Presentation
Admitted post first episode of seizure activity. Family history of neurofibromatosis.
Patient Data
Age: 3 years
Gender: Female
From the case:
Neurofibromatosis type 1 - cerebellar FASI
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Areas of T2/FLAIR high signal in the cerebellum bilaterally, more evident on the left consistent with focal areas of myelin vacuolisation. In addition, there are subtle areas of T2/FLAIR increased signal intensity in the globus pallidi bilaterally.
Case Discussion
Focal areas of signal intensity (brain) (FASI) are the most common neuroimaging feature of neurofibromatosis type 1. FASI can be found in the basal ganglia, thalamus, brainstem (pons), cerebellum, and subcortical white matter. FASI represent spongiform myelinopathy or vacuolar change of myelin with no inflammatory reaction in the surrounding tissue.
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