Severe hypercalcemia associated with Williams syndrome successfully treated with pamidronate infusion therapy

Area of Science:

• Pediatrics
• Genetics
• Endocrinology

Background:

• Infantile hypercalcemia affects 15% of Williams syndrome (WS) patients, often mild.
• Severe hypercalcemia in WS can be refractory to conventional treatments.
• Limited data exists on bisphosphonate use for hypercalcemia in WS.

Observation:

• A 17-month-old female with genetically confirmed WS presented with severe hypercalcemia (4.02 mmol/L).
• The patient showed poor response to fluid therapy, furosemide, and dietary calcium restriction.
• Pamidronate infusion was administered due to the severity and lack of response to other treatments.

Findings:

• Pamidronate treatment normalized serum calcium levels within 2 days.
• The patient tolerated the pamidronate infusion well.
• This indicates a positive therapeutic response to pamidronate.

Implications:

• Pamidronate therapy is a potentially safe and effective treatment for severe, life-threatening hypercalcemia in Williams syndrome.
• This case highlights the utility of bisphosphonates in managing refractory hypercalcemia in this genetic disorder.
• Further research into pamidronate's role in WS-associated hypercalcemia is warranted.