Neonatal severe primary hyperparathyroidism (NSHPT) is a rare autosomal recessive disorder of calcium homeostasis, characterized by striking hyperparathyroidism, marked hypercalcemia and hyperparathyroid bone disease. We report the case of a newborn with a novel homozygous mutation of the CaSR, treated by successful subtotal parathyroidectomy, who had an acute presentation of the disease, i.e. out-of hospital cardiorespiratory arrest. .
|Titolo:||Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation|
|Data di pubblicazione:||2018|
|Appare nelle tipologie:||1.1 Articolo in rivista|