Multiple bladder diverticula with Williams-Beuren syndrome: A case report

Abstract

Williams-Beuren syndrome (WBS) is an autosomal dominant disorder caused by a gene deletion on chromosome 7q11.23. Patients with WBS usually show a group of features such as developmental delay, cardiovascular anomalies, mental retardation, and characteristic facial appearance. It occurs in 1:7,500 live births and affects males and females equally. Recent studies showed that lower urinary tract symptoms were also frequent in WBS patients. However, there is extremely rare study report non-monosymptomatic nocturnal enuresis as the main manifestation of Williams syndrome in children. We reported a child with non-monosymptomatic nocturnal enuresis and multiple bladder diverticula as the main implications of Williams syndrome. A 7.6-year-old girl was admitted to our hospital due to frequent micturition, urgency, and nocturnal enuresis for 4 years, and B ultrasound of urinary system revealed multiple bladder diverticula. The patient was found to have 7q11.23 deletion that involves the elastin gene for WBS. Multiple bladder diverticula in WBS patients can lead to many lower urinary tract symptoms. The treatment for the lower urinary tract symptoms in WBS patients with multiple bladder diverticula is lacking. Lower urinary tract symptoms should be considered as a significant indicator of the clinical diagnosis of WBS and have a significant negative impact on patient's quality of life.