Publication Title
Neurol Genet
Document Type
Article
Publication Date
8-1-2020
Keywords
genomics
Abstract
Objective: A new case of brainstem ischemic necrosis in a young woman with de novo neurofibromatosis type 2 (NF2) is reported, and given notable similarities to 7 prior cases of brainstem stroke in the literature, features defining a possible syndrome were sought.
Methods: Case review including detailed clinical assessment, neuroimaging analysis, genetic testing, and brain biopsy, followed by a multicase analysis.
Results: Brainstem ischemia in juvenile NF2 typically occurs in teenagers without previously known NF2 as an acute, monophasic presentation with restricted diffusion in the midbrain or pons following a recent hypoperfusion event, normal vascular imaging, obvious intracranial imaging features of NF2, typical inactivating
Conclusions: Brainstem ischemia in juvenile NF2 is a rare syndrome of unclear etiology, possibly reflecting an unknown underlying vascular abnormality; a digenic effect is not excluded.
Area of Special Interest
Neurosciences (Brain & Spine)
Specialty/Research Institute
Neurosciences
