Neurofibromatosis type 1 (cerebellar FASI)

Case contributed by Dr Aneta Kecler-Pietrzyk

Presentation

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 areas 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
Case created: 15th May 2017
Last edited: 31st Oct 2017
Inclusion in quiz mode: Excluded

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