Neurofibromatosis type 1 - optic nerve glioma and orbital plexiform neurofibromas

Case contributed by Henry Knipe
Diagnosis almost certain


Follow-up from clinic.

Patient Data

Age: 20 years
Gender: Male

The right optic nerve is expanded within the orbit and is T2 hyperintense. There is no convincing intracranial extension, and the chiasm appears unremarkable in size and signal. No abnormal enhancement identified within the optic apparatus or other part of the brain. No intra extra-axial collection or mass is evident elsewhere.

Within the upper aspect of the orbits bilaterally are serpiginous high T2 intermediate to low T1 structures which do not enhance, which presumably represent plexiform neurofibromas, although usually PNF enhance. Th

Very numerous smaller cutaneous lesions are scattered throughout the scalp and soft tissues of the neck.

Case Discussion

This patient had a known history of neurofibromatosis type 1 with plexiform neurofibromas and optic nerve glioma being typical manifestations. 

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