Genitourinary involvement in pediatric patients with Klippel-Trenaunay Syndrome

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.