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Images of Memorable Cases: Case 150

Module by: Herbert L. Fred, MD, Hendrik A. van Dijk

Case_150-pres1-1.jpg1

Case_150-pres1-2.jpg2 Case_150-pres1-3.jpg3

Case_150-pres1-4.jpg4 Case_150-pres1-5.jpg5

This 42-year-old woman was asymptomatic except for lymphedema in both lower legs.

150. Klippel-Trenaunay syndrome

A rare, sporadic, congenital vascular disorder of unknown cause characterized by the triad of overgrowth and hypertrophy of soft tissues and bones (images 1-4), hemangiomas (usually of the port wine type [image 1]), and varicose veins — all on the same side. All three elements, however, are not invariably present and are not necessarily proportionate in severity or extent. These abnormalities may be localized to one extremity or affect as much as an entire half of the body. When the involved tissues contain hemodynamically significant arteriovenous communications, the condition is called the Klippel-Trenaunay-Weber syndrome.

In most cases, the hemangiomas are evident at birth or shortly thereafter, while the soft tissue and bony changes become more apparent after several years. Varicosities are not usually detected until the child spends more time upright.

Associated findings may include digital anomalies, hemangioma-related urinary and rectal bleeding, and various lymphatic disturbances, especially lymphedema (image 5).

Prognosis is good, and treatment is mainly symptomatic.

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