Article ; Online: Williams-Beuren syndrome associated with single kidney and nephrocalcinosis: a case report.
The Pan African medical journal
2015 Volume 22, Page(s) 276
Abstract: ... a case with Williams-Beuren syndrome associated with a single kidney and nephrocalcinosis complicated ... Williams-Beuren syndrome is a rare neurodevelopmental disorder, characterized ... Williams-Beuren syndrome. ...
| 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. |
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| MeSH term(s) | Elastin/genetics ; Hernia, Inguinal/etiology ; Hernia, Inguinal/physiopathology ; Humans ; Hypercalcemia/etiology ; Hypercalcemia/physiopathology ; Infant ; Kidney/abnormalities ; Male ; Nephrocalcinosis/etiology ; Nephrocalcinosis/physiopathology ; Williams Syndrome/diagnosis ; Williams Syndrome/genetics ; Williams Syndrome/physiopathology |
| Chemical Substances | Elastin (9007-58-3) |
| Language | English |
| Publishing date | 2015 |
| Publishing country | Uganda |
| Document type | Case Reports ; Journal Article |
| ZDB-ID | 2514347-5 |
| ISSN | 1937-8688 ; 1937-8688 |
| ISSN (online) | 1937-8688 |
| ISSN | 1937-8688 |
| DOI | 10.11604/pamj.2015.22.276.7929 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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