Klippel-Trénaunay-Weber syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.2 | Congenital malformation syndromes with predominant
Involvement of the extremities |
| ICD-10 online (WHO version 2019) | |
The Klippel-Trenaunay-Weber syndrome or Klippel-Trenaunay syndrome - Syn .: angiektatischer gigantism , angio-osteohypertrophisches syndrome - is an innate, sporadically occurring to the overgrowth syndromes belonging malformation syndrome of vessels passing through a port-wine stain , lymphangioma and locally limited (partial) gigantism (in rare cases also short stature) and venectasia is defined. So far, more than 3000 case studies have been described.
The giant growth often affects only one extremity or part of it and manifests itself in a skeletal and soft tissue hypertrophy , less often - atrophy , through venectasia , but also hypo- or aplasia of deep extremity veins .
If haemodynamically effective arteriovenous fistulas (shunts) can be detected in the area of the affected limbs (parts of the limbs ), Parkes-Weber syndrome is referred to as a special form of angiectatic giant growth.
Sometimes Klippel-Trénaunay syndrome is also diagnosed as angiodysplasia of the predominantly venous type with hypertrophy of the affected extremity .
This syndrome was named after the following doctors who first described it in 1900 and 1907:
- Maurice Klippel (1858–1942), French neurologist
- Paul Trénaunay (1875–1938), French neurologist
- Frederick Parkes Weber (1863–1962), English physician
diagnosis
In order to determine the full extent of the malformation of the vessels and thus to be able to determine the treatment options, all vessels must be examined. Therefore, the overall diagnosis consists of the following examinations.
- Arteries: ultrasound (color-coded duplex examination), arteriography , pressure measurement
- Veins: ultrasound (color-coded duplex examination) , venography , if necessary Varicographie
- Lymph vessels: lymph scintigraphy, direct MR lymphography
- Soft tissues, bones: computed tomography , magnetic resonance imaging , native x-ray
Which examination should be carried out and when must be decided individually. The ideal age at which a full diagnosis should be carried out must be made dependent on the clinical manifestations occurring in the course of development. Regular, close-knit check-ups with vascular specialists (angiologists, vascular surgeons) are therefore essential. Arteriography or venography is stressful for smaller children and can only be performed under anesthesia. In small children with a visible nevus or vasodilatation or differences in limb lengths and circumferences, major surgically correctable changes should be detected or excluded at an early stage using sonography and magnetic resonance imaging (under anesthesia). Such changes are rarely found. If there is a significant difference in length of the legs, it must be clarified from the age of three whether vascular surgery measures can compensate for the difference in length during further growth. In most children, the clinical picture only emerges in the further course.
The beginning of the pubertal growth spurt is another point in time that should be used diagnostically in individual cases. Especially in the case of disorders of the growth in length of the legs, which can be accompanied by a pelvic inclination and a curvature of the spine, diagnostics should not be advanced at this age, but rather early.
The Parkes-Weber syndrome are considered must completely separate from Klippel-Trénaunay syndrome because its manifestations are different and completely different therapeutic measures.
Web links
- Federal Association of Congenital Vascular Malformations eV
- Brief description and pictures on DermiS.net
- Orpha.net
- Information page of the Klippel Trenaunay (KT) Support Group (English)
- English description of the syndrome
- Entry in whonamedit.com (English)
