A challenging case of neonatal hyperparathyroidism

Abstract

Neonatal severe primary hyperparathyroidism (NSPHT) is rare disease in neonates, characterized by hypercalcemia, failure to thrive, skeletal demineralization and often multiple fractures. NSPHT induced hypercalcemia is often refractory to conventional medical therapy and may demand technically challenging surgery. We herein report a case of a neonate with NSPHT, due to novel mutation, who failed medical therapy including calcimimetics and underwent total parathyroidectomy with tracheostomy in our setup.