An Unusual Urological Manifestation of Williams-Beuren Syndrome: Posterior Urethral Valve

Abstract

Williams-Beuren syndrome (WBS) is a genetic, well-defined, rare, neurodevelopmental disorder characterized by intellectual disability, congenital heart defects, abnormal facial features, and growth, endocrine, and genitourinary abnormalities. The genitourinary abnormalities in WBS frequently include congenital structural renal defects, vesicoureteral reflux, nephrocalcinosis, proteinuria, and chronic renal insufficiency. Treatment of patients with posterior urethral valve (PUV) remains a clinical challenge, requiring long-term management from early infancy into adulthood in order to avoid progressive renal insufficiency. To my knowledge, this is the first worldwide case of WBS with PUV in a 12-year-old boy. Due to the delayed detection of the defect, chronic renal disease occurred as a risk for him. This case demonstrates the importance of early diagnosis of genitourinary anomalies such as PUV to prevent chronic renal disease in boys and especially in patients with WBS.