[Neuro-urological findings in Williams syndrome: report of a case].
The Williams syndrome is a relatively rare disease with characteristic facial appearance, mental retardation, growth deficiency, cardiovascular anomalies, hypercalcemia and multiple organic dysfunctions. However, the urological findings of this syndrome (positive in up to 40% of patients) have not been frequently discussed. We present the case of a 6 year-old white girl with this diagnosis and a 3-year history of urinary incontinence. The investigation revealed bladder diverticula and detrusor hyperactivity, which was successfully treated with oxibutimin. We stress the importance of urological investigation, describe the main findings and discuss the pathophysiology and management, which significantly improves the quality of life of these children.
Tobias-Machado
M
M
Servico de Urologia, Hospital Indianópolis (HI), São Paulo.
Marinelli
C M
CM
Sakuramoto
P K
PK
Spinola
R T
RT
Borrelli Júnior
M
M
Freire
G de C
Gde C
Borrelli
M
M
D002648:Child; D005260:Female; D006801:Humans; D008333:Mandelic Acids / Q000627:therapeutic use; D014549:Urinary Incontinence / Q000188:drug therapy / Q000209:etiology* / Q000503:physiopathology; D018980:Williams Syndrome / Q000150:complications* / Q000503:physiopathology
D008333:Mandelic Acids; C005419:oxybutynin
Achados neuro-urológicos da síndrome de Williams: relato de caso.