Alexander Disease

J Child Neurol. 2017 Feb;32(2):184-187. doi: 10.1177/0883073816673263. Epub 2016 Oct 10.

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.

Publication types

  • Case Reports

MeSH terms

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

Substances

  • Glial Fibrillary Acidic Protein