Multimodality Imaging of Osteopetrosis

Abstract

Osteopetrosis (OP) is a descriptive term that refers to a group of rare, heritable disorders of the skeleton. This condition varies greatly in their presentation and severity, ranging from neonatal onset with life-threatening complications (classic or "malignant" ARO), to the incidental finding on radiographs (ADO), due to carbonic anhydrase deficiency and an intermediate (IOP) a more uncommon form of the disease. However, this variant tends to present later in childhood. Plain radiography and sectional imaging in particular magnetic resonance imaging (MRI) plays important role in the diagnosis of the osteopetrosis and its subtypes. To demonstrate IOP radiological features, role of different imaging modalities and the importance of imaging in diagnosis especially the role of MRI in diagnosing the type of inheritance in patients of osteopetrosis. We present a case of 7 year old boy of osteopetrosis intermediate type of inheritance, diagnosed by plain radiography with clinical differential diagnosis of Thalassemia major. Plain radiography is the modality of choice in diagnosing the disease. MRI further helps to identify the variants of the osteopetrosis. This case emphasizes the importance of imaging in the diagnosis of the osteopetrosis.