Osteopetrosis: A Case Report and Review of the Literature

Abstract

Osteopetrosis or marble bone disease is a rare heritable skeletal disorder that the bones becoming denser, caused by aberrant osteoclast-mediated bone resorption. This condition reveals a spectrum of heterogeneity of genetic defects. This metabolic disorder has an unequal balance between new bone formation and old bone resorption. Thus the result is increased bone density on radiographs. Presented here is a 25 years-old Persian female presented to our clinic with the chief complaint of low back pain and limping. She explained that her problem had been present for a long time. There were no other significant findings in past medical history and her parents and three siblings did not have any disorder of note, however, the parents were first cousin. No specific laboratory abnormalities found in the initial evaluation. On physical examination, an antalgic gait is noted. A Bone biopsy from proximal medial tibia revealed increased density of the cortex and part of medullary canal with hematopoietic marrow and irregular and thickened bone trabeculae. These factors suggested osteopetrosis disease. Osteopetrosis should be kept in mind as a rare cause of low back pain and limping and should be mentioned as a differential diagnosis of fluorosis, Paget’s disease, malignancies (lymphoma, osteoblastic cancer metastases) and myelosclerosis.

Keywords: Osteopetrosis, marble bone disease, bone trabeculae, Iran.