Skull base manifestations of Camurati-Engelmann disease

Objective: To describe presenting symptoms, evaluation findings, and surgical management of cranial base hyperostosis in patients with Camurati-Engelmann disease (CED). Design: Retrospective study and literature review. Setting: The Mayo Clinic, Rochester, Minnesota. Patients: A total of 306 patients diagnosed as having CED, including 12 primarily evaluated at our institution between 1968 and 2008, and 294 identified in the international literature. Main Outcome Measures: Presenting symptoms, methods of diagnosis, treatment strategies, and patient outcomes. Results: One hundred seventy-three of 306 patients (56.5%) had radiographically proven skull base hyperostosis, whereas less than one-fourth were symptomatic. The most common manifestations of cranial base involvement were hearing loss (19.0%), headache (10.4%), exophthalmos (8.2%), and frontal bossing (7.2%); less common were vision changes, vertigo, facial weakness, symptomatic brainstem compression, facial numbness, and hyposmia. Although corticosteroids and bisphosphates may treat torso and extremity involvement, they demonstrate no benefit for symptomatic skull base disease. In select symptomatic patients, aggressive decompression surgery may provide the only means of treatment. Decompression surgery is more challenging with thick sclerotic bone, loss or obscuration of bony landmarks, and decreased supratentorial space. Patients must be counseled on the increased risks associated with surgery and the potential for redeposition of bone and recurrence of symptoms. Conclusions: Physicians should include CED in the differential diagnosis for patients with radiographic evidence of skull base thickening and synchronous cranial neuropathies or symptoms of elevated intracranial pressure. In mild forms of the disease, the clinical course of patients should be followed with serial examination, audiometric testing, and radiography. In select patients with progressive cranial base symptoms, aggressive wide decompression of involved neurovascular structures may provide benefit.