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Multiple bladder diverticula with Williams-Beuren syndrome: a case report.
Jing Chen1, Jianhua Mao2, Lezhen Ye1
1Department of Nephrology, Ningbo Women and Children's Hospital, Ningbo, China.
Translational Pediatrics
|January 18, 2021
Summary
Williams-Beuren syndrome (WBS) can manifest with bladder issues like nocturnal enuresis. This case highlights bladder diverticula as a key sign of WBS in children.
Area of Science:
- Genetics
- Pediatrics
- Urology
Background:
- Williams-Beuren syndrome (WBS) is a genetic disorder characterized by developmental delay, cardiovascular anomalies, and distinct facial features.
- Lower urinary tract symptoms (LUTS) are increasingly recognized in WBS patients.
- Non-monosymptomatic nocturnal enuresis is a rare primary presentation of WBS.
Observation:
- A 7.6-year-old girl presented with chronic frequent urination, urgency, and nocturnal enuresis.
- Urinary ultrasound revealed multiple bladder diverticula as a significant finding.
- Genetic testing confirmed a 7q11.23 deletion, indicative of WBS.
Findings:
- The patient's primary symptoms of LUTS were directly linked to multiple bladder diverticula.
- The 7q11.23 deletion, encompassing the elastin gene, confirmed the diagnosis of Williams-Beuren syndrome.
- This case underscores the potential for bladder diverticula to be a primary manifestation of WBS.
Implications:
- Multiple bladder diverticula can significantly contribute to LUTS in WBS patients.
- Effective treatment strategies for LUTS in WBS patients with bladder diverticula are currently limited.
- LUTS should be considered a crucial diagnostic indicator for WBS, impacting patient quality of life.
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