Pamidronate Rescue Therapy for Hypercalcemia in a Child With Williams Syndrome

Area of Science:

• Pediatric Endocrinology
• Genetics
• Nephrology

Background:

• Williams Syndrome (WS) is a genetic disorder associated with developmental delays and cardiovascular issues.
• Hypercalcemia is a common complication in infants with Williams Syndrome, potentially leading to serious health problems.
• Nephrocalcinosis, or calcium deposits in the kidneys, is a significant concern in pediatric hypercalcemia.

Observation:

• A 15-month-old infant with Williams Syndrome presented with severe hypercalcemia and nephrocalcinosis.
• Standard treatments including intravenous hydration and furosemide were ineffective in managing the high serum calcium levels.
• Pamididronate administration resulted in a rapid and substantial reduction in serum calcium.

Findings:

• Pamididronate demonstrated efficacy in rapidly decreasing serum calcium levels in a pediatric patient with refractory hypercalcemia secondary to Williams Syndrome.
• The bisphosphonate treatment was well-tolerated and provided a sustainable decrease in calcium levels.

Implications:

• Pamididronate represents a viable second-line treatment option for severe, refractory hypercalcemia in infants and children diagnosed with Williams Syndrome.
• Early consideration of pamidronate may prevent long-term complications associated with persistent hypercalcemia and nephrocalcinosis in WS patients.
• This case highlights the importance of tailored therapeutic approaches for managing metabolic complications in genetic syndromes.