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, cilt.39, sa.3, ss.457-460, 2009 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 39 Sayı: 3
  • Basım Tarihi: 2009
  • Doi Numarası: 10.3906/sag-0709-20
  • Dergi Adı: TURKISH JOURNAL OF MEDICAL SCIENCES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.457-460
  • Gazi Üniversitesi Adresli: Evet

Özet

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.