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

Research output: Contribution to journalArticleAcademicpeer-review

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.

Original languageEnglish
Pages (from-to)184-187
Number of pages4
JournalJournal of Child Neurology
Volume32
Issue number2
DOIs
Publication statusPublished - 2017

Cite this

Tavasoli, A., Armangue, T., Ho, C. Y., Whitehead, M., Bornhorst, M., Rhee, J., ... Vanderver, A. (2017). Alexander Disease: A Leukodystrophy That May Mimic Brain Tumor. Journal of Child Neurology, 32(2), 184-187. https://doi.org/10.1177/0883073816673263
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. / Alexander Disease : A Leukodystrophy That May Mimic Brain Tumor. In: Journal of Child Neurology. 2017 ; Vol. 32, No. 2. pp. 184-187.
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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.",
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Tavasoli, A, Armangue, T, Ho, CY, Whitehead, M, Bornhorst, M, Rhee, J, Hwang, EI, Wells, EM, Packer, R, Van Der Knaap, MS, Bugiani, M & Vanderver, A 2017, 'Alexander Disease: A Leukodystrophy That May Mimic Brain Tumor' Journal of Child Neurology, vol. 32, no. 2, pp. 184-187. https://doi.org/10.1177/0883073816673263

Alexander Disease : A Leukodystrophy That May Mimic Brain Tumor. / 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.

In: Journal of Child Neurology, Vol. 32, No. 2, 2017, p. 184-187.

Research output: Contribution to journalArticleAcademicpeer-review

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AU - Ho, Cheng Ying

AU - Whitehead, Matthew

AU - Bornhorst, Miriam

AU - Rhee, Jullie

AU - Hwang, Eugene I.

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AU - Bugiani, Marianna

AU - Vanderver, Adeline

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Tavasoli A, Armangue T, Ho CY, Whitehead M, Bornhorst M, Rhee J et al. Alexander Disease: A Leukodystrophy That May Mimic Brain Tumor. Journal of Child Neurology. 2017;32(2):184-187. https://doi.org/10.1177/0883073816673263