A case report of neonatal osteopetrosis

Abstract

Osteopetrosis is a rare bone disease that occurs due to failure in bone resorption. Osteoclast dysfunction and persistent calcification of primary chondroids and bones are the cause of the disease. Osteopetrosis is a rare hereditary condition known as abnormal bone resorption. Considering the importance of prompt and timely diagnosis and follow-up and treatment with significant complications, we decided to report a case of neonatal osteopetrosis diagnosed 12h following admission to the neonatal intensive care unit of Imam Reza Hospital. The 7-day-old male neonate was hospitalised due to abdominal mass and thrombocytopenia. Hepatosplenomegaly and thrombocytopenia were diagnosed on examination and tests. Finally, the infant was referred to the neonatal intensive care unit of Imam Reza Hospital in Mashhad at 7 days of age for further evaluation. Chest X-ray taken as part of sepsis workup showed increased rib and arm bone density. A facial X-ray was taken, and eye sign detected for the diagnosis of osteopetrosis. In every neonate with hepatosplenomegaly, thrombocytopenia, and increased bone density, in addition to a neonatal sepsis workup, a facial X-ray should be taken initially to observe signs and confirm osteopetrosis.