A 17-year-old girl was examined because of recurrent bilateral facial palsy. Skull roentgenograms demonstrated cranial metaphyseal dysplasia. This unusual hereditary disorder, which is due to defective bone remodeling and absorption, is associated with many neurological disabilities, including multiple cranial neuropathies, hemiplegia, and medullary compression. Cranial metaphyseal dysplasia has been incorrectly diagnosed as osteopetrosis. Although similarities between these two disorders exist, differences in the clinical course, roentgenographic findings, and pathophysiology distinguish the two entities.
Saper JR, Holt JF. Cranial Metaphyseal Dysplasia: A Cause of Recurrent Bilateral Facial Palsy. Arch Neurol. 1974;31(3):204–207. doi:10.1001/archneur.1974.00490390086011
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