• Feng Lin, Kewei Yang, Jiadong Xu, Gang Wang, Lixia Yang, Jinrong Huang, and Dan Li.
• Department of Urology, Affiliated Hospital of Shaoxing University, Shaoxing, Zhejiang, China.
• Medicine (Baltimore). 2024 Feb 16; 103 (7): e36923e36923.

RationaleKlippel-Trenaunay syndrome (KTS) is a rare congenital venous malformation, it had been found to be caused by mutations of the phosphatidylinositol 4, 5-diphosphate 3-kinase catalytic subunit alpha (PIK3CA) gene. Currently KTS is defined as a triad of skin wine pigmented spots, varicose veins and malformations of the lower extremities, and hypertrophy of bone and soft tissue, involving urinary system up to 6% to 30%. When the urinary system is involved, KTS is often presented as painless massive gross hematuria.Patient ConcernsThis article describes a woman who was hospitalized with painless massive gross hematuria. Physical examination revealed significant hypertrophy of the right lower limb with varicose veins, port-wine stains in the skin, and right perineal hemangiomatous changes with swelling. The patient was admitted to hospital 4 times for repeated hematuria and infection.DiagnosesBy physical examination, CT urography, ureteroscopy and cystoscopy, the patient was diagnosed to have Klippel-Trenaunay syndrome, involving the urinary system.InterventionsThe patient hematuria improved after multiple indwelling D-J tubes and anti-inflammatory treatment.OutcomesThe final symptoms of hematuria improved significantly, follow-up so far has not recurred.LessonsThis case presents the possibility of painless gross hematuria with KTS. Most of patients can be improved by conservative treatment. Cystoscopic laser therapy is the preferred treatment for poor bleeding control. Cystectomy and nephrectomy should be considered when life-threatening.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

22 keywords...

hide…