A rare cause of neonatal hypocalcemia: malignant infantile osteopetrosis

UZUN H., Keskin E. Y., Senses D. A., Erdem A., Dikici B., KOCABAY K.

TURKISH JOURNAL OF MEDICAL SCIENCES, vol.39, no.3, pp.457-460, 2009 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 39 Issue: 3
  • Publication Date: 2009
  • Doi Number: 10.3906/sag-0709-20
  • Journal Name: TURKISH JOURNAL OF MEDICAL SCIENCES
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.457-460
  • Gazi University Affiliated: Yes

Abstract

Malignant infantile osteopetrosis (MIOP) is a rare inherited bone disease characterized by reduced or dysregulated activity of osteoclasts, which results in generalized osteosclerosis. This leads to abnormal bone marrow cavity formation and to the clinical signs and symptoms of bone marrow failure and nerve compression. Symptoms related to early or late hypocalcemia may appear as the first presentation of MIOP in a newborn. We present a 14-day-old boy with neonatal hypocalcaemia due to MIOP.