Klippel–Trénaunay–Weber syndrome

The Klippel- Trenaunay -Weber syndrome - Syn: angiektatischer gigantism, angio - osteohypertrophisches syndrome - is an innate, sporadically occurring malformation syndrome of the vessels, which by a large port-wine stain, lymphangiomas and localized ( partial) gigantism (in rare cases also short stature ) is defined. So far, more than 1000 case studies were described.

The gigantism often affects only one limb or part thereof and is manifested in a skeletal and Weichteilhypertrophie, rare atrophy, varicose venectasias, but also a hypo-or aplasia of lower limb veins.

Are in the affected limbs (parts) arteriovenous fistula ( shunt ) to prove is spoken by the Parkes -Weber syndrome as a special form of angiektatischen gigantism.

Sometimes the Klippel Trenaunay - Weber syndrome is diagnosed as angiodysplasia of predominantly venous - cavernous type with hypertrophy of the affected limb.

This syndrome was named after

• Maurice Klippel (1858-1942), French neurologist
• Paul Trenaunay (1875 - ), French neurologist
• Frederick Parkes Weber (1863-1962), English physician

Diagnosis

To see the full extent of the malformation of the vessels, all the vessels need to be investigated. Therefore, the total diagnostics consists of the following tests.

• Arteries: ultrasound, angiography, pressure measurement
• Veins: ultrasound, venography, Lichtreflexrheographie, Verschlussplethysmographie
• Lymphatics: Lymphszintzigraphie, direct lymphography
• Soft tissue / bone: computed tomography, magnetic resonance imaging, x-ray

What tests should be performed when, is to decide individually. The ideal age at which a complete diagnosis should be carried out is therefore not certain set. Angiography or venography is onerous for smaller children and can only be performed under general anesthesia. In young children with visible angiomas or vascular dilation or differences of the extremities lengths and circumferences greater surgically correctable changes should be excluded by ultrasonography and magnetic resonance imaging. Such changes are found but rarely. In most children, the clinical picture until later in is completely dar. If those affected are not impaired in everyday life, can wait for another diagnosis to the preschool age.

The beginning of the pubertal growth spurt is another time that is convenient for a diagnosis in the individual case. Especially with disorders of growth in length of the legs associated with a pelvic tilt and curvature of the spine, the diagnosis should be pursued at this age.