Neurofibromatosis type 1 - FASI and bilateral optic nerve gliomas

Case contributed by Dr Amr Farouk

Presentation

2 years old with visual loss and a skin rash.

Patient Data

Age: 2 years old
Gender: Male

Bilateral almost symmetrical focal areas of high T2 and FLAIR signal intensities are seen in the basal ganglia (namely the globus pallidus and thalamus), brainstem (midbrain and to much lesser extent pons),and subcortical white matter (temporal and parietal regions). 

Bilateral diffuse optic nerve enlargement and elongation with fusiform exophytic mass formation reaching up to the optic chiasm. The optic nerve are seen eliciting T2 central hyperintense signal with low signal periphery (dura) with intense post contrast enhancement.

Case Discussion

A known case of neurofibromatosis type I showing bilateral and almost symmetrical focal areas of high T2 and FLAIR signal intensities in the basal ganglia (namely the globus pallidus and thalamus), brainstem (midbrain and to much lesser extent pons), and subcortical white matter (temporal and parietal regions) representing focal areas of signal intensity (FASI).

Bilateral diffuse optic nerve enlargement and elongation with fusiform exophytic mass formation representing bilateral optic nerve gliomas.

How to use cases

You can use Radiopaedia cases in a variety of ways to help you learn and teach.

Creating your own cases is easy.

Updating… Please wait.

 Unable to process the form. Check for errors and try again.

 Thank you for updating your details.