Undiagnosed Case of Klippel-Trenaunnay Syndrome Presenting as Extensive Heterotrophic Ossification and Flexion Deformity of Right Lower Limb Requiring Amputation : A Case Report

Abstract

Klippel-Trenaunnay Syndrome is a rare disease characterized by a clinical triad of capillary malformation, soft tissue and bony hypertrophy, and atypical varicosity. This syndrome ranges from asymptomatic disease to life-threatening bleeding, embolism, and deformities. Management includes early diagnosis, prevention, and treatment of complications. We present a case of a 43-year-old male presenting with pain, swelling and deformity of the right leg for 30 years. On examination, diffusely enlarged tender right limb with several dark patchy discolorations, multiple tortuous vessels were found. Right leg X-ray showed heterotrophic ossification and distortion of ankle joint. Due to chronic severe pain, recurrent infection, contracture and flexion deformity of right leg, the patient underwent above knee amputation. This case focuses on the variable presentation and multiple problems faced by patients with Klippel-Trenaununay Syndrome as they get diagnosed late and shows the importance of high index of suspicion for early diagnosis and prevention of complications.