Late-onset hypercalcemia in Williams-Beuren syndrome: importance of early and frequent screening and intervention

Alison M. Helfrich; Katherine Q. Philla

doi:10.1515/jpem-2014-0266

Article

Late-onset hypercalcemia in Williams-Beuren syndrome: importance of early and frequent screening and intervention

Alison M. Helfrich and Katherine Q. Philla

Published/Copyright: October 18, 2014

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 28 Issue 3-4

Abstract

Williams-Beuren syndrome (WBS) affects multiple systems and has a known association with infantile hypercalcemia that is typically mild and transient. We report a 12-month-old female previously diagnosed with WBS by a chromosomal microarray, who was admitted for failure to thrive. Upon evaluation, serum calcium of 19.0 mg/dL (4.75 mmol/L) (normal 9–11 mg/dL, SI: 2.25–2.75 mmol/L) and serum ionized calcium of 2.33 mmol/L (normal 1.22–1.37 mmol/L) were revealed. Her hypercalcemia correlated with symptoms of irritability, poor feeding, mild hypotonia, and constipation, which were increasingly present for 6 months prior to admission. This calcium level is one of the highest reported in association with WBS. Additionally, while hypercalcemia associated with WBS typically resolves by the first year, this case represents a later presentation as compared to other reports. The patient initially responded to conservative treatment with intravenous fluids administration, loop diuretic therapy, and dietary calcium restriction. However, she subsequently had rebound hypercalcemia 5 weeks after treatment and received one dose of intravenous bisphosphonate with subsequent resolution of her hypercalcemia. Our report highlights the importance of screening, early management, and recognition of late presentation hypercalcemia in the setting of WBS.

Keywords: bisphosphonate; constipation; failure to thrive; hypercalcemia; Williams-Beuren syndrome

Corresponding author: Alison M. Helfrich, Department of Pediatrics, Walter Reed National Military Medical Center, 8901 Wisconsin Avenue, Bethesda, MD 20889, USA, Phone +1-301-295-4900, E-mail: alison.m.helfrich.mil@mail.mil

aAlison M. Helfrich: She cared for the patient reported in this article while admitted to the inpatient pediatric service at Walter Reed National Military Medical Center. She also wrote the first draft of the case report submission.bKatherine Q. Philla: She was the pediatric endocrine fellow consultant while the patient was admitted to the inpatient ward and outpatient follow-up care. She made management recommendations to rectify the associated hypercalcemia. She also provided guidance to Dr. Helfrich throughout her draft process. She completed final case report revisions.

Acknowledgments

We wish to acknowledge the assistance of Drs Vogt, Emerick, and Loprieato in the preparation of this case report. We also would like to acknowledge the active duty family members who have provided valuable contributions to our medical education.

Conflict of interest statement: The authors have no conflicts of interest to disclose. The views expressed in this article are those of the authors and do not reflect the official policy or position of the United States Armed Forces, Department of Defense, or the U.S. Government.

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Received: 2014-6-20

Accepted: 2014-9-22

Published Online: 2014-10-18

Published in Print: 2015-3-1

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Articles in the same Issue

https://doi.org/10.1515/jpem-2014-0266

Keywords for this article

bisphosphonate; constipation; failure to thrive; hypercalcemia; Williams-Beuren syndrome