Osteopetrosis with Typical Radiological Findings: A Report of a Rare Case

Abstract

BACKGROUND: Osteopetrosis is a rare inherited disease caused by a lack of osteoclastic bone resorption, resulting in increased bone mass with insufficient mechanical strength. Patients usually present with complications such as pathologic fractures, cranial neuropathies, and bone marrow failure. Diagnosis is based on suggestive clinical and imaging findings, with genetic testing to confirm diagnosis and identify the subtype.

CASE PRESENTATION: The patient is an eight-year-old girl who came to our hospital with complaints of bilateral arm swelling and visual disturbances for four years and a history of fracture of the left lower extremity two years before presentation. Physical examination revealed nontender bilateral arm swelling and a shorter left leg. The laboratory tests were within normal limits. A skeletal radiograph showed typical radiographic features of osteopetrosis.

CONCLUSION: It is important to consider osteopetrosis in patients presenting with pathologic fractures and cranial neuropathies. Typical imaging findings can provide rapid diagnosis in severe cases.