Hemicraniotomy in a Patient with Autosomal Dominant Osteopetrosis: A Case Report

Background Osteopetrosis is a heterogeneous group of uncommon congenital disorders that causes bony sclerosis and remodeling. Patients who are symptomatic can show significant neurological consequences with the involvement of cranial nerves and intracranial pressure (ICP) symptoms.

Case Report We report an unusual case of a 26-year-old woman with an autosomal-dominant type of osteopetrosis who presented with headache and severe visual deterioration, both attributed to the increased ICP. A hemicranioplasty was performed, resulting in the resolution of her ICP symptoms and stabilization of her vision. Postoperative imaging showed expansion of the ventricles and the subarachnoid spaces with an improvement of the associated cerebellar herniation.

Conclusion In patients with symptomatic autosomal dominant osteopetrosis, cranioplasty might be an option, as in this case, it did not only expand the ventricles but an improvement of a cerebellar herniation was also noticed on postoperative imaging with the resolution of the patient’s ICP symptoms.