Malignant infantile osteopetrosis: A rare cause of neonatal hypocalcemia

Abstract

Malignant infantile osteopetrosis is a rare autosomal recessive disorder characterized by presentation in the first few months of life with manifestations relating to an underlying defect in osteoclastic bone resorption. This report describes a 10 day-old boy in whom neonatal hypocalcemia was present and whose brother had died with the diagnosis of osteopetrosis.