title: [Neuro-urological findings in Williams syndrome: report of a case].
abstract: 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.
authors.affiliation: Servico de Urologia, Hospital Indianópolis (HI), São Paulo.
authors.forename: M
authors.initials: M
authors.lastname: Tobias-Machado
authors.forename: C M
authors.initials: CM
authors.lastname: Marinelli
authors.forename: P K
authors.initials: PK
authors.lastname: Sakuramoto
authors.forename: R T
authors.initials: RT
authors.lastname: Spinola
authors.forename: M
authors.initials: M
authors.lastname: Borrelli Júnior
authors.forename: G de C
authors.initials: Gde C
authors.lastname: Freire
authors.forename: M
authors.initials: M
authors.lastname: Borrelli
mesh_terms: 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
chemical_list: D008333:Mandelic Acids; C005419:oxybutynin
vernacular_title: Achados neuro-urológicos da síndrome de Williams: relato de caso.