title: Incomplete expression of Klippel-Trenaunay syndrome.
abstract: Klippel-Trenaunay syndrome (KTS) is a rare, congenital vascular anomaly, defined as a triad including a port-wine stain, underlying bone and soft tissue hypertrophy and varicose veins and/or venous malformations.
  
  
  OBJECTIVE
  Our aim is to present the case of a 13-year-old girl with a delayed proper diagnosis of incomplete expression of KTS presenting with a port-wine stain of her left lower extremity associated with hypertrophy of the affected limb (upon the moment of diagnosis no varicose veins were observed). The patient did not experience any pain in the affected limb, nor was she diagnosed with neuropathy - both of above mentioned symptoms are often a significant issue. To ensure proper diagnosis, the patient underwent a broad spectrum of diagnostic tests, including physical examination with anthropometric measuring, biochemical tests, as well as radiological examinations including CT scan, Doppler vein ultrasound and bone X-ray. Based on physical examination and test results we were able to establish the diagnosis of incomplete expression of Klippel-Trenaunay syndrome.
  
  
  CONCLUSIONS
  The authors aim to emphasise the very rare incidence of KTS, as well as the low level of awareness of the described disease, which resulted in the significantly delayed final diagnosis in the presented case. Establishing the diagnosis of KTS before the onset of severe vascular complications, regular check-ups in the Outpatient Clinic of Haemangioma Care and compression dressing may help avoid/diminish the severity and significantly delay the development of venous failure of the affected limb.
authors: Department of Pediatrics, Nephrology with Dializotherapyand Management of Acute Poisoning, Szczecin, Poland. brodkiewicz@csv.pl
authors: Andrzej
authors: A
authors: Brodkiewicz
authors: Elwira
authors: E
authors: Szychot
authors: Jarosław
authors: J
authors: Peregud-Pogorzelski
authors: Krzysztof
authors: K
authors: Luksza
authors: Mieczysław
authors: M
authors: Walczak
authors: Martyna
authors: M
authors: Tuziak
authors: Maria
authors: M
authors: Giżewska
mesh_terms: D000293:Adolescent; D057210:Delayed Diagnosis; D003952:Diagnostic Imaging; D005260:Female; D006801:Humans; D007715:Klippel-Trenaunay-Weber Syndrome / Q000175:diagnosis*; D010808:Physical Examination