Neurofibromatosis type 1

Case contributed by Ammar Haouimi
Diagnosis almost certain

Presentation

Visual disturbances.

Patient Data

Age: 6 years
Gender: Male
mri

The MRI sequences demonstrate:

Case Discussion

The association of optic pathway gliomas and focal areas of signal intensity (FASI) are highly suggestive of neurofibromatosis type 1.

FASI areas are the most common neuroimaging feature in NF1 patients. They most commonly occur in the basal ganglia, brainstem, thalamus, optic tracts, cerebellum, and infrequently cerebral hemispheres.

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