Neurofibromatosis type 1

Case contributed by Utkarsh Kabra
Diagnosis almost certain

Presentation

Diminished vision in left eye.

Patient Data

Age: 8 years
Gender: Female

Brain

mri

Mass like thickening of both optic nerves involving intraorbital, intracanalicular and intracranial segments (L>R). Maximum thickness is approx. 15 mm on left side involving the intraorbital segment and 7.8 mm on right side involving the intracranial segment. Lesion on left side is causing mild compression of globe at posterior aspect. Optic chiasma is not involved. Post-contrast study shows mild homogeneous enhancement (L>R).

Bilateral extraocular muscles are normal. Lacrimal gland and lacrimal sac appear normal.

Multiple hyperintense areas are seen involving bilateral globus pallidi, optic tracts, thalami, midbrain and left cerebellar hemisphere. Post-contrast study shows no obvious enhancement in these lesions. 

Pituitary gland appears normal. Lateral, third and fourth ventricles are normal in size, shape and position. Major signal void areas of the brain are normal.

Case Discussion

Mass like thickening of both optic nerves involving intraorbital, intracanalicular and intracranial segments (L>R). Lesion on left side is causing mild compression of globe at posterior aspect. Optic chiasma is not involved. Post-contrast study shows mild homogeneous enhancement ( L>R ); findings consistent with bilateral optic nerve gliomas

Multiple hyperintense areas involving bilateral globus pallidi, optic tracts, thalami, midbrain and left cerebellar hemisphere consistent with focal areas of abnormal signal intensity (FASI).     

Above findings are most suggestive of neurofibromatosis type 1.

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