[Primary severe neonatal hyperparathyroidism. Significance of genetic study and emergency parathyroidectomy]

Primary hyperparathyroidism in the newborn is uncommon. The clinical features as well as histological lesions of the parathyroid glands are quite different from those in the adult. The degree of hypercalcemia and the high frequency of pulmonary complications may threaten the life of the infant. Management is straight forward: early surgical removal and supplementation with calcium and vitamins should be quickly followed by an autograft. In the severe case herein reported, the diagnosis, suggested by family history, was confirmed by a rapid increase in calcemia as well as by very characteristic skeletal lesions.