Van Buchem's disease (hyperostosis corticalis generalisata)
The patient had a known diagnosis of Van Buchem Disease (hyperostosis corticalis generalisata). He presented to the neurosurgical unit with progressive ongoing sensorineural deafness due to marked narrowing of the IAMs
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Axial CT imaging at the level of the internal auditory meatus (IAM). There is generalised sclerosis with skull vault thickening. The IAMs were significantly narrowed by the disease process, and the patient was suffering progressive moderate to profound sensorineural hearing loss.
Van Buchem disease is also known as hyperostosis corticalis generalisata. It is closely related to sclerosteosis. Disorders of sclerostin production, an anti-anabolic protein produced by the osteocyte, is responsible in both diseases.
Radiologically, both diseases demonstrate generalised thickening and sclerosis of both skull tables, mandible, ribs and diaphyses of long bones.
Cranial nerve palsies are common, as in our case of a patient with bilateral sensorineural deafness due to narrowing of the IAMs.
Syndactyly and increased height are seen in sclerosteosis and distinguish the diseases from each other. Both disorders are extremely rare.
- van Bezooijen, RL; Papapoulis, SE; Hamdy, NA, Dijke, Pt; Lowik, CW. Control of bone formation by osteocytes? lessons from the rare skeletal disorders sclerosteosis and van Buchem disease. BoneKEy-Osteovision (2005) 2, 33–38 (2005) doi:10.1138/2005018
- Balemans W, Ebeling M, Patel N, Van Hul E, Olson P, Dioszegi M, et al. Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST). Hum. Mol. Genet. 2001;10:537–43.