Malignant infantile osteopetrosis: A rare cause of neonatal hypocalcemia

Kurt A., Sen Y., Elkiran O., Akarsu S., ÇITAK KURT A. N., Aygun A. D.

Journal of Pediatric Endocrinology and Metabolism, vol.19, no.12, pp.1459-1462, 2006 (SCI-Expanded, Scopus) identifier identifier

  • Publication Type: Article / Article
  • Volume: 19 Issue: 12
  • Publication Date: 2006
  • Doi Number: 10.1515/jpem.2006.19.12.1459
  • Journal Name: Journal of Pediatric Endocrinology and Metabolism
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1459-1462
  • Keywords: Hypocalcemia, Malignant infantile osteopetrosis, Neonate
  • Ankara Yıldırım Beyazıt University Affiliated: Yes

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. © Freund Publishing House Ltd., London.