A 1-month-old boy was referred to the radiology department due to pain and right lower leg immobility. The radiographic studies showed increased bone density with loss of cortico-medullary differentiation and un-displaced fracture of the right proximal femur, suspecting osteopetrosis, then requested for CXR to confirm the diagnosis and showing: broadening of the costochondral junctions with loss of corticomedullary differentiation of bones and all these findings consistent with Infantile autosomal recessive osteopetrosis

Then the patient came after a few months of vision errors and after an ophthalmologic examination requested for a CT brain. The patient was diagnosed with osteopetrosis with ocular manifestations.

Osteopetrosis is a rare genetic disorder affecting bone development and caused by dysfunctional osteoclasts responsible for bone remodeling. Osteosclerosis symptoms are variable and may depend on the disease's severity.

Case courtesy of Dr. Amr Awad and Dr. Safwat Almoghazi MD.