Presentation
Delayed language development and perineal skin lesions
Patient Data
Multiple bilateral areas of abnormal signal intensity are seen scattered in both thalami, right globus pallidus, brainstem (right cerebral peduncle, basis pontis and right middle cerebellar peduncle), anterior commissure and left cerebellar white matter.
The lesions show predominantly isointense signal in T1 and hyperintense signal in T2 and FLAIR compared to grey matter with no significant mass effect or post-contrast enhancement, in keeping with unidentified bright objects (UBO) / focal areas of signal intensity (FASI).
Relatively prominent left middle cranial fossa and right peri-optic CSF spaces suggestive of dural ectasia.
Case Discussion
This case was suspected to have neurofibromatosis because of skin and deep perineal lesions impressive of plexiform neurofibroma. The presence of such cerebral manifestation almost confirmed the diagnosis.
Important remark of lack of contrast enhancement and lack of contour bulge of the brainstem made the possibility of glioma less likely.
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