Musculoskeletal Imaging

Klippel - trenaunay - weber syndrome

(Maurice Klippel, 1858 - 1942, French neurologist, Paul Trenaunay, 20th century, French physician and Fredrick Parkes Weber, 1863 - 1962, English physician), the association of a clinical triad consisting of cutaneous haemangiomas, varicose veins and hypertrophy of bones and soft tissue (Fig.1) (Fig.2). Some authorities suggest that two separate syndromes exist: one without arteriovenous malformations (Klippel - Trenaunay syndrome) and one with such malformations (Parke -  Weber syndrome).

Although the cause is unknown, many investigators believe the Klippel-Trenaunay-Weber syndrome results from a disturbance in embryogenesis, probably in the third to sixth week of gestation. The bone and soft tissue abnormalities (localized gigantism) occur in the same region as the vascular malformations. Usually only one lower limb is involved in the disease. The varicose veins become evident when the child begins to walk. Sometimes phleboliths are present.

Coexisting changes of Kasabach Merritt syndrome or Sturge Weber syndrome may also be present in some patients. Joint findings resemble those of haemophilia. In addition, the radiographic features are indistinguishable from those of macrodystrophia lipomatosa. Other changes may include hypertrophy of the pelvis and viscera, lymphatic malformations and facial involvement. Progressive worsening of symptoms with shortened life is common.

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Fig.1

a. AP radiograph of the lower leg demonstrates massive prominence of the soft tissues. b. Lateral radiograph of the foot shows enormous soft tissue swelling and deformity of the foot. c. AP radiograph of the contralateral foot in the same patient reveals hypertrophy of the bones and soft tissues in the forefoot.
Klippel - trenaunay - weber syndrome, Fig.1 (a)
Klippel - trenaunay - weber syndrome, Fig.1 (b)
Klippel - trenaunay - weber syndrome, Fig.1 (c)
Klippel - trenaunay - weber syndrome, Fig.2 (a)
Klippel - trenaunay - weber syndrome, Fig.2 (b)