Background: 15% of patients with Williams syndrome develop hypercalcemia that is described as mild and transient. There are, however, reported cases with severe hypercalcemia that did not respond to traditional therapy. Pamidronate was used in the treatment of this condition, and was successful in the few reported cases in the literature.
Case presentation: We report a 9 month old female who presented with failure to thrive, polyuria and polydipsia. She had the typical facial features of Williams syndrome, which was proven by genetic testing. She was found to have a calcium level of 19.5 mg/dl. The patient did not respond well to intravenous hydration and furosemide, so she received a single pamidronate infusion. Her calcium level normalized and she was kept on low calcium diet. Her calcium level is still normal 6 months after the treatment.
Conclusion: Hypercalcaemia associated with Williams syndrome can be very severe with significant morbidity. In addition, Pamidronate intravenous infusion proves to be effective in the treatment of this condition.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology