Presentation
Facial and cranium asymmetry, left proptosis since childhood, prior meningioma removal surgery.
Patient Data
Left-sided proptosis due to sphenoid hyperostosis. Irregular left frontal and parietal bones thickening with a mild mass effect to the underlying frontal lobe.
Cerebellar tonsils displacement by 16 mm, there are no signs of CSF flow obstruction.
Dilated perivascular spaces at the left-sided deep white matter.
Small meningioma measuring 15 mm seen in the left frontal region.
Curved C2 odontoid process best seen on coronal series.
There is no diffusion restriction within the brain.
Case Discussion
A genetic test revealed the AKT1 gene mutation.
There are a number of dysplastic features. The cause of the left proptosis turned out sphenoid wing hyperostosis.
Irregular frontal and temporal bones thickening, meningiomas (1 present, 1 removed) are another one interesting clues that led us to assume Proteus syndrome as a possible cause for it.
Meningiomas are the most common intracranial tumor in Proteus syndrome and are associated with a characteristic pattern of cranial hyperostosis, which is caused by a somatic activating mutation in AKT1 gene.