title: Williams-Beuren syndrome associated with single kidney and nephrocalcinosis: a case report.
abstract: Williams-Beuren syndrome is a rare neurodevelopmental disorder, characterized by congenital heart defects, abnormal facial features, mental retardation with specific cognitive and behavioral profile, growth hormone deficiency, renal and skeletal anomalies, inguinal hernia, infantile hypercalcaemia. We report a case with Williams-Beuren syndrome associated with a single kidney and nephrocalcinosis complicated by hypercalcaemia. A male infant, aged 20 months presented growth retardation associated with a psychomotor impairment, dysmorphic features and nephrocalcinosis. He had also hypercalciuria and hypercalcemia. Echocardiography was normal. DMSA renal scintigraphy showed a single functioning kidney. The FISH generated one ELN signal in 20 metaphases read and found the presence of ELN deletion, with compatible Williams-Beuren syndrome.
authors.affiliation: Pediatric Nephrology Department, Charles Nicolle Hospital, Tunis, Tunisia.
authors.forename: Kamel
authors.initials: K
authors.lastname: Abidi
authors.affiliation: Pediatric Nephrology Department, Charles Nicolle Hospital, Tunis, Tunisia.
authors.forename: Manel
authors.initials: M
authors.lastname: Jellouli
authors.affiliation: Pediatric Nephrology Department, Charles Nicolle Hospital, Tunis, Tunisia.
authors.forename: Rania
authors.initials: R
authors.lastname: Ben Rabeh
authors.affiliation: Pediatric Nephrology Department, Charles Nicolle Hospital, Tunis, Tunisia.
authors.forename: Yousra
authors.initials: Y
authors.lastname: Hammi
authors.affiliation: Pediatric Nephrology Department, Charles Nicolle Hospital, Tunis, Tunisia.
authors.forename: Tahar
authors.initials: T
authors.lastname: Gargah
mesh_terms: D004549:Elastin / Q000235:genetics; D006552:Hernia, Inguinal / Q000209:etiology / Q000503:physiopathology; D006801:Humans; D006934:Hypercalcemia / Q000209:etiology* / Q000503:physiopathology; D007223:Infant; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D009397:Nephrocalcinosis / Q000209:etiology* / Q000503:physiopathology; D018980:Williams Syndrome / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*
chemical_list: D004549:Elastin
keywords: Williams-Beuren syndrome; infant; nephrocalcinosis