Neurofibromatosis type 1 - cerebellar FASI

Case contributed by Dr Aneta Kecler-Pietrzyk


3 year old girl admitted post first episode of seizure activity. Family history of neurofibromatosis.

Patient Data

Age: 3 years
Gender: Female

Areas of T2/FLAIR high signal in the cerebellum bilaterally, more evident on the left consistent with focal areas of myelin vacuolisation. 

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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Case information

rID: 53387
Published: 25th Oct 2017
Last edited: 29th Oct 2018
Inclusion in quiz mode: Excluded

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