Medicine and Health Sciences Commons^™

Adult-Onset Alexander Disease Uncovered In A Previously Healthy Patient Presenting With Acute Stroke-Like Symptoms, Usaamah M. Khan, Matthew Barrett, Alex Dworetz Do

Graduate Medical Education (GME) Resident and Fellow Research Day Posters

Alexander Disease is a rare, often fatal, leukoencephalopathy of early childhood associated with a heterozygous mutation of the glial fibrillary acid protein (GFAP) gene. Adult-Onset Alexander Disease (AOAD) is an exceptionally rare leukoencephalopathy that often presents with slowly progressive brainstem and cervical cord dysfunction features. Acute onset of AOAD has only ever been reported three times in the literature. We report a case of acute onset AOAD in a patient that presented with bulbar symptoms and left hemiplegia initially concerning for acute stroke.