Efficacy of sirolimus in Klippel-Trenaunay syndrome.

Abstract

Klippel-Trenaunay syndrome (KTS) is a rare congenital vascular malformation involving capillary, venous, and lymphatic anomalies with limb hypertrophy. Management has traditionally been palliative. Sirolimus, an mTOR inhibitor, offers new therapeutic perspectives. We report the case of a 5-month-old female infant with KTS who presented with a large angiomatous lesion of the right lower limb, complicated by recurrent bleeding, anemia, elevated D-dimer, and coagulopathy whose condition improved with sirolimus.