A Rare Case of Klippel Trenaunay Syndrome with Von Willebrand Factor Deficiency and Multiple Accessory Spleens: A Case Report and Brief Literature Review

We present a 13-year-old son with a typical clinical manifestation of KTS, including "port-wine stains" as capillary malformation, venous malformation, and hypertrophy of the left lower extremity, who also suffers from von Willebrand Disease type 3. He has been suffering from these two rare conditions since birth. The occurrence of KTS with von Willebrand Factor deficiency in a patient has so far not been reported, which may propose a mutation in the putative common regulatory gene that caused this uncommon phenotype.PMID:38525403 | PMC:PMC10958732 | DOI:10.4103/abr.abr_232_23
Source: Biomed Res - Category: Research Authors: Source Type: research