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Multiple bladder diverticula in Williams "Elfin-Facies" syndrome
Pediatric Radiology
|February 26, 1979
Summary
Children with Williams syndrome show a high rate of multiple bladder diverticula, often missed by standard imaging. This finding suggests a link between this genetic disorder and urinary tract abnormalities.
Area of Science:
- Pediatric Urology
- Genetics
- Connective Tissue Diseases
Background:
- Williams syndrome, characterized by "elfin-facies", is a rare genetic disorder.
- Bladder diverticula are uncommon in children, particularly multiple occurrences.
Purpose of the Study:
- To investigate the incidence of bladder diverticula in children with Williams syndrome.
- To highlight the diagnostic challenges in identifying these abnormalities.
Main Methods:
- Review of 23 children diagnosed with Williams syndrome.
- Analysis of voiding cystourethrograms and excretory urography findings.
Main Results:
- Eight out of 14 children (57%) with voiding cystourethrograms had multiple bladder diverticula.
- These diverticula were frequently not visible on standard excretory urography.
Conclusions:
- Multiple bladder diverticula are a significant finding in children with Williams syndrome.
- Consideration of Williams syndrome and other connective tissue disorders is crucial when multiple bladder diverticula are detected.