We describe a 5 1/2 year old boy who was diagnosed with mild autosomal recessive osteopetrosis based on the presence of bony sclerosis, extramedullary haematopoeisis, leukoerythroblastosis and visual impairment who had an allogeneic bone marrow transplant from a matched sibling donor. Conditioning regime was busulphan 16 mg/kg and cyclophosphamide 200 mg/kg. Apart from transient hypercalcaemia, there were no major post transplant complications. Four years post transplant, the extramedullary haematopoeisis has resolved completely with normal blood counts. Apart from a fracture after a trivial fall two months after transplant, he has not suffered any fracture related limb deformities.
The initial clinical and hematologic presentation of infantile malignant osteopetrosis may be indistinguishable from that of juvenile myelomonocytic leukemia in infants. Timely radiographic imaging, however, allows straightforward delineation of these 2 severe diseases and facilitates immediate initiation of appropriate therapy.
The treatment of fractures in osteopetrosis can be complicated and difficult. We describe the use of an industrial grade tungsten carbide drill bit in the treatment of one of these complex fractures. An industrial grade tungsten carbide drill bit was used to fashion a medullary canal in the surgical treatment of a left peri-implant fracture of the neck of femur in a patient with osteopetrosis. The patient was successfully treated with a hemiarthroplasty with good functional outcomes. A tungsten carbide drill bit serves as an effective and safe option in the treatment of osteopetrotic femoral neck fractures.
Malignant osteopetrosis is associated with petrous carotid canal and internal carotid artery stenosis in the skull base. We present a four-year-old boy with malignant osteopetrosis who developed right frontal lobe infarction as a result of bilateral internal carotid artery hypotrophy.
Osteopetrosis (OP) is a rare hereditary sclerosing bone dysplasia characterised by generalised hard and brittle bone secondary to defective osteoclastic function. Osteopetrotic bone is brittle, thus these subjects are prone to frequent fractures, particularly of the long bones. Due to defective osteoclastic function, remodeling is also defective in OP. This report is a case of humeral fracture in a 9 years old girl who was followed seven years. The fracture had remodeled totally similar to healthy bone at the final follow-up. Conservative treatment should be kept in mind in the management of fractures in children with OP, and fractures within acceptable angulations and/or translations should be treated conservatively without hesitation.