Genitourinary involvement in pediatric patients with Klippel-Trenaunay Syndrome


      • GU complications due to KTS can manifest in the pediatric population.
      • Diverse pathology in several locations may occur due to lymphatic/venous malformation.
      • Early recognition of GU complications can impact patient morbidity and mortality.



      Klippel-Trenaunay Syndrome (KTS) is a genetic vascular malformation disorder which induces a variety of phenotypic expression in patients which differ in terms of severity/location. While previous studies have documented genitourinary (GU) complications in adult KTS patients, documentation of the scope and incidence of GU involvement in the pediatric population with imaging findings is currently limited. This study represents the largest KTS genitourinary review to date.


      To assess the incidence, scope, clinical findings and imaging characteristics of GU pathology in pediatric KTS patients.


      Using a retrospective data analysis design, the charts and imaging studies of pediatric KTS patients were reviewed. All patients received care at a specialized vascular clinic within a multicenter tertiary care system. Variables studied included age, age at KTS diagnosis, gender, urologic involvement, and age of urologic complication.


      58 patients were identified. 33 were male and 25 were female. 10 patients had GU findings. Three of these patients had multifocal GU involvement (greater than 1 finding). Urologic manifestations were diverse with 9 distinct diagnoses involving 6 unique organs. Renal, vesical and scrotal pathologies were most common. Hematuria was the most common presenting symptom in 30% (3/10). Previously unreported findings (labial swelling, renal lymphatic cysts) were identified. The average age of KTS diagnosis was 4.9 years. The average age of documented GU complication and involvement was 7.6 years.


      Significant GU complications due to KTS can occur in the pediatric population. Early clinical and imaging characterization of these conditions is important for management, family education and early intervention strategies.


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        • Auluck A.
        • Suhas S.
        • Pai K.M.
        Klippel-Trenaunay syndrome.
        Oral Dis. 2005; 11: 255-258
        • Kihiczak G.G.
        • Meine J.G.
        • Schwartz R.A.
        • Janniger C.K.
        Klippel-Trenaunay syndrome: a multisystem disorder possibly resulting from a pathogenic gene for vascular and tissue overgrowth.
        Int J Dermatol. 2006; 45: 883-890
        • Chagas C.A.A.
        • Pires L.A.S.
        • Babinski M.A.
        • Leite T.F.O.
        Klippel-Trenaunay and Parkes-weber syndromes: two case reports.
        Jornal vascular brasileiro. 2017; 16: 320-324
        • Leon Cdo A.
        • Braun Filho L.R.
        • Ferrari M.D.
        • Guidolin B.L.
        • Maffessoni B.J.
        Klippel-Trenaunay syndrome: case report.
        An Bras Dermatol. 2010; 85: 93-96
      1. Klippel-Trenaunay syndrome - genetics home reference.
        in: Health NIo. 2017
        • Rozas-Munoz E.
        • Frieden I.J.
        • Roe E.
        • Puig L.
        • Baselga E.
        Vascular stains: proposal for a clinical classification to improve diagnosis and management.
        Pediatr Dermatol. 2016; 33: 570-584
        • Jalil J.
        • Shafique M.
        • Ghafoor T.
        • Amin U.
        Klippel Trenauny syndrome.
        JPMA The Journal of the Pakistan Medical Association. 2007; 57: 150-151
        • Karunamurthy A.
        • Pantanowitz L.
        • Lepe J.G.
        • Reyes-Mugica M.
        Lethal outcomes in Klippel-Trenaunay syndrome.
        Pediatric and developmental pathology: the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 2013; 16: 337-342
        • Then E.O.
        • Ofosu A.
        • Rawla P.
        • Sunkara T.
        • Gaduputi V.
        Klippel-Trenaunay syndrome, a rare cause of Hematochezia.
        Gastroenterology Res. 2018; 11: 426-429
        • Nathan N.
        • Keppler-Noreuil K.M.
        • Biesecker L.G.
        • Moss J.
        • Darling T.N.
        Mosaic disorders of the PI3K/PTEN/AKT/TSC/mTORC1 signaling pathway.
        Dermatol Clin. 2017; 35: 51-60
        • Patel A.L.
        • Shaikh W.A.
        • Saini K.S.
        • Madhusudan Y.A.
        Klippel Trenaunay syndrome.
        J Assoc Physicians India. 2006; 54: 156-158
        • Husmann D.A.
        • Rathburn S.R.
        • Driscoll D.J.
        Klippel-Trenaunay syndrome: incidence and treatment of genitourinary sequelae.
        J Urol. 2007; 177: 1244-1249
        • Tepeler A.
        • Yesilolva Y.
        • Kilinc A.
        • Aktoz T.
        • Onen A.
        A mild and rare form of Klippel-Trenaunay syndrome presenting with urethral bleeding due to penile hemangioma.
        Urology. 2011; 77: 463-465
        • Mankad V.N.
        • Gray Jr., G.F.
        • Miller D.R.
        Bilateral nephroblastomatosis and Klippel Trenaunay syndrome.
        Cancer. 1974; 33: 1462-1467
        • Turkmen M.
        • Kavukcu S.
        • Cakmakci H.
        • Soylu A.
        • Aktan S.
        • Cagan Y.
        A girl of Klippel-Trenaunay Weber syndrome coexistence of recurrent bloody vaginal discharge.
        Int Urol Nephrol. 2010; 42: 575-578
        • Lei H.
        • Guan X.
        • Han H.
        • et al.
        Painless urethral bleeding during penile erection in an adult man with Klippel-Trenaunay syndrome: a case report.
        Sexual medicine. 2018; 6: 180-183
        • Patel P.R.
        • Lauerman W.C.
        Maurice Klippel.
        Spine. 1995; 20: 2157-2160
        • Manka I.
        • Klauber E.
        Unusual hemorrhage from genitalia in the Klippel-Trenaunay syndrome.
        Bratislavske lekarske listy. 1967; 47: 117-121
        • Denorme P.
        • Morren M.A.
        • Hollants S.
        • et al.
        Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: a brief report.
        Pediatr Dermatol. 2018; 35: e186-e188
        • Bittles M.
        • Jodeh D.S.
        • Mayer J.L.R.
        • Gallant M.
        • Rottgers S.A.
        Laser ablation of embryonic veins in children.
        Pediatrics international: official journal of the Japan Pediatric Society. 2019; 61: 358-363
        • Vicentini F.C.
        • Denes F.T.
        • Gomes C.M.
        • Danilovic A.
        • Silva F.A.
        • Srougi M.
        Urogenital involvement in the Klippel-Trenaunay-weber syndrome. Treatment options and results.
        International braz j urol: official journal of the Brazilian Society of Urology. 2006; 32 ([discussion 703-694]): 697-703