Double Take (.pdf)

A 13 year old Afghani boy was referred with an apparent isolated optic nerve sheath meningioma. The outside imaging report stated that "intracranial contents appear normal". A careful dilated fundus exam, however, uncovered an epiretinal membrane in the left eye and lesions resembling retinal astrocytic hamartomas in the right eye. These associated findings alerted us to a possible underlying systemic diagnosis of neurofibromatosis type 2 (NF2) and prompted a review of the original MRI images. Upon re-reading by a neuro-radiologist, bilateral trigeminal and vestibular schwannomas were identified, establishing a provisional diagnosis of NF2 by the Manchester Criteria.