Alexander Disease.

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.

• Authors: 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
• Journal: Journal of child neurology (J Child Neurol) Vol. 32 Issue 2 Pg. 184-187 (02 2017) ISSN: 1708-8283 [Electronic] United States
• PMID: 28112050 (Publication Type: Case Reports, Journal Article)

Chemical References

• Glial Fibrillary Acidic Protein

Topics

• Alexander Disease (diagnosis, drug therapy, genetics, pathology)
• Brain (diagnostic imaging, pathology)
• Brain Neoplasms (diagnosis)
• Diagnosis, Differential
• Glial Fibrillary Acidic Protein (genetics)
• Humans
• Infant
• Male