Introduction:
Craniometaphyseal dysplasia is a very rare, mostly autosomal dominant disease which
often manifests in early childhood. It is typically accompanied by characteristic
facial dysmorphia and metaphyseal dysplasia. Hyperostosis may cause cranial nerve
compression and lead to e.g. facial nerve palsy, loss of vision or hearing loss.
Methods:
A 33-year-old patient presented with recurring peripheral nerve palsy on the left
side with incomplete eyelid closure. A facial asymmetry first occurred at the age
of five. Both parents, and uncles and great-grandmother on the paternal side also
suffered from peripheral facial nerve palsy. We diagnosed craniometaphyseal dysplasia
in the patient from a temporal bone CT along with a hand x-ray and a skull MRI.
Results:
The patient was admitted to our hospital for infusion therapy with prednisolone. Over
the following 4 – 5 months, facial palsy was declining to House-Brackman Grade II-III°.
Human genetic counselling is still pending. Currently there are no reliable studies
available on the effect of drugs, such as calcitonin or a calcium diet along with
calcitriol, in therapeutic approaches.
Conclusion:
Diagnosis and therapy recommendation in craniometaphyseal dysplasia needs an interdisciplinary
approach. Surgical approaches were described for hearing loss, removing nasal obstruction,
correcting facial dysmorphia and decompressing the optical nerve canal and foramen
magnum when being critically constricted. A surgical therapy for decompressing the
facial canal has not been described yet, partly because bony regrowth and recurring
compression are likely to happen and considerable operative risks exist.
