Neonatal primary hyperparathyroidism--a case report and review of the literature.

Primary Hyperparathyroidism in the neonate is exceptionally rare and is almost invariably fatal unless a prompt diagnosis is made and urgent surgical intervention instituted. The first case was reported in 1947 by Prat et al (30) and since then 35 cases have been published. The true number is probably greater due to the diagnosis being missed both clinically and at autopsy and it has been suggested as a possible contributor to a small number of cases of the Sudden Infant Death Syndrome (17). The authors report on a case presenting in a female neonate, review the world literature and discuss the clinical manifestations, investigators findings and the management options available.