Malignant infantile osteopetrosis: a rare cause of neonatal hypocalcemia

J Pediatr Endocrinol Metab. 2006 Dec;19(12):1459-62. doi: 10.1515/jpem.2006.19.12.1459.

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.

Publication types

  • Case Reports

MeSH terms

  • Calcium Gluconate / therapeutic use
  • Humans
  • Hypocalcemia / diagnostic imaging
  • Hypocalcemia / drug therapy
  • Hypocalcemia / etiology*
  • Infant, Newborn
  • Male
  • Osteopetrosis / complications*
  • Osteopetrosis / diagnostic imaging
  • Osteopetrosis / drug therapy
  • Radiography
  • Seizures / etiology
  • Seizures / therapy
  • Treatment Outcome

Substances

  • Calcium Gluconate