Alexander Disease: A Leukodystrophy That May Mimic Brain Tumor

Ali Tavasoli, Thais Armangue, Cheng Ying Ho, Matthew Whitehead, Miriam Bornhorst, Jullie Rhee, Eugene I. Hwang, Elizabeth M. Wells, Roger Packer, Marjo S. Van Der Knaap, Marianna Bugiani, Adeline Vanderver*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


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.

Original languageEnglish
Pages (from-to)184-187
Number of pages4
JournalJournal of Child Neurology
Issue number2
Publication statusPublished - 2017

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