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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Editorial Board Member: Darendeliler, Feyza / Gustafsson, Jan / Luo, Feihong / Mericq, Veronica / Lanes M. D., Roberto / Battelino, Tadej / Buyukgebiz, Atilla / Cassorla, Fernando / Chrousos, George P. / Cutfield, Wayne / Fideleff, Hugo L. / Hershkovitz, Eli / LaFranchi, Stephen H. / Mohn, Angelika / Root, Allen W. / Rosenfeld, Ron G. / Wabitsch, Martin / Werther, George / Zadik, Zvi

12 Issues per year


IMPACT FACTOR 2013: 0.711

SCImago Journal Rank (SJR): 0.334
Source Normalized Impact per Paper (SNIP): 0.423

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Severe hypercalcemia without hypercalciuria in a previously healthy infant

1 / Rita Fleming2 / Michael C. Spaeder3 / Shamir Tuchman4

1Department of Pediatrics, Children’s Hospital at Montefiore, Bronx, NY, USA

2Department of Pediatrics, Children’s National Medical Center, Washington, DC, USA

3Division of Critical Care Medicine, Children’s National Medical Center, Washington, DC, USA

4Division of Pediatric Nephrology, Children’s National Medical Center, Washington, DC, USA

Corresponding author: Bradley C. Clark, MD, Children’s Hospital at Montefiore, Rosenthal 4 Pediatrics, 110 E 210th Street, Bronx, NY 10467, USA Phone: +1-718-741-2470, Fax: +1-718-654-6692

Citation Information: Journal of Pediatric Endocrinology and Metabolism. Volume 25, Issue 1-2, Pages 187–190, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: 10.1515/jpem-2011-0396, January 2012

Publication History

Received:
2011-08-16
Accepted:
2011-11-21
Published Online:
2012-01-17

Abstract

Williams-Beuren syndrome (WBS) is a multisystem disorder that has a broad range of clinical findings including characteristic facial appearance, supravalvular aortic stenosis, dental and developmental abnormalities, and endocrinologic disorders including but not limited to the development of hypercalcemia. We present the case of a 10-month-old girl, with a history of intrauterine growth restriction, who presented with symptoms of weight loss and poor feeding. She was found to have severe elevation of her serum calcium to 20 mg/dL. She was subsequently diagnosed with WBS by fluorescent in situ hybridization analysis. The exact etiology of hypercalcemia in patients with WBS is unknown, but there are several hypotheses. Treatment of hypercalcemia in WBS is achieved with intravenous (IV) fluids, loop diuretics, and a low calcium diet; bisphosphonate therapy is required if adequate decreases in the serum calcium level are not achieved with traditional therapy.

Keywords: calcium-sensing receptor; hypercalcemia; PTH; urine calcium/creatinine ratio; Williams-Beuren syndrome

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