Alexander Disease: A Leukodystrophy That May Mimic Brain Tumor Publisher Pubmed



Tavasoli A^{1, 2} ; Armangue T^{1, 3, 4} ; Ho CY⁵ ; Whitehead M⁶ ; Bornhorst M⁷ ; Rhee J¹ ; Hwang EI⁷ ; Wells EM¹ ; Packer R¹ ; Van Der Knaap MS⁸ ; Bugiani M⁸ ; Vanderver A¹ Show Affiliations
Source: Journal of Child Neurology Published:2017

Abstract

Alexander disease is a leukodystrophy caused by dominant missense mutations in the gene encoding the glial fibrillary acidic protein. Individuals with this disorder often present with a typical neuroradiologic pattern including white matter abnormalities with brainstem involvement, selective contrast enhancement, and structural changes to the basal ganglia/thalamus. In rare cases, focal lesions have been seen and cause concern for primary malignancies. Here the authors present an infant initially diagnosed with a chiasmatic astrocytoma that was later identified as having glial fibrillary acidic protein mutation-confirmed Alexander disease. Pathologic and radiologic considerations that were helpful in arriving at the correct diagnosis are discussed. © The Author(s) 2016.