Camurati-Engelmann disease is a rare autosomal dominant metabolic bone disorder. We report the case of a 34-year-old woman diagnosed at age 16. She initially presented with chronic lower limb pain, and lethargy. There was no family history of any bone disease. She demonstrated bony enlargement and warmth of both femora and tibiae, muscle wasting and decreased subcutaneous fat of all limbs, and her body mass index was less than 14. A nuclear medicine bone scan demonstrated markedly increased uptake in the diaphyseal regions of the humeri, femora, and proximal tibiae bilaterally, and the skull base. Plain X-rays demonstrated patchy cortical thickening and sclerosis of both femora, humeri, radii, ulnae and of the skull, with loss of corticomedullary differentiation. Total body bone mineral density was in the 125th centile matched for age, weight and ethnicity. Serum alkaline phosphatase and eryrthrocyte sedimentation rate were markedly elevated, as were urine hydroxyproline, pyridinoline, and deoxypyridinoline. Treatment was difficult. Repeated trials of oral alendronate caused increased pain, glucocorticoids did not improve symptoms, and non-steroidal anti-inflammatories provided some relief. She received a total of 12 intravenous pamidronate infusions between ages 18 to 20, which gave short-term symptomatic relief without significant impact on biochemical markers. She received intravenous zoledronic acid initially in 2003 with short-term symptomatic relief. Over time she developed proptosis, pseudoclubbing, and widespread small, nontender lymphadenopathy. An MRI brain at age 33 demonstrated progressive bony expansion of the skull, ongoing mass effect of the orbits, a partially empty sella, and prominent fluid in the optic nerve sheaths suggestive of intracranial hypertension. She was reviewed by a neurosurgeon, and a conservative approach was adopted given the lack of data regarding the progression of disease, the current preservation of vision, and the technical difficulty of surgery in this disorder due to the abnormal density of bone.