Lethal Outcomes in Klippel-Trenaunay Syndrome

Abstract

Klippel-Trenaunay syndrome (KTS) is an uncommon congenital angiodysplasia that manifests in infancy and is characterized by venous and lymphatic malformations of the skin, soft tissue, and bone causing limb hypertrophy. We report 2 patients with long-term KTS who developed lethal complications from uncommon and unusual manifestations. The 1st patient was a female with KTS who at 2 years of age underwent a below-the-knee amputation for a massively hypertrophied and malformed left foot. Two years later she required additional surgical removal of vascular malformations involving her left calf with extension to the groin, pubis, and ipsilateral abdomen. Fifteen years later she underwent splenectomy (400 g) revealing multifocal, cystically dilated vascular channels distorting the splenic architecture and died suddenly of massive intra-abdominal hemorrhage on the 2nd postoperative day. The 2nd patient was a 72-year-old male with long-standing KTS who presented with debilitating chronic penile and scrotal edema. Surgical excision of his lymphedematous scrotal and penile skin revealed a low-grade angiosarcoma arising in the setting of chronic lymphedema. The patient died shortly after surgery from massive hemorrhage due to traumatic rupture of malformed leg vessels. KTS may lead to significant morbidity and mortality, and pathologic consequences from long-term KTS have been rarely reported. These cases illustrate the risk of lethal hemorrhage, organomegaly from protracted vascular malformation, and development of vascular neoplasia associated with chronic lymphedema in KTS.