Document Type
Article
Publication Date
8-1-2020
Publication Title
Neurol Genet
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.
Clinical Institute
Neurosciences (Brain & Spine)
Department
Neurosciences
Recommended Citation
Henson, John W; Benkers, Tara; and McCormick, Connor, "Brainstem ischemic syndrome in juvenile NF2." (2020). Articles, Abstracts, and Reports. 3399.
https://digitalcommons.providence.org/publications/3399
