Klippel-Trenaunay-Weber Syndrome – A case report and review of the literature
Archive of Clinical Cases(2014)
摘要
Klippel-Trenaunay-Weber syndrome (KTW syndrome), also known as congenital dysplastic angiopathy or angioosteohypertrophy syndrome, is a rare, sporadic, complex malformation that involves congenital malformations of veins, capillaries, and/or lymphatics, which leads to soft tissue hypertrophy and port-wine stains. We report a case of a 37 year old woman with congenital Klippel Trenaunay Weber syndrome. She had many vascular abnormalities from birth which increased in time such that she had many surgical interventions. These abnormalities of veins and capillaries were leading to hypertrophy of the extremities – finger macrosomia. She had orthopedic comorbidities like Chopart amputation of the anterior part of her left foot and dorsal kyphoscoliosis because of the external scars. Studying similar cases from the literature, we found that Klippel-Trenaunay-Weber syndrome could be associated with brain abnormalities. We admitted the patient for additional investigations because some of these patients could have cerebral malformations in the absence of neurologic abnormalities. We considered at that time that it was necessary to look for any unknown vascular abnormality. Management of this syndrome should aim to correct any of the abnormalities present, if technically possible, and if the abnormality is causing symptoms.
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关键词
syndrome,klippel-trenaunay-weber
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