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

TL;DR

This paper reports a rare case of osteopetrosis in an eight-year-old girl, highlighting the importance of recognizing its typical radiological features for timely diagnosis.

Contribution

The paper presents a rare clinical case of osteopetrosis with typical radiological findings and emphasizes the role of imaging in diagnosis.

Findings

The patient exhibited typical radiographic features of osteopetrosis.

Clinical presentation included bilateral arm swelling, visual disturbances, and a history of fracture.

Imaging findings aided in the rapid diagnosis of the condition.

Abstract

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.

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.

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.

Figures