Coexisting Optic Pathway and Posterior Fossa Gliomas in an Adult With Previously Undiagnosed Neurofibromatosis Type 1.
Аннотация
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder that predisposes to central nervous system (CNS) gliomas. While pediatric optic pathway gliomas (OPGs) are typically benign, adult non-optic pathway gliomas (non-OPGs) represent a distinct entity, often with aggressive behavior and poorer prognosis. We report a previously undiagnosed 49-year-old woman presenting with progressive ataxia and vertical diplopia. Clinical evaluation revealed multiple café-au-lait macules, cutaneous neurofibromas, and bilateral Lisch nodules, confirming the diagnosis of NF1. Neuroimaging demonstrated a coexisting OPG and a symptomatic expansile non-OPG in the posterior fossa and cerebellar peduncle. Symptomatic onset and cerebellar involvement are adverse prognostic factors. Adult non-OPGs are associated with aggressive clinical courses, with reported median overall survival around 24 months, regardless of histological grade. This case emphasizes the importance of recognizing cutaneous and ophthalmological features for timely NF1 diagnosis. Adult non-OPGs warrant extended radiological surveillance, particularly in high-risk CNS locations, due to their potential for aggressive behavior.
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