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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
PubMed

Insights

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.

Keywords:
Non-monosymptomatic nocturnal enuresisWilliams-Beuren syndromebladder diverticula

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