Alexander disease: An important mimicker of focal brainstem glioma

Pediatr Blood Cancer. 2009 Dec 15;53(7):1355-6. doi: 10.1002/pbc.22232.

Abstract

We report the case of a 6-year-old male who was referred to a tertiary oncology center with a focal brainstem lesion which was presumed to be neoplastic. Due to the symmetric nature of the lesion on magnetic resonance imaging, the evaluation was expanded to investigate other possible causes and eventual diagnosis of Alexander's disease (AD) was made. AD is a neurodegenerative disease which must be included in the differential for tumor-like lesions within the posterior fossa.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abdominal Pain / etiology
  • Alexander Disease / diagnosis*
  • Alexander Disease / genetics
  • Alexander Disease / pathology
  • Brain Stem Neoplasms / diagnosis*
  • Child
  • Diagnosis, Differential
  • Failure to Thrive / etiology
  • Glial Fibrillary Acidic Protein / genetics
  • Glioma / diagnosis*
  • Heterozygote
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation, Missense
  • Point Mutation

Substances

  • Glial Fibrillary Acidic Protein