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Turkish Journal of Medical Sciences

DOI

10.3906/sag-0709-20

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

First Page

457

Last Page

460

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