Neonatal primary hyperparathyroidism with autosomal dominant inheritance

Abstract

PRIMARY HYPERPARATHYROID ISM in infancy is a rare and sometimes life-threatening disease. Prominent features of the 15 reported cases include anorexia, hypotonia, bony demineralization, hypercalcemia, and hyperplasia of the parathyroid. 1-~ Hillman and associates 1 reported two cases in brothers and termed the disease familial primary hyperparathyroid ism. Subsequently Goldbloom and associates-' described two sisters with similar findings and suggested that the disease was inherited as an autosomal recessive trait. In the process of testing a large kindred with familial hyperparathyroidism, we encountered a case of severe neonatal hyperparathyroidism with features similar to those of the 15 previously reported cases. This case indicates clearly that the disease may be inherited in autosomal dominant fashion.