Zespół Klippela-Trenaunaya-Parkesa-Webera jako przykład genetycznego zaburzenia angiogenezy

Purpose
To report on the congenital vascular malformation syndrome, Klippel-Trenaunay-Parkes-Weber (KTPW), which has recently been the focus of research on angiogenesis.

Material and methods
A case report which includes a fluorescein angiography, cerebral MRI, the investigation of parameters for congenital disorders of blood coagulation, structural and numerical analyses of chromosomes.

Results
All three typical symptoms of KTPW were found. An old cerebral insult in the thalamus with vascular encephalopathy was established with MRI. The direction of the venous drainage in the fusiform arterial-venous malformation of conjunctiva in the right eye has been changed during the observation. Dilated retinal veins were observed in the fluorescein angiography of the right eye. Structural changes in karyograms were also seen

Conclusions
The congenital arterial-venous malformation in conjunctiva has been changed through venous thrombosis during our long observation. Anticoagulation therapy or surgical therapy of pathologic veins in childhood, should be recommended.