Neurofibromatosis type 1 - CNS manifestations

Case contributed by Bahman Rasuli
Diagnosis almost certain

Presentation

Headaches.

Patient Data

Age: 13 years
Gender: Female

MRI of the brain demonstrates fusiform enlargement of the optic apparatus, including the posterior optic nerves, optic chiasm, optic tracts, and into the midbrain and basal ganglia. 

There are abnormal hyperintensities on FLAIR, and T2WI of the dentate nuclei, posterior aspect of the midbrain, thalami, globi pallidi, and the splenium of the corpus callosum in keeping with foci of abnormal signal (FASI).

Case Discussion

The case illustrates typical neurological manifestations of NF type 1 such as the FASI and an extensive optic pathway glioma in a child with known NF1. 

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