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 İndekslerine Giren Dergi) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 39 Konu: 3
  • Basım Tarihi: 2009
  • Doi Numarası: 10.3906/sag-0709-20
  • Dergi Adı: TURKISH JOURNAL OF MEDICAL SCIENCES
  • Sayfa Sayıları: ss.457-460

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.