Highlights
- •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.
Abstract
Background
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.
Objective
To assess the incidence, scope, clinical findings and imaging characteristics of GU
pathology in pediatric KTS patients.
Materials/Methods
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.
Results
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.
Conclusion
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.
Keywords
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Article info
Publication history
Published online: June 09, 2020
Accepted:
June 7,
2020
Received in revised form:
May 11,
2020
Received:
December 14,
2019
Identification
Copyright
© 2020 Elsevier Inc. All rights reserved.
