Ischemic Cerebellar Stroke in a Young Patient with Neurofibromatosis Type 2, a Case Report
Ariadne Trautman1, Divyajot Sandhu2
1University of South Dakota Sanford School of Medicine, 2Vascular Neurology, Sanford Medical Center
Objective:
We present a case of brainstem ischemia in a young patient with neurofibromatosis 2 (NF2) and review the existing literature on similar cases, which together suggest a possible NF2-associated syndrome of which stroke neurologists and pediatric neurologists should be aware.
Background:
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.
Design/Methods:
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 on previous cases.
Results:
The patient presented to the Emergency Department with left facial paresthesia and dizziness. Serial Magnetic Resonance Images (MRI’s) 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.
Conclusions:
Our case joins several others with similar presentations and findings, including pediatric patients for whom brainstem ischemia was the presenting symptom of NF2. The primary theory for the cause of brainstem ischemia in juvenile NF2 is a microvascular cause due to genetic deficiency of neurofibromin 2, a regulator of endothelial development, whose absence is likely to disrupt vascular homeostatic mechanisms. Multicenter studies with large NF2 cohorts are needed to better characterize this syndrome. Understanding brainstem ischemia in young NF2 patients will inform the development of treatment guidelines for such patients.