Acute renal failure due to severe hypercalcemia and nephrocalcinosis treated with two doses of pamidronate in an infant with Williams-Beuren syndrome

Abstract

Infantile hypercalcemia has been reported in 15% of infants and children withWilliams-Beuren syndrome (WBS) and has generally mild clinical symptoms.However, the need for pamidronate treatment in a few infants with severehypercalcemia associated with WBS has been reported in literature. Manydisorders, such as primary hyperoxaluria, associated with nephrocalcinosiscan lead to renal failure, but there are only a few reports in infants withWBS who have decreased renal function and nephrocalsinosis. We present a23-month-old girl with WBS (confirmed with fluorescent in situ hybridizationprobes) who presented with acute renal failure with severe symptomatichypercalcemia and nephrocalcinosis, which responded to two infusions ofpamidronate.