A Unique Case of Sporadic Optic Pathway Glioma in an Infant With Acute Nystagmus

Optic pathway gliomas (OPGs) are a classic pathology seen in patients with neurofibromatosis I (NF-1); however, they are frequently seen as sporadic masses in patients with mutations activating the mitogen-activated protein kinase (MAPK) pathway. These sporadic tumors present rapidly with vision deficits, compared to those in neurofibromatosis I, which may be found incidentally. They can involve multiple aspects of the optic pathway and have classic imaging findings that make definitive diagnosis possible with magnetic resonance imaging. This case highlights a six-month-old boy who had an acute history of nystagmus and severe milestone regression, who was diagnosed with bilateral optic pathway gliomas. This case describes the associated imaging findings in addition to a discussion of management and overall prognosis of sporadic compared to NF-1-associated optic pathway gliomas.