Osteopetrosis Case Series from Tanzania

Osteopetrosis is a rare group of sclerosing bone dysplasia characterized by diminished skeletal resorption. Typical osteopetrosis has the hallmark symptom of increased bone mass with related symptoms resulting from increased bone density. The mainstay of diagnosis is clinical and largely depends on the radiographic appearance of the skeleton. In our case series, three adults were studied, presented with history of recurrent fractures on the extremities sustained after low energy injuries, history of abnormal dentition and dental conditions, and phenotypic appearance of short stature, bossing skull, proptosis, and open fontanelles. From the clinical and radiographic presentations, a diagnosis of osteopetrosis as the underlying condition was reached. Two study subjects were managed conservatively, one was managed surgically following failed conservative management. In conclusion, conservative management is preferable and has good healing, even though there is no remodeling stage due to the abnormalities in osteoclast activities. If conservative management fails, surgical management is warranted.