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Roth, Christian

Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

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Severe hypercalcemia without hypercalciuria in a previously healthy infant

Bradley C. Clark
  • Department of Pediatrics, Children’s Hospital at Montefiore, Bronx, NY, USA
  • Email:
/ Rita Fleming
  • Department of Pediatrics, Children’s National Medical Center, Washington, DC, USA
/ Michael C. Spaeder
  • Division of Critical Care Medicine, Children’s National Medical Center, Washington, DC, USA
/ Shamir Tuchman
  • Division of Pediatric Nephrology, Children’s National Medical Center, Washington, DC, USA
Published Online: 2012-01-17 | DOI: https://doi.org/10.1515/jpem-2011-0396

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

About the article

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


Received: 2011-08-16

Accepted: 2011-11-21

Published Online: 2012-01-17

Published in Print: 2012-02-01


Citation Information: Journal of Pediatric Endocrinology and Metabolism, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2011-0396. Export Citation

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