A rare cause of neonatal hypocalcemia: malignant infantile osteopetrosis

Authors: HAKAN UZUN, EBRU YILMAZ KESKİN, DURSUN ALİ ŞENSES, AYHAN ERDEM, BÜNYAMİN DİKİCİ, KENAN KOCABAY

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.

Keywords: Malignant infantile osteopetrosis, neonatal hypocalcaemia

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