A Case of Prenatally Diagnosed Klippel-Trenaunay-Weber Syndrome / 대한주산의학회잡지

ABSTRACT

Klippel-Trenaunay-Weber syndrome is a rare sporadically occurring congenital soft tissue anomaly characterized by cutaneous hemangiomata, hemihypertrophy and occasionally arteriovenous malformations(AVMs). No definite genetic defect has been identified. The appearance is a soft tissue mass of an extremity, usually affecting the adjacent trunk, hydrops fetalis, ascites, abdominal hemangiomatous masses, and hepatomegaly. When diagnosed prenatally, the disorder may be severe. Thrombocytopenia due to platelet consumption within the hemangioma and high output cardiac failure may complicate the outcome. Termination of pregnancy can be offered in severe forms, otherwise no alteration of management in expected. The management of newborns is primarily nonoperative, but some may benefit from surgical intervention. We report a case of Klippel-Trenaunay-Weber syndrome diagnosed prenatally by ultrasonogram in the second trimester and subsequently was terminated, with a brief review of literature.