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Published on: March 14, 2017
Severe infantile hypercalcemia associated with Williams syndrome successfully treated with intravenously administered
Andrew P Cagle1, Steven G Waguespack, Bruce A Buckingham
1Department of Pediatrics, Section of Pediatric Endocrinology and Diabetology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Insights
Severe hypercalcemia in Williams syndrome (WS) can occur and may require bisphosphonate treatment. Intravenously administered pamidronate offers a safe and effective option for managing severe WS-associated hypercalcemia.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Rare Diseases
Background:
- Williams syndrome (WS) is a genetic disorder associated with various medical complications.
- Hypercalcemia is a known, though typically mild, complication in children with WS, affecting about 15%.
Observation:
- This report details three pediatric cases of WS presenting with severe, symptomatic hypercalcemia.
- Initial management with traditional therapies was insufficient for two of the patients.
Findings:
- Two patients with severe hypercalcemia secondary to WS were successfully treated with intravenous pamidronate.
- Pamidronate administration resulted in asymptomatic mild hypocalcemia but no other significant complications.
Implications:
- WS-associated hypercalcemia can be severe and symptomatic, contrary to typical presentations.
- Intravenous bisphosphonates, such as pamidronate, represent a safe and effective therapeutic strategy for severe cases unresponsive to conventional treatments.
Abstract:
Infantile hypercalcemia occurs in approximately 15% of children with Williams syndrome (WS) and is typically not clinically severe. We report on 3 children with WS (confirmed with fluorescent in situ hybridization probes) who presented with severe symptomatic hypercalcemia. The first patient's severe hypercalcemia resolved with traditional therapies, whereas the subsequent 2 patients were treated with intravenously administered pamidronate after traditional measures proved only partially successful. Besides asymptomatic mild hypocalcemia, there were no complications resulting from pamidronate administration. We conclude that WS-associated hypercalcemia can be quite severe and symptomatic and that it can be successfully and safely treated with intravenously administered bisphosphonate in some cases.
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