Ischemic Cerebellar Stroke in a Young Patient With Neurofibromatosis Type 2: A Case Report

Neurofibromatosis type 2 (NF2) is a multifaceted disease characterized primarily by benign CNS tumors, especially meningiomas and vestibular schwannomas. There have been several cases of brainstem ischemic stroke in young NF2 patients reported in the literature. To date, there is no unified theory about the connection between NF2 and pediatric stroke.

We present a case of ischemia in the left cerebellar peduncle of a young patient with NF2, as well as a narrative review of the literature of previous cases.

Serial magnetic resonance images (MRIs) displayed an initial area of restricted diffusion in the left cerebellar peduncle with peripheral enhancement which did improve over several months, consistent with maturing infarct.

Our case joins several others with similar presentations and findings. The primary theory for the cause of brainstem ischemia in juvenile NF2 is a microvascular cause due to deficiency of neurofibromin 2, a regulator of endothelial development. Multicenter studies with large NF2 cohorts are needed to better characterize this syndrome.