mi Young MY Kim¹, So Young SY Lee¹, Na Yeon NY Kim¹, Sun Ju SJ Lee¹, Won Duck WD Kim¹, Sung Min SM Cho¹, Dong Seok DS Lee¹, Doo Kwun DK Kim¹, Sung Min SM Choi¹

¹Department of Pediatrics, College of Medicine, Dongguk University, Kyongju, Korea

Correspondence Mi Young MY Kim ,Email: just2my@hanmail.net

Abstract

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.

Keywords :Klippel-Trenaunay syndrome, Sturge-Weber syndrome