Klippel-Trenaunay Syndrome

  • Etiology: Angio-osteo-hypertrophic syndrome
  • Imaging Radiograph: Bone elongation of the affected extremity resulting in leg length discrepancy
  • Imaging MRI: Venolymphatic malformation extending into muscular compartments and pelvis best seen on T2WI
  • Imaging MRA: Lower extremity superficial varicose drainage without deep venous system
  • DDX: Parkes Weber syndrome, Beckwith-Wiedemann syndrome, Proteus syndrome, Maffucci syndrome, neurofibromatosis type 1
  • Complications:
    — Bleeding from gastrointestinal and genitourinary systems if there is visceral involvement
    — Venous thromboembolism
    — Thrombophlebitis
    — Kasabach-Merritt syndrome if capillary malformations are large enough
  • Treatment: Conservative if possible, sclerotherapy and surgery in some
  • Clinical:
    — Clinical triad is varicose veins or venous malformations and cutaneous capillary malformations (port wine nevi) and limb overgrowth of an extremity,
    — Usually unilateral
    — 95% of time affects lower extremity

Radiology Cases of Klippel-Trenaunay Syndrome

Radiograph and MRI and MRI of Klippel-Trenaunay Syndrome
AP radiograph of the lower extremity (above left) shows the soft tissues of the right lower extremity are markedly enlarged when compared to the left lower extremity. MR angiogram of the bilateral lower extremities (above right) shows the arterial supply to the left thigh to be unremarkable while the arterial supply to the right thigh appears to be more prominent in appearance and there is filling of superficial varicose veins in the right thigh. There was no deep venous system in the right thigh. Axial T1 MRI without contrast of the thighs (below) shows the heterogenous appearance of the subcutaneous tissue and muscle in the right thigh when compared to the left thigh.