An Unusual Case of Klippel-Trénaunay-Weber Syndrome Presenting with Portosystemic Encephalopathy

• Published in: Internal Medicine Vol. 47; no. 18; pp. 1621 - 1625
• Main Authors: Yazaki, Masahide, Kaneko, Kazuma, Tojo, Kana, Miyazaki, Daigo, Shimojima, Yasuhiro, Ueda, Kazuhiko, Ikeda, Shu-ichi
• Format: Journal Article
• Language: English
• Published: Japan The Japanese Society of Internal Medicine 01.01.2008
• Subjects: Angiography; arteriovenous fistula; Encephalopathy; Fistulae; Hepatic Encephalopathy - etiology; Hepatic Encephalopathy - pathology; Humans; Klippel-Trenaunay-Weber Syndrome - complications; Klippel-Trenaunay-Weber Syndrome - diagnosis; Klippel-Trenaunay-Weber Syndrome - pathology; Klippel-Trénaunay-Weber syndrome; Leg; Male; Middle Aged; port-wine stain; Port-Wine Stain - etiology; portohepatic venous shunt; portosystemic encephalopathy; Shunts; Stains; Tomography, X-Ray Computed; Veins
• ISSN: 0918-2918; 1349-7235; 1349-7235
• DOI: 10.2169/internalmedicine.47.1130

We report a unique male patient presenting with portosystemic encephalopathy (PSE) due to intrahepatic portohepatic venous (PHV) shunts. He was diagnosed as having Klippel-Trénaunay-Weber syndrome (KTWS) based on the findings of a hemitruncal port-wine stain with subcutaneous arteriovenous fistulae and varicose veins in the legs. However, limb-hypertrophy, which is one of the most cardinal manifestations of KTWS, was absent, and in KTWS, PSE is quite a rare clinical manifestation. Hence, the clinical picture of this patient was unusual. Our clinical observation suggests that KTWS can be one of the underlying disorders causing PSE.