Hereditary neonatal hyperparathyroidism.
Neonatal hyperparathyroidism usually presents as a "failure to thrive" syndrome. It may be transmitted as an autosomal dominant trait and may involve more than one offspring. We report on two brothers with neonatal primary hyperparathyroidism. One underwent a total parathyroidectomy and has lived for 14 years. Hyperparathyroidism was found in their father, suggesting autosomal dominant inheritance. The disease is fatal unless recognized early and treated. The characteristic pathological change is chief cell hyperplasia of the parathyroid glands. Near-total parathyroidectomy is the minimal operation required to control the hypercalcemia. Permanent hypoparathyroidism may be the sequel of appropriate surgical management. Treatment of the totally parathyroidectomized infant, however, is possible and can result in normal growth and development.
D000328:Adult; D005500:Follow-Up Studies; D006801:Humans; D006961:Hyperparathyroidism / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D007223:Infant; D007228:Infant Nutrition Disorders / Q000209:etiology; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics*; D008297:Male; D010280:Parathyroid Glands / Q000473:pathology / Q000601:surgery