Severe primary hyperparathyroidism in a 3-day-old neonate

Abstract

Neonatal severe primary hyperparathyroidism (NSHPT) is a rare and life-threatening autosomal recessive genetic disorder caused by a wide range of inactivating mutations in Calcium sensing receptors. We introduced a three-day-old neonate with poor feeding, failure to thrive, and lethargy. The laboratory results showed uncontrolled hypercalcemia with hyperparathyroidism; therefore, the patient was referred to a pediatric surgeon for parathyroidectomy. We showed that neonates with NSHPT could be treated with total parathyroidectomy with autotransplant without transplant-induced hypercalcemia.

Keywords

• Pediatric
• Neonatal primary hyperparathyroidism
• Hypercalcemia