Alexander Disease: A Leukodystrophy That May Mimic Brain Tumor. (February 2017)

• Record Type: Journal Article
• Authors: Tavasoli, Ali; Armangue, Thais; Ho, Cheng-Ying; Whitehead, Matthew; Bornhorst, Miriam; Rhee, Jullie; Hwang, Eugene I.; Wells, Elizabeth M.; Packer, Roger; van der Knaap, Marjo S.; Bugiani, Marianna; Vanderver, Adeline
• Is Part Of: Journal of child neurology. Volume 32:Number 2(2017:Feb.)
• Page Start: 184
• Page End: 187
• Publication Date: 2017-02
• Subjects: Nervous system -- Diseases -- Periodicals; 618.928
• DOI: 10.1177/0883073816673263
• Languages: English
• ISSNs: 0883-0738

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.