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NR 10-12/2006
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Zespół
Klippela-Trenaunaya-Parkesa-Webera jako przykład genetycznego
zaburzenia angiogenezy
The
Klippel-Trenaunay-Parkes-Weber syndrome as an example of genetic
disorder of angiogenesis
Heinrich Holak1, Sophie Holak2,
Ulrich Loel3, Bernd Kazimierczak4, Nikolai
Holak1
1 Z Kliniki Okulistycznej w Centrum Medycznym im.
Rudolfa Virchowa w Salzgitter
Kierownik: dr n. med. Heinrich Holak
2 Z Kliniki Okulistycznej w Schlossparkklinik w
Berlinie
Kierownik: dr n. med. Christoph Niederstadt
3 Z Neurologii w Centrum Medycznym im. Rudolfa
Virchowa w Salzgitter
Kierownik: dr n. med. Ulrich Loel
4 Z Pracowni Genetyki w Centralnym Szpitalu w Bremie
Kierownicy: dr hab n. med. Bernd Kazimierczak i dr n. med.
Stephanie Spranger |
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| Summary: |
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. |
| Słowa kluczowe: |
Zespół
Klippel-Trenaunay-Parkesa-Webera, nadtwardówkowa
anastomoza tętniczo-żylna. |
| Key words: |
Klippel-Trenaunay-
Parkes-Weber syndrome, episcleral arterial-venous
malformation. |
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