Sturge-Weber syndrome can be associated with facial port-wine stains and intracranial calcification, and concurrent Klippel-Trenaunay-Weber syndrome has been reported. Klippel-Trenaunay-Weber syndrome is a rare congenital mesodermal phakomatosis characterized by cutaneous hemangiomas, venous varicosities and soft tissue or bone hypertrophy of the affected extremities. This report is presented a rare case of the Sturge-Weber syndrome in combination with the Klippel-Trennaunay syndrome and phakomatosis pigmentovascularis in a 4-month-old infant. He showed nevus flameus on the right leg and both part of the face and back, leptomeningeal angiomatosis on right hemisphere, hypertrophy of the right leg, hemiconvulsion on the left and also evidences of congenital glaucoma and nevus of Ota. Very rare case combined with these three kinds of phakomatosis has been reported.
Humans ; Infant ; Klippel-Trenaunay-Weber Syndrome/*complications/diagnosis ; Male ; Neurocutaneous Syndromes/*complications/diagnosis ; Research Support, Non-U.S. Gov't ; Sturge-Weber Syndrome/*complications/diagnosis

Klippel-Trenaunay-Weber syndrome is a congenital vascular disorder consisted of a variety of vascular malformations, enlargement of the involved limb, and varicose veins. We report a case of Klippel-Trenaunay-Weber syndrome presenting portal hypertension and varices bleeding caused by hypoplasia of the portal vein. Portal hypertension was caused by portal vein hypoplasia associated with Klippel-Trenaunay-Weber syndrome. There were three episodes of variceal bleeding, and hemostasis were achieved by endoscopic band ligation, Sugiura operation, and splenic artery embolization respectively. Although successful hemostasis was achieved, an additional procedures to reduce portal hypertension were needed to prevent repeated episodes of variceal bleeding.
Adult ; English Abstract ; Esophageal and Gastric Varices/*complications ; Gastrointestinal Hemorrhage/*etiology ; Humans ; Hypertension, Portal/complications ; Klippel-Trenaunay-Weber Syndrome/*complications ; Male ; Portal Vein/abnormalities

Klippel - Trenaunay syndrome (KTS) is characterized by a cutaneous vascular nevus of the involved extremity, bone and soft tissue hypertrophy of the extremity and venous malformations. We present a case of KTS with splenic hemangiomas and rectal varices. A 29-year-old woman was referred for intermittent hematochezia for several years. She had history with a number of operations for cutaneous and soft tissue hamangiomas since the age of one year old and for increased circumference of her left thigh during the last few months. Abdominal CT revealed multiple hemangiomas in the spleen, fusiform aneurysmal dilatation of the deep veins and soft tissue hemangiomas. There was no evidence of hepatosplenomegaly or liver cirrhosis. Colonoscopy revealed hemangiomatous involvement in the rectum. There were rectal varices without evidence of active bleeding. Upon venography of the left leg, we also found infiltrative dilated superficial veins in the subcutaneous tissue and aneurysmal dilatation of the deep veins. The patient was finally diagnosed with KTS, and treated with oral iron supplementation only, which has been tolerable to date. Intervention or surgery is not required. When gastrointestinal varices or hemangiomatous mucosal changes are detected in a young patient without definite underlying cause, KTS should be considered.
Adult ; Colonoscopy ; Female ; Hemangioma/*complications ; Humans ; Iron, Dietary/therapeutic use ; Klippel-Trenaunay-Weber Syndrome/complications/*diagnosis/drug therapy ; Rectum/blood supply ; Spleen/blood supply ; Tomography, X-Ray Computed ; *Varicose Veins