Hereditary Parathyroid Hyperplasia: A Surgical Emergency of Early Infancy

Two siblings with idiopathic familial parathyroid hyperplasia were identified in early infancy, bringing to 11 the number of known affected infants. Both survived as a result of early subtotal parathyroidectomy, though continuing hyperfunction of remaining tissue necessitated reoperation in both. Despite the presence of hypoparathyroidism, both infants are developing normally. Review of the 11 cases suggests strongly that the disorder is of autosomal recessive inheritance. Only two other infants are known to have survived, emphasizing that early diagnosis and surgery offer the only chance of survival.